01 Burchgene Magazine Pilot Issue

BurchGene
Semestral magazine of Genetics and Bioengineering Department
ISSUE 01/MAY 2016
FO R E N S IC GENET ICS ALZHEIMER’S DISEASE N E U RO SCIE N CE G E N E TH ER A PY

Genetics for CSI Question??? A Love Story Disease treatment?

Great introduction in forensic Is Alzheimer’s in your genes? Scientist from Harvard about Problems and Prospects of
genetics on crime scene p.8 p.20 neuroscience and genetics p.16 Gene Therapy p.18
LEARN NEW THINGS ABOUT HISTORY OF GENETICS

2 H i st o r y of G en etics
Genetics is more than a

“laboratory science”; unlike
some other areas of science, because
genetics has a direct impact on soci-
ety. So what is genetics? We heard a
lot of times that genetics is the scien-
tific study of heredity, but like all defi-
nitions, this leaves a lot unsaid. To be
more specific, what geneticists do is
study how traits (such as eye color and
hair color) and diseases (such as cys-
tic fibrosis and sickle cell anemia) are
»» p.8 passed from generation to generation . »» p.18
BurchGene magazine Broaden your horizons

Dear colleagues, students, respected professors, collabora-
Executive editors: tors and respected readers. It is a great pleasure and honour to
Ahmed Osmanović present to you the first ever student magazine „Burch Gene“,
Adnan Fojnica here at our department for Genetics and Bioengineering.
Editorial board: Finally, “Burch Gene” magazine saw the daylight. Our goal
Prof. Dr. Damir Marjanović was to introduce students, professors and the public to the basic
Prof. Dr. Mirsada Hukić ideas behind genetics and bioengineering. Introduce them with
Assist. Prof. Dr. Almir Badnjević definitions, concepts, applications and benefits these branches
Assist. Prof. Dr. Serkan Dogan of science provide to human kind. Also, to better understand
Assoc. Prof. Dr. Enisa Omanović science in general and to demystify some common myths we
can hear about, read in newspapers, watch on TV and similar.
Text authors:
Prof. Dr. Rifat Hadžiselimović In this very first edition, we will introduce you with his-
Prof. Dr. Damir Marjanović torical aspects and application of Mendelian and molec-
Assoc. Prof. Dr. Enisa Omanović ular genetics, biomedical engineering, forensics, nano-
Assist. Prof. Dr. Almir Badnjević technology, bioinformatics, neuroscience and many other
MS Elma Ferić-Bojić interesting topics. You will be able to read some interest-
Lejla Gurbeta ing facts about genetics and to introduce yourselves with
Adna Ašić common genetics’ diseases and ways they can be treated.
Larisa Bešić
Adnan Fojnica All the topics are written with simple style, affordable and
Dijana Sejdinović understandable for readers that are not so familiar with genet-
Anis Čilić ics from one side, in same time very comprehensive and edu-
Džana Mulaomerović cational for people that are dealing with genetics, bioengi-
Ahmed Osmanović neering and science in their everyday lives, from another side.
Lector: For realization of this project, we spent a lot of time

Sabina Halilović and gave a lot of effort, but without a doubt, our edito-
rial board and collaborators have given their maximum in
Graphical Design: order to achieve desired goal. Magazine is of course free,
Ahmed Osmanović we are stick to belief that knowledge is right not privilege.
Publisher: Using this opportunity we would like to thanks to everyone

International Burch University who have recognized our work and vision, also contributed for
publication of this very first number of „Burch Gene” magazine.
Address:
Francuske revolucije bb, Ilidža 71210 At the end, special thanks to our sponsors: International
Burch University and Verlab.
Telephone: 033 782-130
We hope you delight in reading these pieces
E-mail: burch.gene.mag@ibu.edu.ba The Editors
BurchGene Magazine | May 2016

Hist or y of Ge ne tic s 3
CONTENTS
4 MILESTONES OF GENETICS
The widespread thinking is that Gregor Mendel set basis for modern genetics.
However it was preceded by numerous, smaller or larger contributions to this science.
8 GENETICS ON CRIME SCENE

Forensic genetics is one of the rare scientific disciplines in which antiheroes had a
significant impact in raising public awareness about the necessity of DNA analysis.
11 BIOMEDICAL ENGINEERING
In 2000, German archeologists uncovered a 3,000-year old mummy from Thebes
»» p.12 with a wooden prosthetic tied to its foot to serve as a big toe.
»» p.16
14 SCIENCE ABOUT SMALL

The ideas and concepts behind nanoscience and nanotechnology started with a talk
entitled “There’s Plenty of Room at the Bottom” by physicist Richard Feynman.
16 A LOVE STORY
Your brain is built of cells called neurons and glia – hundreds of billions of
them. And each of them contains the entire human genome.
18 FROM GENES TO THERAPY

»» p.19 If genes don’t work properly, they can cause disease. Gene therapy seems like ideal
»» p.11
p.4 »» p.14 solution for treating a wide range of diseases, including cancer, diabetes and AIDS.
20 IS ALZHEIMER´S IN YOUR GENES?

Alzheimer´s disease is a degenerative disease of brain that results in dementia or loss
of memory, and ability to function. 2 in 3 people with AD are women.
22 A, C, G & T
A, C, G & T are ‘’letters’’ that write ‘’book of life’’ inside each of us. It took too long
for humans to decipher these ‘’letters’’.
»» p.7
24 A TRIP DOWN MEMORY LANE
When we are talking about molecular genetics we can surely say ideas that are
currently unimaginable are soon going to become history.
26 9 GREATEST DISCOVERIES
Here’s a look at some discoveries that have changed the world of genetics. It’s
impossible to rank their importance, so they’re listed in the order they were discovered.
»» p.22

MILESTONES
OF GENETICS
Rifat Hadžiselimović
DISCOVERIES AND EVENTS
From the origins of human cognition patterns on our planet, members of the human
race tend to evolve to surpass their predecessors. According to the earliest written ev-
idence, Homo sapiens tend to use the genetical potential of the interesting species, by using core
genetics forms, from which some were not explained untill the distant future and modern epoch.
It is widely known that Gregor Mendel (1822-1884) set the basis (1869.) for all fields of modern
genetic research. In the early 20th century, the science that he was involved with is referred to as
Mendelism, with the qualification “science of inheritance” ... However, as in all other areas of hu-
man knowledge, it was preceded by numerous, smaller or larger contributions to this science, which
originate from the deepest layers of civilization. Such areas have long been works of ingenious in-
dividuals amateurs who were not considered scientists, and nor did they fully grasp the science.
1. Early theories and interacted in the womb to direct an Hebrew - Judah ibn Tibbon.
applications organism’s early development. For In 1000 CE, the Arab physi-
both Hippocrates and Aristotle— cian, Abu al-Qasim al-Zahrawi
3000. CE - Targeted cross and nearly all Western scholars (known as Albucasis in the West)
breeding between domestic through to the late 19th century— was the first physician to describe
animals. the inheritance of acquired charac- clearly the hereditary nature of hae-
The Egyptians, Greeks and teristics was a supposedly well-es- mophilia in his Al-Tasrif.
Romans crossed horses with the tablished fact that any adequate VI century CE, - Heraclitus is
aim of “processing”. theory of heredity had to explain. the founder of the dialectical-ma-
Assyrians and Babylonians dis- At the same time, individual species terialist view of the world: ‘’ Panta
tinguished male and female tree were taken to have a fixed essence; Rei ‘(everything moves). Matter,
dates, and the number of males such that inherited changes were including wildlife, everywhere, is
were minimized in order to achieve merely superficial. constantly changing. It is a single
higher yields. In the 9th century CE, the Afro- concept - only manifests itself
The most influential early Arab writer Al-Jahiz considered the in various forms. There exists a
theories of heredity were that effects of the environment on the present struggle of opposites: of
of Hippocrates and Aristotle. likelihood of an animal to survive. living occurs life, but life can not
Hippocrates’ theory (possibly based In 1140 CE, Judah HaLevi exist without death; the origin does
on the teachings of Anaxagoras) described dominant and recessive not go without fail; light without
was similar to Darwin’s later ideas genetic traits in The Kuzari. “This darkness; beginning with no end.
on pangenesis, involving hered- phenomenon is well known in V Century CE - Empedocles
ity material that is collected from inheritance, because very often we suggested the four elements: water,
throughout the body. Aristotle sug- have a son who does not look like earth, air and fire - and culminates
gested instead that the (nonphys- his father, and instead looks like ancient materialism. His philos-
ical) form-giving principle of an his grandfather. Without a doubt, ophy is the forerunner of the sci-
organism was transmitted through inheritance and likeness were entific process. Interestingly,
semen (which he considered to be found within his father, though they Empedocles hypothesis sugests
a purified form of blood), and the were not visible from the outside.” that living organisms are formed by
mother’s menstrual blood, which assembling individual anatomical

1694th - Rudolph Camerarius,

German professor of medicine,
described sexual reproduction in
plants. As far as is known, this was
the first recorded production of
artificial hybrids, which prompted
an experimental approach to
hybridization.
1717th - Thomas Fairchild,
English explorer announced results
of successful pollination between
related plants. Hybrids displayed
Figure 1 Albucasis and two pages from his original crowning achievement, his traits of both parents, which are
magnum opus, was a 30 volume encyclopedia of medicine and surgery called Kitab known as Fairchild’s sweet William
al-Tasrif or Fairchaild’s mule.
parts that are independently formed soul which enters into the fetus. 1735-38. - Swede Carl
in nature. After that, these parts are Each of these four factors had Linnaeus (published under the
held in a harmonious whole form, four parts creating sixteen factors Latin name Carolus Linnaeus)
which indicates the modern views of which the karma of the parents made the first taxonomic sys-
on the selection and genetic struc- and the soul determined which attri- tematization of living beings (in
ture of populations. butes predominated and thereby epochal work Systema Naturae,
IV century CE - Aristotle gave the child its characteristics. in the Netherlands), whose basis
contributed immensly to ancient and criteria are not significantly
science. He visualized the immense 2. Transitional epoch changed untill now. Line described
biological diversity, ie, the fact that the sexual organs of many plants
living beings are heterogeneous Since ancient times, the first and experimentally produced their
and that they are graded complexes ideas on the development of living hybrids.
in a conspicuous development line. nature and biological inheritance to In 1760. - Joseph Kölreuter is
The entire material world is clas- the great discoveries in the field of the founder of quantitative genet-
sified as a hierarchical set of com- natural sciences in the 16th century ics and practical hybridization. By
plexity: from minerals through has been recorded (for biology). experimenting with high and dwarf
plants and animals to man. During this long period, the Roman varieties of tobacco, he noted that
III century CE - In Europe, Empire, Aristotle and other figures hybrids of the first generation are
about 10 centuries of absence spilled over works that were “sea- intermediate, and that in another
traced the development of science soned” interpretations of transla- they have “normal distribution”, ie.
in general and even biology. tors (these interpretations where they are often more exuberant than
In the Charaka Samhita of mostly stolen or had serious omis- parents and that there is no differ-
300CE, ancient Indian medical sion). It so happened that the origi- ence in reciprocal crosses.
writers related the characteristics nal ancient ideas in Western Europe George Leclerc Buffon was
of a child as four factors: drew only on the threshold of the a French naturalist -evolution-
(1) those from the mother’s 13th century, thanks to the expan- ist, who insisted on the empirical
reproductive material, sion of Arab culture, that it is much belief that living species are chang-
(2) those from the father’s earlier assumed. Among the many ing and that the biological diversity
sperm, minds of the time, in different is a product of time.
(3) those from the diet of the fields of natural sciences, in med- Erasmus Darwin, grandfather
pregnant mother and icine certain figures particularly of Charles Darwin also recorded
(4) those accompanying the stood out: Al-Kindi, Al Rhases, Al similar conclusions and, as Buffon,
Gaber, Abu Ibn Sina (Avicenna). In thought that acquired characteris-
Europe is rooted the original sci- tics are transmitted to the offspring.
entific ideas, in which Copernicus,
Galileo, Newton, Descartes and 3. XVIII and XIX
other scholars had most of the century
credit. In terms of biology, Vesalius,
Harvey and Leeuwenhoek domi- In the 18th century, with
nated. Due to the accumulation of increased knowledge of plant and
recorded biological data, there is a animal diversity and the accom-
need for their systematization and panying increased focus on tax-
organization. onomy, new ideas about hered-
1682nd - Nehemiah Crew, ity began to appear. Linnaeus
English plant anatomist, under and others (among them Joseph
Figure 2 Empedocles’s four world: went the first consistent study of Gottlieb Kölreuter, Carl Friedrich
water, earth, air and fire plant reproductive organs. von Gärtner, and Charles Naudin)

conducted extensive experi- biologist discovers colored bodies, medicine.

ments with hybridization, espe- chromosomes, and named them
cially hybrids within species. after the Greek prefix chroma (= 4. Classical genetics
Species hybridizers described a color) + soma (= body), because
wide variety of inheritance phe- they are visible as stains when cells 1902 - US and German cytol-
nomena, include hybrid steril- received specific colors. ogists independently observed the
ity and the high variability of 1893. – Friedrich Leopold links between Mendel’s “units
back-crosses. August Weismann - German Jew, of heredity” and chromosomes.
In 1809. - Jean-Baptiste a biologist, has developed one They conclude that hereditary
Lamarck, a French biologist, of the first theories of biological information is contained in the
creator of the first complete theory inheritance. Although some his chromosomes.
of evolution, at the beginning of views were later rejected, unques- 1902 - William Bateson intro-
the 18th century, has also attributed tionably was the originator of the duces the name gene for Mendel’s
great importance to biodiversity. modern theory of organic inher- “inheritance factor”.
He discovered a theory of inheri- itance and evolutionary route 1905 - Wilhelm Ludwig
tance of acquired characteristics in known as neo-Darwinism (‘’Über Johannsen, a Danish botanist intro-
the book ‘Zoological Philosophy’. die Vererbung’’). He assumed duces the concepts: genotype and
1835th - Hugo von Mohl, a that in every cell in early embry- phenotype in the work „Om arve-
German botanist discovers mitosis onic development, differentiated lighed i samfund og i rene linier“
in plants. German zoologist Otto somatoplazma (“catfish”) and and the book „Arvelighedslærens
Bütschl was one of the first germ-plasma (“” germ “) existed. Elementer“, which was expanded
researchers who may have found According to him, the germplasm and translated into German under
the discovery process today known is a basic unit of heredity, and is not the title „Elemente der exakten
as mitosis, and the term is defined affected by environmental factors. Erblichkeitslehre“.
by Walther Flemming (1882). Reproduction of animals, not com- 1905 - William Bateson, a
In the early years of the 19th plicate somatic cells but germ- British biologist and evolutionist
century Augustin Sager established plasma, which are “unchanged”, created the term genetics.
relationship of dominance, noticing are transmitted in a series of gen- 1909 - Wilhelm Ludwig
that such properties, if it has at least erations. The effect of running in Johannsen, a Danish botanist,
one parent, regularly occur in the one direction: calling (germ) cells according to some, proposes the
offspring. He also found that some produce somatic cells from somatic term gene, according to genotype
parental features do not appear in cells “learn” the appropriate capac- and genetics. The sex chromo-
any of the offspring. This system ity of the body. Hereditary infor- somes were found in the works of
is also confirmed by the farmers mation can not pass some of the the butterflies and other insects.
of agricultural plants in England. germ and the next generation. He
1859 - Charles Darwin pub- established the “theory of germ 1910. – 1920.
lished “Origin of Species by plasma.
Means of Natural Selection ‘’ (‘’ 1900 - Rediscovery of 1910th - Thomas Hunt Morgan
The Origin of Species by means Mendel’s work and affirmation first discovered sex-linked prop-
of natural selection or preservation of the meaning of its results (Carl erties while studying the fruit fly
of favored races in the struggle for Correns, Erich von Tschermak and Drosophila. He discovered that the
life ‘’). Hugo de Vries) marked the begin- gene for eye color is on the X chro-
1865 - Gregor Mendel pub- ning of rapid development and dif- mosome, and it is also the first loca-
lished ‘’ The research on plant ferentiation of genetic research, tion of a gene on a particular chro-
hybrids ‘’ (‘’ Versuch über Pflanzen- which characterize the modern era mosome. Morgan reveals crossing
HYBRID ‘’). of development and even biolog- over, ie, recombination of paren-
1876 - Oscar Hertwig discov- ical sciences, biotechnology and tal chromosomes during meiosis.
ered meiosis. She described this
phenomena again in 1883, at the
level of chromosomes (Belgian
zoologist Edouard Van Beneden,
in eggs of Ascaris worms of
the genus). The significance of
meiosis for reproduction and inher-
itance, however, described only in
1890. German biologist August
Weismann, who noted that two cell
division necessary to transform one
diploid cell into four haploid cells
if the number of chromosomes
should be maintained. Figure 3 Thomas Hunt Morgan was first discovered sex-linked (sex-linked) proper-
1882 Walter Fleming - German ties, while studying the fruit fly Drosophila.

Researchers Thomas Hunt Morgan, and not only DNA.

Alfred Sturtevant, Calvin Bridges 1970: Restriction enzymes
and the other on vstama Drosophila were discovered in studies of bac-
genetics explain sex and sex-linked terium, Haemophilus influenzae,
inheritance. Thomas Hunt Morgan enabling scientists to cut and paste
suggested that genes are contained DNA
in the chromosomes, based on In 1977. - Frederick Sanger’s
observations of mutant fruit flies method determined the DNA
bjelooke. sequence of the E. coli bacterio-
1911.- Swede Nilsson-Ehle phage known as the indication of
establishes the basis and nature Figure 4 Genes carry the codes for the X174 (which contains 5375 nucle-
of inheritance of quantitative protein synthesis otides). Independently of this
characteristics. He noticed that that is transferred from bacteria to experiment, by the same principle,
their genetics can not explain the bacteria. Walter Gilbert and Alan Maxam
current Mendelian rules and raises In 1931. - ‘’ Crossing over ‘’ is developed their methods of chem-
the hypothesis of multiple alleles the result of recombination. ical degradation (chemical deg-
with cumulative effects and their radation method - Maxi-Gilbert
effect on certain genes. He assumes 5. Molecular genetics method).
that there a larger number of genes In 1983. - Kary Mullis dis-
whose expression is significantly 1941 - Edward Lawrie Tatum covers polymerase chain reac-
affected by environmental factors. and George Wells Beadle con- tion (PCR), which enables simple
Johansen defines modifications, firmed that genes carry the codes amplification of the DNA molecule.
ie. That the phenotypic variation for protein synthesis.
within the same genotype is sig- 1944: The Avery–MacLeod– 6. Genomics
nificantly influenced by environ- McCarty experiment isolates DNA
mental factors. as the genetic material (at that time 1989 - Established the first
1913th - Alfred Sturtevant, called transforming principle). human genome sequence, Francis
(Morgan student) announces the 1950: Erwin Chargaff shows Collins and Lap-Chi-Cui (Lap-
first gene (genetic) folder chro- that the four nucleotides are not Chi Cui); gene encoding ‘’ CFTR
mosomes. He took advantage present in stable proprotions in ‘’ protein, which causes cystic
of a phenomenon and related nucleic acids, however certain fibrosis.
genes to a gene map, and proved rules appear to hold(e.g., that the In 1994. - He showed up
linear arrangement of genes on amount of adenine, A, tends to be FlavrSavr genetically modified
chromosome. equal to that of thymine, T). tomato, which he has a long shelf
1918th - Ronald A. Fisher pub- 1952: The Hershey–Chase life. This is the first GM product
lished a paper entitled “Correlation experiment reveals that the genetic sales in the United States. GM
between members of the same information of phages (and, by tomato puree goes on sale in the
family based on Mendelovskog implication, all other organisms) UK in 1996.
inheritance ‘’. is DNA. 1995: The genome of bacte-
In 1926. - Hermann Joseph 1953: DNA structure is rium Haemophilus influenzae is the
Muller reveals, and in 1927 pub- resolved to be a double helix by first genome of a free living organ-
lished data on mutagenic effects James Watson and Francis Crick. ism to be sequenced
of X-rays. In 1919, Muller real- 1956: Joe Hin Tjio, while 1996: Saccharomyces cerevi-
ized two experiments with differ- working in Albert Levan’s lab, siae , a yeast species, is the first
ent doses of X-rays were used by established the correct chromo- eukaryote genome sequence to be
CESO. She appeared significant some number in humans to be 46. released, and after that of plant,
quantitative relationship between 1958: The Meselson–Stahl Arabidopsis thaliana and fruit fly,
radiation and deadly mutation. experiment demonstrates that DNA Drosophila melanogaster. (2000.).
Muller’s discovery caused a huge is semiconservatively replicated. 1998: The first genome
media sensation after a paper enti- 1961. - The genetic code consequence for a multicellular
tled “The Problem of Genetic sists of triplets; which each consist eukaryote, Caenorhabditis elegans,
Modification ‘’ sent to the Fifth of three units (“letter”), each of is released.
International Congress of Genetics which encodes one amino acid 2001: First draft sequences of
(Berlin). He discovered and struc- only. More codes can have the the human genome are released
tural chromosomal mutation that same meaning - encoding the same simultaneously by the Human
was later referred to as chromo- amino acids. Genome Project and Celera
somal inversions. In 1964. - Howard M. Temin Genomics.
In 1927. - Hermann Joseph RNA viruses demonstrates that 2003 (14 April): Successful
Muller defines: Physical changes Watson’s central dogma does not completion of Human Genome
in genes are called mutations. take into consideration the fact Project with 99% of the genome
In 1928. - Frederick Griffith that the viral genetic information sequenced to a 99.99% accuracy.
discovers a hereditary molecule can come in the RNA molecule,

GENETICS ON
CRIME SCENE Damir Marjanović, Adna Ašić, Larisa Bešić
FORENSIC GENETICS
genetics.
Forensic genetics is the sci-
entific area of genetics which is
concerned with the application
of the genetic findings in court,
legal procedures. It is important
to emphasize that forensic genet-
ics, i.e., its foundations, date from
before the first official use of foren-
sic DNA analysis in 1985. Before
DNA analysis, different genetic
systems, such as HLA (human leu-
kocyte antigen) analysis or ABO
blood groups analysis were widely
used, especially for the purpose of
paternity testing. Moreover, pater-
nity testing which was done using
comparative analysis of those
phenotypic characteristics whose
expression was, as it was thought
Figure 1 Connection of the forensic genetics with the other at that time, based on the variations
scientific fields. of the genetic markers, should not
be neglected. The science from
Half of the century after the rev- located on the specific positions in that time, at least on the level of
olutionary discovery of the molec- the human genome, which repeat its application, is hardly compara-
ular structure of DNA as an essen- in successive series. Also, he con- ble to its recent scope. However,
tial carrier of hereditary informa- firmed that the number of those some of the fundamental findings
tion, it has been promoted into the repetitive units can vary among that still represent the base of the
mostly mentioned and used organic the individuals in the examined modern forensic genetics were dis-
substance in a wide range of sci- population sample. By improving covered in that period.
entific disciplines (Marjanović et the methods of length variations Forensic genetics is based on
al, 2005a). One of the most com- analysis of these repetitive DNA the complex interaction of a huge
monly used methods of the analy- sequences, Jeffreys created the pos- number of scientific fields, such as
sis of individual regions of DNA is sibility to conduct massive human biology, biotechnology, genetics
forensic DNA testing, also known DNA testing. (especially population and molec-
as DNA fingerprinting or DNA That massiveness, as well as ular genetics), biochemistry, math-
typing, depending on the method very high level of applicability of ematics, biostatistics, medicine,
of analysis. the newest findings, which consid- technology, law, ethics, etc. (Figure
DNA typing has been scientifi- erably overcame the initial postu- 1).
cally promoted in forensics 20 years lates of DNA analysis, led to the Today, DNA analysis has an
ago in the papers of English geneti- development of the new scientific irreplaceable role in the foren-
cist Alec Jeffreys. He described the discipline which is still described sic science as a whole. In the last
existence of the DNA sequences, under its working title as forensic twenty years, this method was the

Almost every scientific discipline has its own heroes who substantially influenced
its further development. Forensic genetics is one of the rare scientific disciplines
in which even antiheroes had a significant impact through raising public awareness
about the necessity of DNA analysis and the need for the investment in this promising
tool. Therefore, any forensics text „worth reading“ should not avoid the following three cases: Colin
Pitchfork Case, O. J. Simpson Case and Bill Clinton Case. We are strongly recommending you to
read something about those stories. That will help you to recognize how exact application helped in
the shaping of the forensic genetics as one of the most applied scientific branch within 21st century.
main tool that clarified numerous principles are widely used in the in 1980, Alec Jeffreys (Figure 2)
forensic cases worldwide. There forensic genetics. showed that specific regions of
are several main areas of DNA Final demystification of the DNA (VNTR – variable number of
analysis application in forensic molecular structure of DNA which tandem repeats) contain repetitive
medicine: investigation of criminal was first shown by the Nobel Prize sequences which differ from person
activities, identification of persons, winners James Watson and Francis to person in 1984, and used them
and proving the parenthood. Crick in 1953 opened new hori- in the court for the first time a year
This method played a very zons in the molecular microcos- later. This discovery was crucial in
important role in the Balkans mos. Soon after that, Coenberg dis- solving the first forensic case that
thought the projects of the war covered and described DNA poly- used DNA analysis. After the assas-
victims identification, both in merase in his papers (in 1958). sination of two girls, Lynda Mann
Bosnia and Herzegovina (1992 Twenty years later, Botstein and and Dawn Ashworht, in 1983 and
- 1995) and in its closest neigh- his coworkers laid the founda- 1986, police organized the testing
borhood. Applying this powerful tions of the RFLP method (restric- of more than 5000 men and finally
“molecular weapon”, thousands tion fragment length polymor- found the murderer (Wambaugh,
of human remains were given phism) by describing the possi- 1989). However, the discovery of
their names back and their fami- bility of using restriction endo- PCR (polymerase chain reaction)
lies were at least given the oppor- nucleases, and also showing that procedure and its improvement
tunity to bury their loved ones in there are small variations in hered- during the 1980s (Mullis and col-
dignity. itary material which differ from leagues, Figure 2-a) significantly
The development of the scien- person to person. Finally, after influenced the future of DNA anal-
tific field such as forensic genet- Wyman and White described the ysis, both in clinical and forensic
ics is not exclusively conditioned existence of short, highly variable medicine. With the discovery of
by the events and changes within DNA markers for the first time this technology, it became possible
its field of interest. It is necessary
to consider all the events that hap-
pened prior to its establishment, as
well as everything that, originating
from the other scientific fields, had
either direct or indirect influence
on the streams within the forensic
genetics itself. The whole book,
and not to mention a single chapter
like this, would not be enough to
consider all the relevant facts, but,
however, few of them are worth to
be pointed out in this short review.
As it is well known, Mendel
formulated the basic principles
of the inheritance. Even though
his first results were published in
1865, they were completely for-
gotten until 1900, when the other
scientists (De Vries, Correns, and
Von Tschermak) confirmed them. a) b)
William Bateson (founder of the
terms “gene” and “genetics”) in Figure 2 The basis for the “dramatic” expansion of forensic genetics in the last three
1906, proved Mendel’s laws in his decades was set by two scientists who were not forensic experts; a) Kary Mullis who
experiments on animals. The foun- defined polymerase chain reaction and b) Sir Alec Jeffreys who performed the first
dation and universality of Mendel’s official DNA analysis whose results were verified in the court trial in 1980s.

to analyze the biological specimens biological relations between indi- the following 15 years. In 1993,
which contain minute amounts of viduals, as well as biological traces. the analysis of already mentioned
DNA. This method enabled the probabil- STR loci was introduced for the
These fundamental discoveries in ity of tested parentage to cross the first time. Two years later, the first
genetics dictated the trend of their limit of 99%. However, its appli- ABI 310 capillary genetic analyzer
application, which, in turn, con- cation was still extremely limited was officially produced, as well as
ditioned the development of the on the analysis of large biological TaqGold polymerase, which is still
forensic genetics itself. Scientists traces and was using an exception- the most commonly used enzyme
were aware of the blood group ally long procedure. in forensic DNA analysis. In this
inheritance system and the possi- Also, in the early 1990s, molecular period, the first multiplex STR
bility of its application in the deter- genetics techniques based on the systems were developed, which
mination of biological (genetic) application of PCR found its wide enable simultaneous analysis of
relations between human individ- application in the disputed parent- multiple STR loci (at the end of
uals for a long time. With the dis- age testing and in forensic DNA 2012, that number increased to the
covery of new serological tests analysis. The main advantage of simultaneous analysis of 18 loci in
for Rh, Kell, and Duffy blood this method is the ability to get the one reaction), as well as fast-PCR
group systems, and their simulta- billions of copies of the fragment thermocyclers and multi capil-
neous application with ABO test, of interest from very small biolog- lary genetic analyzers for simple
the power of exclusion has been ical traces, i.e., traces character- and simultaneous electrophore-
increased up to 40%. ized by the presence of extremely sis of multiple samples, which
In the early 1970s, the limits of the small amounts of DNA, using enables extremely fast processing
genetic testing were widened from successive and targeted copying of numerous samples. The shorten-
blood typing to tissue typing. The of DNA molecules. This analysis ing of the processing time became
molecular bases of this testing were was considerably improved with necessary in the laboratories
in the application of so-called HLA the two additional steps, intro- whose primary task was process-
(Human leukocyte antigen ) typing. duction Taq polymerase and STR ing the samples for the DNA data-
There are many HLA types which (short tandem repeats) molecular bases. Also, at the beginning of this
expressed a high level of individ- markers, which will be further dis- century, the expansion in the use
ual variation which is “geneti- cussed later on. Finally, the appli- of new markers, like SNPs (single
cally controlled” primarily by the cation of this method shifted the nucleotide polymorphisms), which
genetic complex located on the power of exclusion in the testing of are expected to enable the progress
sixth chromosome. Due to that, disputed parentage to the minimum of chip biotechnology and increase
they turned out to be a good tool of 99.999% and enabled the anal- the use of mitochondrial DNA and
in disputed parentage testing. The ysis of extremely small biological molecular markers related to the
power of exclusion was increased traces characterized by the pres- sex chromosomes, was recorded.
up to 80% with the application of ence of minute amounts of, usually Modification of the existing STR
HLA typing, and in combination highly degraded, DNA. genetic markers and the creation
with serological tests, that power In the end, there is a significant and of miniSTR concepts made it pos-
reached almost 90%. However, fast progress in the development sible to analyze extremely small
the application of this method has of basic biotechnological methods amounts of highly degraded DNA
some serious limitations because which enabled the forensic DNA which is often found in biolog-
the analysis requires processing analysis to cross the path from an ical traces. In the last few years,
large blood samples that cannot exclusive and complex procedure phenotypization (prediction of the
be older than few days, which rep- to the everyday routine procedure basic phenotypic characteristics of
resents a serious problem, espe- in only 20 years. Soon after the dis- the person who left certain biolog-
cially during the testing of infants closure of the famous PCR princi- ical trace based on the analysis of
in the first year of life. ple, at the beginning of 1986, the SNP markers) turned out to be very
Finally, in the middle 1980s, dis- first PCR thermocycler was con- interesting and it will be discussed
puted parentage testing and deter- structed. It was simulating all the in one of the following chapters.
mination of the origin of biologi- conditions necessary for perform- The development of forensic genet-
cal traces in forensic analyses by ing the phases of PCR method. In ics is truly dynamic and almost
processing the primary carrier of that same year, automatic sequenc- every month new product is offered
hereditary traits, i.e., DNA mol- ing was described for the first time, on the market to significantly sim-
ecule, has begun. Method used and company Applied Biosystems plify already existing procedures or
then, so-called RFLP analysis, introduced the first genetic ana- to give completely new solutions in
was giving the results signifi- lyzer – model 370A – on the the field of forensic DNA analysis.
cantly better than previous serolog- market. Six years later, the same
ical and HLA tests. It was shown company presented the first cap-
that the fragments of DNA mole- illary system, which will com-
cule are significantly more variable pletely repress genetic analyzers
than HLA complex, which made based on the classical vertical poly-
them ideal for the determination of acrylamide gel electrophoresis in

BIOMEDICAL
ENGINEERING Almir Badnjević, Lejla Gurbeta
HISTORY AND PERSPECTIVES
and comitment in improvement Biomedical Engineering – past
of quality of life, enforces the
support of technologically special- In its broadest sense, biomedi-
ized personnel, trained into solving cal engineering has been with us for
problems in medicine and health centuries, perhaps even thousands
– bioengineers. of years. In 2000, German arche-
ologists uncovered a 3,000-year-
Interdisciplinary is a bedrock of old mummy from Thebes with a
biomedical engineering, where wooden prosthetic tied to its foot
engineers contribute to the to serve as a big toe. Researchers
advancement of knowledge equally said the wear on the bottom surface
as medical professions. Biomedical suggests that it could be the oldest
engineering is, beside the sustain- known limb prosthesis. Egyptians
able and renewable energy sources, also used hollow reeds to look and
one of the most rapidly growing listen to the internal goings on of the
branches of industry in the devel- human anatomy. In 1816, modesty
oped world. The development of prevented French physician Rene
Figure 1 Biomedical engineering is a biomedical engineering and its Laennec from placing his ear next
young field of engineering and science affirmation has mainly appeared to a young woman’s bare chest, so
and is yet to be seen how it will affect the in the last 50 years, first as a result he rolled up a newspaper and lis-
world of development in electronic indus- tened through it, triggering the idea
In respect with growing popu- try (silicon transistor) while later it for his invention that led to today’s
lation, medicine and health care started developing at its own pace. ubiquitous stethoscope.
have changed dramatically in
the past few decades. Within the In this article, history overview of Throughout history, humans
modern health care system, engi- Biomedical Engineering is given have made increasingly more effec-
neering involvement is needed in with respect to present state in tive devices to diagnose and treat
overcoming challenges in human Bosnia and Herzegovina and future diseases and to alleviate, rehabil-
health protection, disease preven- research in this area in the world itate or compensate for disabil-
tion, treatment and rehabilitation bearing in mind that Biomedical ities or injuries. Miniaturisation
of patients throught introducing Engineering, or Bioengineering, is of diagnostic and therapeutic
sophisticated technology in every the application of engineering prin- devices, their lower power con-
day use, covering a wide range of ciples and methods in solving prob- sumption, portability and appear-
products, from simple bandages to lems in the fields of biology, med- ance of microprocessor enabled
the most sophisticated life - support icine and health care. Biomedical their applications in practically all
equipment and prothesis. Hospitals engineering is a unique mix of branches of medicine, from X-ray
and other medical institutions have engineering, medicine and science imaging devices, cardiac pace-
a commitment to take care of all emerged alongside biophysics and maker, antibiotic production tech-
kinds of high technology devices medical physics. nology, artificial kidney from the
including the hospital information early days, computerised tomog-
systems, networks and their safety raphy and magnetic resonance
and security. Growing technologi- imaging devices and methods,
cal participation in health services up to genomic sequencing &

micro-arrays, positron emis-

sion tomography and image-guided
surgery from the last decades.
As medical practice
becomes more technologically
based, a progressive shift occured
in industry to meet the demand, so
different specialty areas within the
field of biomedical engineering
were established, such as bioinstru-
mentation, biomechanics, bioma-
terials, systems physiology, clini-
cal engineering and rehabilitation
engineering.
As for education, the ear-

liest academic programs began to
take shape in the 1950s. Their estab-
lishment was aided by Sam Talbot Figure 2 Intediscipllinary is bedrock of Biomedical Engineering
of Johns Hopkins University, who
petitioned the National Institutes In Europe, there are more with more than one implantable
of Health for funding to support a than 300 universities having pro- electronic device and these devices
group discussion of approaches to grams with content in biomedical will have to learn how to commu-
teaching biomedical engineering. engineering. The profession “bio- nicate and adjust their performance
Ultimately three universities were medical engineer” is a registered in order not to cause any harm due
represented in these discussions: profession in many countries and in to joint action. The next step will
The Johns Hopkins University, those where it is not an registered probably be functional tissue engi-
the University of Pennsylvania professions, biomedical engineers neering where tissue will be grown
and the University of Rochester. are considered to work in an inter- from biological material - cells,
These three institutions, along with disciplinary area. placed into the body into the right
Drexel University, were among position, and then the function of
the first to win important training Biomedical engineering the newly implanted tissue will be
grants for biomedical engineer- is a key sector for European com- restored.
ing from the National Institutes of petitiveness. It presents a €100
Health. billion-market size. In Europe, At the same time, data
20,000 companies work in this transfer and information process-
Biomedical Engineering – present sector. This equates to 575,000 jobs ing in medical applications will
and in terms of innovation, this is become more demanding due to
Today, medical technol- the first sector in patent applica- increased number of sensors for
ogy is essential and unavoidable tions – 10,412 – in 2012. Those measurement or monitoring of
for each and every effort to ensure numbers are growing very fast and physiological and biomechanical
health and well-being of the pop- the Biomedical Engineering sector quantities, from the surface and/or
ulation. Everywhere in the world, is becoming of strategic interest from the inside of the body.
but especially in Europe, there is to Europe and other developed
an increase of chronic non-com- countries. For instance, the CNN There are two major fields
municable diseases partially due to reported in 2014 that BME was of intensive research which will
aging of the population and par- the first job in the USA for impact, improve the current results, neural
tially due to change of lifestyle to growth and future prospects. interfaces and neuroscience. The
sedentary or only lightly active, bad need for neural interfaces fosters
nutrition habits and increased level Biomedical Engineering – future development of new biocompat-
of stress. However, these new and ible materials for neural prosthe-
increased needs of the population For research in biomedi- sis, especially among the nanoma-
became generators of the economy, cal engineering, there is no limit terials and nanotechnology. In neu-
so that e.g. in the USA, “employ- because humans are demand- roscience, scientists are research-
ment of biomedical engineers is ing and would like to extend the ing how the brain works and for
projected to grow 27 percent from quality of life and the life itself for processing and understanding the
2012 to 2022, much faster than many years. In the next decades, complexity of all the data acquired,
the average for all occupations”. one can expect that research will engineering knowledge is neces-
Research and development in the concentrate and bring to the market sary. For better understanding of
field of medical technology in devices for restoring the functions the data in neuroscience, fusion of
directed to finding optimal solu- of tissue, by more sophisticated imaging modalities is necessary
tions for social priorities. implantable electronic devices. In and for better diagnosis, medical
the future, there will be patients experts still need better resolution

Environment in the bioin Bosnia and Herzegovina by published in IFMBE Proceedings

medical engineering world is con- helping the government in deter- by Springer Nature. Selected
stantly and rapidly changing, the mining the strategic direction papers will be published at CC/SCI
knowledge is rapidly increasing related to Biomedical Engineering Indexed Springer Journal.
and there is a constant need for and supporting researches in this As for education, different scien-
increasing the resources and equip- area. tific curricula exist mostly on facul-
ment necessary for the demanding 1st Conference of Medical and ties for electrical engineering and/
research. Biological Engineering in Bosnia or informational technologies on
Biomedical Engineering in and Herzegovina (CMBEBIH public and private universites, but
Bosnia and Herzegovina 2015), was held in Sarajevo from there are evidences that this field of
Field of Biomedical 13th to 15th March, 2015 with formal education is yet to develop.
Engineering in Bosnia and goal to “Expand your (own) hori- Biomedical engineering is
Herzegovina is very young and zons through biomedical engi- a young field of engineering and
still in the first stage of devel- neering”. The organizers, Bosnia science and it is small compared to
opment. In 2014, Bosnia and and Herzegovina Medical and the traditional engineering fields,
Herzegovina Medical and Biological Engineering Society. like electrical or mechanical engi-
Biological Engineering Society 2nd Conference of Medical and neering. However, due to the needs
(DMBIUBIH) was established. Biological Engineering in Bosnia of the society and enthusiasms of
This society brings together a large and Herzegovina (CMBEBIH young generations of students, the
number of university professors, 2017), will be held in Sarajevo from number of biomedical engineers
doctors, engineers and technicians 16th to 18th March, 2017. It will working in research and develop-
in the field of medical, biological, be exciting, informative and inspir- ment is rapidly growing.
electrical, mechanical engineering conference with aim of sharing As for Bosnia and
ing, pharmacy and other related ideas, experiences, best practices Herzegovina, Biomedical
science fields. The main goal of and latest researches in biomed- Engineering it is yet to be seen
this society is to support develop- ical engineering. The good news how research and academic pro-
ment of Biomedical Engineering is that all accepted papers will be grammes will develop in future.
Don’t miss #cmbebih2017!

SCIENCE
ABOUT SMALL
Enisa Omanović Mikličanin
NANOTECHNOLOGY
nanometre scale. Nanomaterials

are categorised according to their HOW IT STARTED?
dimensions as shown in Table 1.
Nanomaterials are larger than sin- The ideas
gle atoms but smaller then bacteria and con-
and cells. Figure 2. visualise the cepts be-
relationships between bulk materi- hind nano-
als, like a tennis ball, and nanoma- science and nanotechnology
terials. Why „nano“ is so special? started with a talk entitled
There are various reasons why “There’s Plenty of Room
nanoscience and nanotechnolo- at the Bottom” by physicist
Figure 1 Physicist Richard Feynman, the gies are so promising in materials, Richard Feynman at an Amer-
father of nanotechnology.
engineering and related scienc- ican Physical Society meet-
Nanotechnology is „the es. First, at the nanometre scale, ing at the California Institute
science about small“. It is the the properties of matter change. of Technology (CalTech) on
study and application of extreme- This is a direct consequence of December 29, 1959. In his
ly small things which can be used the small size of nanomaterials, talk, Feynman described a
across all the other science fields, physically explained as quantum process in which scientists
such as chemistry, biology, phys- effects. The consequence is that a would be able to manipulate
ics, materials science, and engi- material (e.g. a metal) when in a and control individual atoms
neering. On of the definition of nano-sized form can assume prop- and molecules. It was a long
nanotechnology is that it conducts erties which are very different before the term nanotechnol-
science, technology and engi- from those when the same materi- ogy was acctually used. Over
neering at nanoscale (1-100 nm). al is in a bulk form. For instance, a decade later Professor No-
The same material (e.g., gold) at bulk silver is non-toxic, whereas rio Taniguchi coined the term
the nanoscale can have proper- silver nanoparticles are capable nanotechnology in his ex-
ties (optical, mechanical, electri- of killing viruses upon contact. plorations of ultraprecision
cal etc.) which are very different Properties like electrical conduc- machining, It wasn’t until
from the properties the materi- tivity, colour, strength and weight 1981, with the development
al has at the macro scale (bulk). change when the nanoscale level of the scanning tunneling
is reached: the same metal can microscope that could “see”
What is a nanomaterial? become a semiconductor or an individual atoms, that mod-
A nanomaterial is an object that insulator at the nanoscale level. ern nanotechnology began..
has at least one dimension in the The second exceptional property

of nanomaterials is that they

can be fabricated atom by
atom by a process called
bottom-up. The information
for this fabrication process
is embedded in the material
building blocks so that these
can self-assemble in the final
product. Finally, nanomate-
rials have an increased sur-
face-to-volume ratio com-
pared to bulk materials. This
has important consequences Figure 2 From a macro-materials to atoms (source: „A snapshot of nanotechnology“ Na-
for all those processes that tional Cancer Institute)
occur at the surface of a
material, such as catalysis
and detection.
Nanotechnology has broad
applications in medicine,
cosmetics (e.g., sunscreams),
food etc. Application of nan-
otechnology in medicine,
specially in cancer treatment
have brought a new inter-
disciplinary research field
– nanomedicine.
THANKS TO OUR GOLD SPONSOR

A LOVE
S T O RY Elma Ferić Bojić
NEUROSCIENCE AND GENETICS
“folded cloth” and a final suffix that brain and spinal cord. In the 1950s
means “little” (Figure 1). In fact the and 1960s both Massachusetts
glyphs represent sounds that all add Institute of Technology as well as
up to a word that approximately Harvard Medical School brought
means “skull-offal,” which is not together studies of biology, chem-
entirely respectful, but logical, con- istry, physics and mathemat-
sidering that the organ was teased ics and became the first to estab-
out through the nose and subse- lish free standing Neuroscience
quently thrown out upon mummi- departments.
fication. Moreover, it was the heart Subsequent advances in tech-
that was regarded as the center of nologies in molecular biology and
intelligence and thus given a lot genetics and a desire to understand
more attention. the link between genes, behavior,
Figure 1 Edwin Smith Surgical Papyrus
Despite the lack of respect that the brain and neurological disor-
and First Symbol for ‘Brain’
was given to the brain, the ancient ders gave birth to a field that com-
physician that conducted the exam- bined the studies of neuroscience
The brain is the center of inations referenced in the papyrus and genetics, namely neurogenetics
thought and emotion, and, essen- was aware of the life-threatening and gave rise to a concept termed
tially, the organ responsible for repercussions of injuries to that the ‘Genetic Brain.’ Even though
how we perceive the world around organ as well as their unexpected the history of genetics dates back
us. Yet it took humans quite some symptoms in the rest of the body. to the late nineteenth century, just
time to comprehend the ins and Head injuries that affect people’s a few decades before the purchase
outs of the center of their exis- ability to speak and walk as well of the papyrus, a time at which
tence. In fact, the first traces of as their visual abilities were also Gregor Mendel published his
neuroscience date back as far as mentioned in various cases in the genetic inheritance concepts, neu-
5000 years ago, to a time when text, and the same motor functions rogenetics began to expand in the
the ancient Egyptians referred to are tested today as means to inves- 1960s, pioneered by the research of
it cryptically. The document that tigate possible brain injuries. Seymour Benzer (Figure 3), who
illustrates this fact is termed the utilized the fruit fly to elucidate
Edwin Smith Papyrus (Figure 1), The investigations into the brain many neurological functions and
named after an Egyptologist who and allusions to it as the center of who is considered by many to be
purchased it in 1896 at which time intelligence varied throughout early the father of neurogenetics.
it was deciphered to have been history. The Middle Ages produced
written in approximately 3000BC. beautiful renditions of the organ No pun intended, but at the heart
However, since ancient Egyptians (Figure 2) and indications that of neurogenetics is the study of the
from this period did not have a humans’ understanding of the very role of genetics in the development
word for the organ, perhaps the tissue they use to think was become and function of the nervous system.
papyrus reveals how they did not more advanced are reflected in In this endeavor, neural character-
think about the brain. While the events in the twentieth century, istics are considered phenotypes
hand, heart and eye each had their whereby universities deemed it and are assumed to be unique to
own unique words, the term used to significant enough to justify aca- individuals, even those belonging
indicate “brain” is made up of four demic programs strictly devoted to the same species. Staying true
glyphs, namely “vulture,” “reed,” to studying the functions of the to its name, neurogenetics draws

“Three pounds of the most complex material

that we’ve discovered in the universe. This is
the mission control center that drives the whole
operation, gathering dispatches through small portals in the
armored bunker of the skull. Your brain is built of cells called
neurons and glia – hundreds of billions of them. Each one of
these cells is as complicated as a city. And each one contains the
entire human genome and traffics billions of molecules in intri-
cate economies. Each cell sends electrical pulses to other cells,
up to hundreds of times per second. If you represented each of
Figure 2 Inner Aspects of the Human Skull
these trillions and trillions of pulses in your brain by a single
Wenceslaus Hollar, 1651, after Leonardo Da
Vinci photon of light, the combined output would be blinding.” ~D.E.
aspects from both neuroscience While simpler diseases and dis- which implies that there is more
and genetics while it focuses on orders have genetically been pin- to a disease than what exists in the
an organism’s genetic code affects pointed, the genetics behind more genetic code.
its expressed traits. In other words, complex neurological disorders is a This points to a presently
in its dynamic nature, it focuses on source of ongoing research. One of dominant field of study termed
the impact of genes on the struc- the new developments that resulted epigenetics, namely an area that
ture and function of the brain and in possible elucidations of genetic focuses on the study of reversible
peripheral nervous system, which variability within the human pop- heritable changes in the function-
means that neurogenetics is a dici- ulation and thereby enabling more ing of a gene without alterations of
pline that aims at elucidating those readily discernible linked dis- the DNA sequences. Examples of
genes that determine or drive our eases are genome wide association these phenomena are mechanisms
individuality including diseases studies (GWAS). And while cur- such as histone de-acetylation and
and dysfunctions. rently no reliable treatment para- DNA methylation of non-coding
Therefore it is safe to claim digms exist that effectively reverse sequences which induce long-term
that mutations in the neurogenetic progressions of neurodegenerative silencing of transcription as a result
sequence may have a wide range diseases, further advancements in of environmental events that cause
of effects on one’s quality of life neurogenetics might yield to ther- long-term developmental changes
and must therefore be studied apeutic drugs that could reverse in chromatin structure. This, in
closely. The earliest studied dis- brain deterioration. turn highlights the present view of
eases include amyotrophic lateral the dynamic and thereby complex
sclerosis (ALS), Alzheimer’s and However, despite the fact that field of neurogenetics that is that
Huntington’s, and they are still at there are an increasing number of the brain, more than any other
the center of much research con- genetic polymorphisms that are organ, is under strong social and
ducted today. The contribution of studied, they still lack to fully environmental influences that can
genetics to the understanding of account for much of the variance have long-lasting effects on brain
cognition and psychiatric disor- seen in many psychiatric illnesses function and wellbeing.
ders has tended to focus on gene and thereby point to gene-envi-
polymorphisms, or the function- ronment interactions that have the But how lucky are we to live in
ally silent differences in DNA frag- ability to account for much more a time of rapidly advancing tech-
ments that are responsible for the of the causes and origins of psy- nology that enables us more so
vast variation in our species, that chiatric disorders. A powerful than ever to comprehend the inner
enabled linkage testing, or the anal- example of this idea is schizophre- workings of the very organ that we
ysis of the linkage between DNA nia, a disease that affects how an use as we attempt to comprehend
and gene defects. Furthermore, individual feels, thinks and acts. it?! How is that for a mind blow,
advancing technology made Those who are affected typically brain twister, mind teaser?
genetic analysis more feasible and have a difficult time distinguish-
available, which is why the last ing between what is real and what
decade of the 20th century was is imagined and with expressing
marked by an increase in identi- normal emotions in social situa-
fying genetic roles in neurological tions. The cause of the disease is
disorders. These advancements still mainly unknown, and while it
included, among many, disorders is only 50% concordant in genet-
such as Parkinson’s, Alzheimer’s, ically identical twins, the severity
Fragile X syndrome, epilepsy as of different life-events may predis-
well as ALS. pose some people to certain psychi- Figure 3 Seymor Benzer and a
atric disorders more so than others Drosophila

FROM GENES
TO THERAPY
Adnan Fojnica
GENE THERAPY
Understand the gene therapy
Gene therapy is a type of bio-

logical therapy that involves alter-
ing the genes inside body’s cells,
usually by introducing nucleic acid
polymers in order to threat specific
disease.
Hereditary units founds on
DNA, are called genes. They
control much of our body’s shape
and function, from making color of
our eyes to regulation of complete
body systems. If genes don’t work
properly, they can cause disease.
Gene therapy seems like ideal solu-
tion for treating a wide range of Figure 1 Inserting the vector in gene therapy
diseases, including cancer, cystic
fibrosis, heart disease, diabetes, to as transfection. recombinant DNA technology in
hemophilia and AIDS. Right now, the most commonly the 1970s, the tools to efficiently
Basically, gene therapy replaces used vector, genetically altered to develop gene therapy become
a faulty gene or adds a new gene carry normal human DNA is virus. available. Scientists used these
in order to cure disease or improve Viruses have evolved a way of techniques to isolate genes,
our body’s ability to fight disease. encapsulating and delivering their
A carrier molecule (called vector), genes to human cells in a patho-
must be used to deliver the correct genic manner. Scientists have
gene to the patient’s target cells. used this capability and manipu-
There are two general approaches late the virus genome to remove
for introducing genes into a cell: disease-causing genes and insert
viral and nonviral. Viral vectors therapeutic genes.
have been used in ~70% of the
clinical trials to date. Viral vectors Walking through history
are extremely efficient at trans-
Figure 2 Dr. Kenneth Culver W. French
ferring genes but can create some The concepts of gene therapy
Anderson, and Michael Blaese pose with
safety risks. Gene transfer medi- first time appears during the 1960s
gene therapy patients
ated by viral vectors is referred to and early 1970s, in the same time as
as transduction. Nonviral vectors experiments of genetically marked identify mutations involved in
are considered to be much safer cells lines and the elucidation of human diseases, manipulate viral
than viral vectors, but at present, mechanisms of cell transformation genomes characterize and regu-
they are fairly inefficient at trans- by the papovavirus and SV40 was late gene expression, and engineer
ferring genes. Gene transfer medi- in progress. various viral vectors and non-vi-
ated by nonviral vectors is referred With the discovery of ral vectors.
Gene therapy first barrier appeared
in the early 1970s, when the term
“gene surgery” was first introduced.
In 1972, Richard Roblin and
Theodore Friedmann pub-
lished a paper in Science called
“Gene therapy for human genetic
disease?” which is cited version of
Stanfield Roger’s proposal from
1970 that “good DNA” could be
used to replace defective DNA in
people with genetic disorders .
In 1983, a group of scientists
from Houston, Baylor College
of Medicine and Texas, proposed
that one day, gene therapy could Figure 3 Seeing into the future of vision therapy, doctors say they can use gene
be a viable approach for treating therapy to reverse blindness.
Lesch-Nyhan disease, a type of “marked TIL cells” helped the several types of immunodeficiency
rare neurological disorder. Namely, researchers learn two things: engi- diseases, cancer, and eye disorders.
this group of scientists conducted neered virus can be used safely in
many experiments in which an humans and which TIL cells work Problems and Prospects
enzyme-producing gene for cor- best for cancer treatment.
recting the disease was injected Finally on September 14, 1990 Since the first clinical gene-therapy
into a group of cells. Based on this, at the NIH Clinical Center, four- trial was conducted (Rosenberg et
researcher theorized the cells could year old girl became the first gene al., 1990), much attention and con-
then be injected into people with therapy patient, after her nine-year siderable promise has been given
the Lesch-Nyhan disease. old girl. They had adenosine deam- to the field. There has been sub-
In 1985, dr. W. French Anderson inase (ADA) deficiency, a genetic stantial public- and private-sec-
and Michael Blease joined their disease which leaves her defense- tor investment, as well as increas-
knowledge in order to demonstrate less against infections. White blood ingly higher levels of research
how cells from people with ADA cells were taken from her, and the activity. Numerous preclinical
deficiency could be modified in normal genes for making adenos- animal-model studies have pro-
tissue culture. They used a retro- ine deaminase were inserted into vided proofs of concept for mul-
virus as a vector to carry the correct them. The corrected cells were tiple potential clinical applica-
ADA gene into the cells. reinjected into her. Each girl was tions. Also, major advances have
In 1986, they tried transferring the given repeated treatments over a been made in understanding vector
correct genes into the bone marrow period of two years. Dr. W. French biology and improving vector
of animals, but in 1988, found that Anderson helped develop this land- design and production.
transferring them to white blood mark clinical trial when he worked However, clinical progress has
cells was much more successful, at the National Heart, Lung, and been slow. A major setback for the
with a dramatic increase in the Blood Institute. field occurred in September 1999,
amount of the correct genes being The development of suitable when a widely publicized death
taken up by cells, even if number gene therapy treatments for many resulting from a gene-therapy trial
of them wasn’t still enough. genetic diseases and some acquired was reported, Jesse Gelsinger, an
1988 - The scientists decided to use diseases has encountered many 18-year-old man, died in a clin-
white blood cells (T cells), in tissue challenges and uncovered new ical trial at the University of
culture, instead of bone marrow insights into gene interactions Pennsylvania, which used a modi-
cells. This switch greatly increased and regulation. Further develop- fied Ad5 vector to deliver the gene
the number of correct genes taken ment often involves uncovering for ornithine decarboxylase, a defi-
up by the cells in the animal exper- basic scientific knowledge of the cient hepatic enzyme.
iments. The experiments were so affected tissues, cells, and genes, Fortunately for the gene therapy
successful that the team began to as well as redesigning vectors, for- field, less than 1 year after
look for ways to test the delivery mulations, and regulatory cassettes Gelsinger died, the first report of a
system in people. for the genes. dramatically successful gene-ther-
In 1989, the researchers teamed While effective long-term treat- apy trial was published. In 2000,
up with Dr. Steven Rosenberg, ments for anemia, hemophilia, Cavazzana-Calvo and her col-
to test how safe and effective the cystic fibrosis, muscular dystro- leagues in Paris described results
gene therapy would be in cancer phy, Gauscher’s disease, lyso- from a study involving two children
patients. The team cultured tumor somal storage diseases, cardiovas- suffering from a severe combined
infiltration lymphocytes cells from cular diseases, diabetes, and dis- immunodeficiency disorder (SCID-
people with malignant melanoma eases of the bones and joints are XI), which had restricted them to
and manipulate a virus to put a elusive today, some success is life in an isolated environment.
DNA marker into those cells. These being observed in the treatment of

I S ALZHEIMER’S
IN YOUR GENES?
Džana Mulaomerović
ALZHEIMER´S DISEASE
These symptoms occur because
the early damage in Alzheimer’s
is usually in hippocampus, part of
a brain that has major role in day-
to-day memory. Memory for life
events that happened a long time
ago is often unaffected in the early
stages of the disease. Because of
memory loss, person may have
everyday difficulties such as: lose
items around the house, struggle
to find the right word in a conver-
sation, forget names, forget about
recent conversations or events, and
forget appointments or anniversa-
ries. Individuals with Alzheimer’s
also have, or would develop prob-
lems with other aspects of think-
ing, reasoning, perception or
communication.
Figure 1 If you have a brain, you are at risk for alzheimer
The genetics of disease
Alzheimer´s disease is a degen- of memory, paranoia and shrink-
erative disease of brain that results age of the brain. Psychiatrist The second most import-
in dementia or loss of memory, Emil Kraepelin coined the term
ant cause of the disease is family
judgment, and ability to function. “Alzheimer’s disease” in a medical
history. Twin and family studies
The disease usually affects indi- book in 1910. By this time several
suggest that genetic factors may
vidual older than 65 but it is not more cases with similar symptoms
play a major role in at least 80% of
a normal part of aging although were reported. In 1976, the neurol-
AD cases. Certain genes make you
it is one of the major risk factors. ogist Dr. Robert Katzman declared
more likely to develop Alzheimer’s
Alzheimer’s is considered to be a AD the most common form of disease, however, genetic risk
cause of 60 to 80 % of all dementia. dementia which brought aware-
factors are just one of the factors
ness to the disease. involved in getting Alzheimer’s
The discovery of Alzheimer’s disease.
disease (AD) Symptoms of Alzheimer’s AD is caused by any one of a
number of different single-gene
AD is named after German For most people with mutations on chromosomes 1, 14
doctor Alois Alzheimer. The first Alzheimer’s, the earliest symptoms or 21. These mutations involve
case of Alzheimer’s was reported is memory loss. Patients may have the gene for the amyloid precur-
by Alois Alzheimer in his patient difficulties recalling recent events sor protein (APP) and the genes
whose symptoms included loss or learning new information. for the presenilin 1 and presenilin

Alzheimer’s statistics
•Nearly 44 million people have
Alzheimer’s or a related dementia
worldwide
•Only 1 in4 people with disease have
been diagnosed.
•Alzheimer’s disease is listed as the
sixth-leading cause of death in the U.S.
•Alzheimer’s is most common in
Western Europe
•The cost of caring for Alzheimer’s
patients in the U.S was $226 billion
in 2015
•Life expectancy after an Alzheimer’s
is diagnosed is 4 to 8 years.
•2 in 3 people with Alzheimer’s disease
are women.
2 proteins. Each of these muta- disease can be prevented, slowed

tions causes abnormal proteins for- Treatment of Alzheimer’s or stopped. Scientists believe that
mation. Individuals with muta- early detection is key to preventing,
tions in any of these three genes U.S. Food and Drug slowing and stopping Alzheimer’s
tend to develop Alzheimer’s symp- Administration (FDA) has been disease.
toms before age 65, sometimes in approved 6 medicines to treat the Studies suggest that major
early 30s, while majority of people disease. The drugs temporarily causes of Alzheimer’s include a
with Alzheimer’s have late-on- improve symptoms of Alzheimer’s combination of genetic, environ-
set disease, occurring at age 65 disease by increasing the amount of mental, and lifestyle factors that
or later. Early-onset Alzheimer’s neurotransmitters in the brain. The affect a person’s risk for develop-
disease occurs in people age 30 to effectiveness of the medicines vary ing the disease.
60 and counts for 5% of all indi- from person to person but none of Studies also suggest that
viduals with Alzheimer’s. them stops the damage to neurons people with fewer years of formal
caused by disease. education are at higher risk for
Chances of getting AD Alzheimer’s and other demen-
tias than those with more years
Alzheimer disease is inherited of formal education. Some scien-
in an autosomal dominant pattern. tists believe that having more years
Individuals inheriting a mutation of of education makes a “cognitive
APP or presenilin 1 genes are guar- reserve”. The cognitive reserve
anteed to develop Alzheimer’s. A hypothesis suggests that having
child whose biological mother or more years of education increases
father carries a genetic mutation the connections between neurons
for early-onset FAD has a 50/50 which enables brain to compen-
chance of inheriting the same sate for the early brain damages
mutation. If the mutation is inher- Figure 3 Seymor Benzer and a of Alzheimer’s by using alternate
ited, the child has a very strong Drosophila routes between neuron commu-
probability of developing early-on- nications to complete a cognitive
set FAD. Those inheriting a muta- tasks.
tion in the presenilin 2 gene have According to World Health
a 95% chance of developing the Even though Alzheimer’s Organization, number of people
disease. But not everyone who has disease was first identified more living with dementia will triple till
mutations is getting Alzheimer’s, than 100 years ago, more than 70 2050. Alzheimer’s kills more than
and this suggest that other genetic years passed before it was recog- breast and prostate cancer com-
and environmental factors are nized as potential “major killer”. bined. Efforts to cure the disease
likely involved in development of The disease begins before any include Alzheimer’s disease
disease. Researchers indicate that symptoms can be noticed. Research Sequencing Project and wide range
many more genes that haven’t been has revealed a lot about disease, but of genomic studies, but till the time
identified yet could affect the risk much more has to be discovered we found answers, everyone with
of development of Alzheimer’s about the precise biologic changes a brain is at risk for Alzheimer’s.
disease. that cause Alzheimer’s, and how

A,C,G & T
Anis Čilić
BIOINFORMATICS
A, C, G & T are ‘’letters’’ that solve some of the crucial questions analyse date obtained from Human
write ‘’book of life’’ inside each in life science and lay a foundation Genome Project and other genome
of us. It took too long for humans of science which, today, play great sequencing, and also to discover
to decipher these ‘’letters’’ and role in genetics, medicine, crimi- new information from existing
start reading ‘’book of life’’ nalistics, etc. data.
which keeps secrets inside them. Let’s take a look on the some
Begining of this process is con- So, what is bioinformatics? of the most important events that
nected with the development of contributed to developement of
technology. After World War II, Bioinformatics is scienece bioinformatics:
technology, which was used mostly which uses knowledge from One of the main landmark
in military puproses, became avail- biology, computer science and discoveries was prediction of the
able for scientists. Many scientific statistics to analyze different data duoble helix for DNA by Watson &
fields starts to implement technol- such us sequences of nucleic acids Crick in 1953. Their work helped
ogy in their researches. Progression and proteins, gene expression data, us in understanding genetic struc-
of technology, especially comput- different molecular pathways and ture and human genome and served
ers, leads to rapid development of nowdays different clinical data as basis for later genomic studies.
science. These technological ino- also. In 1955 first protein sequence
vations allowed more precise and Development of bioinformat- (bovine insuline) was analyzed
more detailed analysis of organis- ics was due to huge amount of data by Frederick Sanger. This dis-
ams and species and microworld created by frequent sequencing. covery earned him Nobel prize in
and it’s secrets start to appear... These data were able to be stored Chemistry in 1958. This was the
Information was accumulating and analyzed only by computer. begining of ‘’sequencing journey’’
as new researches were done. It The main purpose of the bioin- which will leave a mark on a
became imposible for human brain formatics is to store, compere and science and change it’s perspective.
to store, follow and process all
these things, so artificial memory
came to the fore. With the usage
of computers, science developed
rapidly and thus science was divid-
ing in some new fields. Biology,
informatics and statistics combined
together in one field to form bio-
informatics, which, for the first
time, appeared in literature in 1991
(although there are some records
that this term was used in conver-
sation in 1985).
Although the founders of this
science did not use term ‘’bioin-
formatics’’ to describe their field of
work, they knew how to make most
of computer technology, mathe- Figure 1 Huge amount of data created by frequent sequencing were able to be
matics and biology and on that way stored and analyzed only by computer.

Sanger’s work led other research-
ers to sequence different proteins,
so in 1965, Margaret Dayhoff
published initial edition of the
Atlas of protein sequences. It is
the first public database of protein
sequences wihch consisted of
totally 65 protein sequences that
were listed in the Atlas. This study
played important role in develop-
ing of bioinformatics and data-
bases such as GenBank. During
the year 1965, other great work
was done, Robert Holley published
first sequence of RNA (alanine
tRNA from Saccharomyces cer-
evisiae) and beat Sanger in com-
petition to be first who publish
RNA sequence. But it did not take
to long for Sanger to sequence
RNA, in 1967, Sanger and group
of his co-workers published the
sequence of the 5S ribosomal RNA Figure 2 Intediscipllinary is bedrock of Biomedical Engineering
from E.Coli. Researchers con-
tinue to make effort in the field of
sequencing, so by 1970 first algo-
rithm for sequence alignement
and comparision was created by
Figure 2 That’s how Sanger sequencing works
Needleman-Wunsch. While biolo-
gists/geneticists were putting a lot and information was amassing, make-up the World Wide Web
of effort in sequencing, computer first databeses started to appear. which allowed sciencist to reach
engineers achieved great results In 1986 SWISS-PROT database all new analysis, data, reseaches
in their researches. In 1969, first was created. Same year, word from all around the world.
packet swithing network named ‘’Genomics’’ appeared for the first 1990s are years of genome sequenc-
ARPANET was created. This work time to describe the scientific disci- ing. During this period first genoms
was one of the techincal founda- pline of mapping, sequencing, and are sequenced: in 1995 bacteria
tion to the Internet, which firstly analyzing genes. The 1988 was genome & in 1996 first eukaryotic
appeared in 1974, when Vint Cerf turbulent year: NCBI was estab- genome of Saccharomyces cerevi-
and Robert Khan developed the lished at National Cancer Institute siae. All resources were invested
concept of connecting networks and then Human genome organi- in sequencing of human genome,
of computers. In 1975 Bill Gates sation (HUGO) was founded. This and first large achivement was
and Paul Allen founded Microsoft year was also significant because in 1999 when first human chro-
Corporation. FASTA algorithm for sequence mosome was sequenced. HGP
On the other side, Sanger and his comparision is pubished, and one was large investment - estimated
colleagues continued research in of the most important project in costs were 1$ per base pair, and
sequencing, they tried to obtain history of bioinformatics was ini- costs of HGP reached 2,7 billion
novel DNA sequencing method tiatet - HGP (Human Genome $. Fifty years after Watson’s and
which will allow sequencing of Project). Crick’s landmark discovery, human
larger segments of DNA. Novel Human DNA sequence was genome sequence was compleated
method for sequencing DNA known unknown for a long period of time. and journey through ‘’book of life’’
as Sanger method was published Great effort was made in sequenc- was started.
in 1977. Discovery of this method ing human genome, and finally, in Although great work was done and
earned Sanger second Nobel prize 1990, HGP officialy begin and bio- large amount of data has been pub-
in Chemistry in 1980. All of this informatics started to gain attention lished, there are a lot more to do and
led to publication of first com- in a large scale. Same year BLAST improve in this field. Nowdays bio-
plete gene sequence of and organ- program is implemented and this informatics has important role and
ism (phage) in 1980. One year later allowed sciencists to compare is increasingly interconnected with
Smith and Waterman created algo- sequences (nucleotide or protein) medicine. Many researches were
rithm for sequence alignment and and find matches between differ- done and data was obtained, and
during the same year IBM intro- ent organisms.Major milestone now is bioinformatics turn to find
duced Personal Computer to the occured in 1991 - the research correlation between all these data
market. institute in Geneva announced the and offer appropriate solutions.
As new researches were performing creation of the protocols which

A TRIP DOWN
M E M O RY L A N E
Dijana Sejdinović
MOLECULAR GENETICS
The history of molecular genet- enzyme that catalyzes a quite differ- deoxyribonucleic acid (DNA). This
ics is very rich and colorful in the ent reaction in the general metab- principle, obtained from dead bac-
events as well as characters that olism of the cell (heterocatalysis). terial cells of one strain, was shown
contributed to its development. In 1928, scientists didn’t know to transfer a characteristic from that
Before talking about the history it yet that DNA carried genetic infor- strain to another strain. This extract
is important to understand the term mation, but they knew that there contained only the minutest traces
of molecular genetics. Genetics is was something that could cause of protein; the rest was DNA.
not made up of two sciences, one bacteria to transform from one type Geneticists knew about this work,
molecular and one non-molecular to another. Griffith’s experiment but the majority assumed that the
even though the term molecular is was the first experiment suggesting DNA was acting as a mutagen,
still widely used among scientists. that bacteria are capable of trans- altering the genetic constitution of
Molecular genetics is an investi- ferring genetic information through the recipient cell, not transferring
gative approach that involves the a process known as transformation. a gene.
application of laboratory methods Griffith’s findings were followed Making the case for DNA
and research strategies. This by research in the late 1930s and acting as the repository of the
approach presupposes basic knowl- early 40s that isolated DNA as the genetic specificities of the organ-
edge about the expression and material that communicated this ism called for establishing the kind
regulation of genes at the molec- genetic information. of structure DNA possesses that
ular level. Philosophical interest The protein nature of the would permit it to function thus.
in molecular genetics, however, gene was called into question in Known to be a long-chain mole-
has centered, not on investigative 1944 when three Rockefeller sci- cule, its backbone composed of
approaches or laboratory methods, entists, Ostwald Avery, Colin sugar rings attached to one another
but on theory. Early philosophical MacLeod, and Maclyn McCarty, by phosphate arms, it has only
research concerned the basic theory published their identification of the four kinds of side-groups attached
about the make-up, expression, and so-called transforming principle as to the sugars—the bases adenine,
regulation of genes.
The first half of 20th century
is often referred as classical genet-
ics. Morgan had set the tone, treat-
ing the gene as an abstraction and
the Mendelian analysis of exper-
imental data as an algorithm. In
1922 Muller had drawn the analogy
between bacterial viruses and
genes. During this period a concern
of identifying gene products chem-
ically has continued. Nonetheless,
the chemical constitution of the
gene remained vague, and geneti-
cists were content to assume it was
a protein of a special kind: one that
can both catalyze its own reproduc-
tion (autocatalysis) and provide an Figure 1 The Avery–MacLeod–McCarty experiment

does not use the most mathemati-
cally elegant solution. The amino
acid sequences being discovered in
proteins showed no limitations on
the permutations of nearest neigh-
bors of the kinds required by these
mathematical codes. Therefore is
the need to turn to the biochem-
ists and the geneticists to solve
the problem. They attacked it with
vigor, and by 1966 the full details
of the code were established. But
the major transformation of genet-
ics came with the introduction
in the 1970s of the techniques of
recombinant DNA technology that
made directed manipulation of the
genetic material possible.
In 1972, Walter Fiers and his team
at the University of Ghent were the
first to determine the sequence of
a gene: the gene for Bacteriophage
MS2 coat protein. Richard J.
Roberts and Phillip Sharp discov-
ered in 1977 that genes can be split
into segments. This led to the idea
that one gene can make several
proteins. The successful sequenc-
ing of many organisms’ genomes
has complicated the molecular
definition of genes. In particular,
Figure 2 Watson and Crick – discovery of DNA double-helix genes do not seem to sit side by
side on DNA like discrete beads.
guanine, thymine, and cytosine. it offered crucial support. Yet it was
Instead, regions of the DNA pro-
This contrasts unfavorably with not until 1958 that evidence from
ducing distinct proteins may
the proteins, for they have twenty quite different approaches wasoverlap, so that the idea emerges
different amino acids that can be published confirming predictions
that “genes are one long contin-
arranged in countless different made from the model. Only thenuum”. It was first hypothesized in
sequences. did interest in the structure become
1986 by Walter Gilbert that neither
The proposal of the double-helical widespread. DNA nor protein would be required
model of DNA by James Watson In genetics the work of Sydneyin such a primitive system as that
and Francis Crick in 1953 over- Brenner, Francis Crick, Leslieof a very early stage of the earth
came this difficulty because their Barnett, and R. J. Watts-Tobin,
if RNA could perform as simply
structure, a cylindrical one with the using mutagenesis in bacteriophage
a catalyst and genetic information
four kinds of bases packed inside to establish the general nature of
storage processor.
the two helically entwined sug- the genetic code, was published
While these discoveries set the
ar-phosphate backbones, permits in 1961. It marked a success in
tone for scientist all over the world
any kind of sequence of the bases. applying the genetic approach to
and started a race for research
Moreover, these bases are paired by questions at the molecular level,
and development of molecular
weak bonds across from one base to for they showed that the genetic
genetics, the best is yet to come.
its opposite number, adenine with message is composed of triplets
Everyday technology is progress-
thymine, guanine with cytosine. of bases, read from a fixed start-
ing and opening new possibilities
Watson and Crick therefore visu- ing point, in only one direction, and
for improvements and new con-
alized the duplication of the gene without commas between the trip-
cepts especially because the molec-
as the result of separating the two lets. Meanwhile biochemists had
ular genetics is based on laboratory
chains of the parent double helix been establishing the identity of the
techniques. When we are talking
and attaching free bases to those amino acids coded by given triplet
about history of molecular genetics
now unpaired in accordance with sequences of bases. we can surely say that because of
the above complementary relations. It was the physicist George Gamow
fast development and big interest,
The work of Rosalind Franklin and who had first suggested a DNA code
the ideas that are currently unimag-
Maurice Wilkins in London had for the amino acids in proteins. He
inable are soon going to become
not only aided Watson and Crick had hoped the right code could be
history.
in devising their proposed struc- established by mathematical rea-
ture, but when published alongside soning but had to accept that nature
9 G R E AT E S T
DISCOVERIES
Ahmed Osmanović
GENETIC TIMELINE
2 1 8 61865-Heredity
5-
Transmitted
Heredity
in Units
Transmitted in Units
Gregor Mendel, through his work

on pea plants, discovered the fun-
damental laws of inheritance. He
deduced that genes come in pairs
and are inherited as distinct units,
one from each parent. Mendel
tracked the segregation of paren-
tal genes and their appearance in
the offspring as dominant or reces-
sive traits. He recognized the math-
ematical patterns of inheritance
from one generation to the next.
After his death, Mendel’s personal
papers were burned by the monks.
Luckily, some of the letters and doc-
uments generated by Mendel were
kept in the monastery archives.
1 1859- Natural Selection

Natural selection is the
process by which species adapt to
3 1 91911-Chromosome
11 - C h r o m o s o m e s
C a r Carry
ry GenesGenes
their environment. Natural selec- Thomas Hunt Morgan and his stu-
tion leads to evolutionary change dents study fruit fly chromosomes.
when individuals with certain char- By painstakingly examining thou-
acteristics have a greater survival sands upon thousands of flies with
or reproductive rate than other indi- a microscope and a magnifying
viduals in a population and pass on glass, Morgan and his colleagues
these inheritable genetic character- confirmed the chromosomal
istics to their offspring. Simply put, theory of inheritance: that genes
natural selection is a consistent dif- are located on chromosomes like
ference in survival and reproduc- beads on a string, and that some
tion between different genotypes, genes are linked (meaning they
or even different genes, in what we are on the same chromosome and
could call reproductive success. [A always inherited together). One of
genotype is a group of organisms his students, Alfred Sturtevant, cre-
sharing a specific genetic makeup.] ated the first ever genetic map, a
landmark event in genetics.
6 1972- 1972- First

First
b irecombinant
nant
recom-
DNA
DNA
The first production of recombi-

nant DNA molecules, using restric-
tion enzymes, occurred in the early
1970s. Recombinant DNA technol-
ogy involves the joining of DNA
from different species and subse-
8
quently inserting the hybrid DNA
4
into a host cell, often a bacterium. 1983- PCR Invented
11952-Genes
9 5 2 - G e nAre
e s Made
Are
M a d e of DNA
of DNA The polymerase chain reac-
tion (PCR) technique, invented in
Alfred Hershey & Martha Chase 1985 by Kary B. Mullis, allowed
show that only the DNA of a virus scientists to make millions of
needs to enter a bacterium to copies of a scarce sample of DNA.
infect it, providing strong support The technique has revolutionized
for the idea that genes are made many aspects of current research,
of DNA. Alfred Hershey was a including the diagnosis of genetic
phage geneticist who, with his defects and the detection of the
research assistant, Martha Chase, AIDS virus in human cells. The
did one of the most famous exper- technique is also used by crimi-
iments in molecular biology. The nologists to link specific persons to
“blender” experiment proved that samples of blood or hair via DNA
DNA carried genetic information. comparison. PCR also affected
evolutionary studies because large
quantities of DNA can be manufac-
7
tured from fossils containing but
1 9 DNA
1975- 7 5 Sequencing
- D N A trace amounts.
Two groups, Frederick

Sanger and colleagues, and Alan
Maxam and Walter Gilbert, both
develop rapid DNA sequencing
methods. The Sanger method is
most commonly employed in the
lab today, with colored dyes used
to identify each of the four nucleic
acids that make up DNA. In the
past, scientists used radioactivity
to mark the ends of DNA chains;
9
now, they use colored dyes.
22003-
0 0 3 - Completion
C o m p l e t iof
on
othe
f Humant h e Genome
Human
5
Project
1953- DNA Double Helix
The Human Genome Project (HGP)
In 1953, the race to deter- was one of the great feats of explo-
mine how these pieces fit together ration in history - an inward voyage
in a three-dimensional structure of discovery rather than an outward
was won by James Watson and exploration of the planet or the
Francis Crick at the Cavendish cosmos; an international research
Laboratory in Cambridge, England. effort to sequence and map all of
They showed that alternating the genes - together known as the
deoxyribose and phosphate mole- genome - of members of our spe-
cules form the twisted uprights of cies, Homo sapiens. Completed in
the DNA ladder. The rungs of the April 2003, the HGP gave us the
ladder are formed by complemen- ability, for the first time, to read
tary pairs of nitrogen bases — A nature’s complete genetic blueprint
always paired with T and G always for building a human being.
paired with C.

KEEP
CALM
AND
LEARN
GENETICS

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Semestral magazine of Genetics and Bioengineering Department

ISSUE 01/MAY 2016

FO R E N S IC GENET ICS ALZHEIMER’S DISEASE N E U RO SCIE N CE G E N E TH ER A PY

Genetics for CSI Question??? A Love Story Disease treatment?

LEARN NEW THINGS ABOUT HISTORY OF GENETICS

Genetics is more than a

BurchGene magazine Broaden your horizons

Lector: For realization of this project, we spent a lot of time

Publisher: Using this opportunity we would like to thanks to everyone

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8 GENETICS ON CRIME SCENE

14 SCIENCE ABOUT SMALL

18 FROM GENES TO THERAPY

20 IS ALZHEIMER´S IN YOUR GENES?

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1694th - Rudolph Camerarius,

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conducted extensive experi- biologist discovers colored bodies, medicine.

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Researchers Thomas Hunt Morgan, and not only DNA.

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micro-arrays, positron emis-

As for education, the ear-

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Environment in the bio- in Bosnia and Herzegovina by published in IFMBE Proceedings

Don’t miss #cmbebih2017!

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nanometre scale. Nanomaterials

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of nanomaterials is that they

THANKS TO OUR GOLD SPONSOR

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“Three pounds of the most complex material

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Gene therapy is a type of bio-

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2 proteins. Each of these muta- disease can be prevented, slowed

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Gregor Mendel, through his work

1 1859- Natural Selection

6 1972- 1972- First

The first production of recombi-

Two groups, Frederick

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