What is Genetic Different Kinds OF
Disorder? Genetic Disorder
Genetic Disorder
 A genetic disorder is an illness
caused by changes in a person’s
DNA.
 These mutations? can be due to an
error in DNA replication? or due to
environmental factors, such as
cigarette smoke and exposure to
radiation, which cause changes in
the DNA? sequence.
 The human genome? is a complex
Name: Carlyle Jan-Kyle O. Bailey set of instructions, like a recipe book,
Section:10-Sapphire
directing our growth and
development.
 However, unlike a printed book, the
human genome can change.
 These changes can affect the
individual bases? (A, C, G or T) or
much larger chunks of DNA or
even chromosomes?.
 Albinism - is a group of genetic
conditions in which a person has no or
very little melanin pigment in their skin,
hair and eyes.
 Angelman syndrome - is a genetic
condition that affects the nervous
system and causes severe physical and
intellectual disability.
 Ankylosing spondylitis - is a kind of
arthritis that affects the joints and
ligaments of your spine. ‘Ankylosing
spondylitis can affect other large joints,
and can be related to problems in your
eyes, skin, bowel and heart.
 Apert syndrome - is a rare condition,
usually evident at birth, that causes an
abnormally shaped skull and fused
fingers and toes. Other body parts and
organs are also affected.
 Congenital adrenal hyperplasia - is an
inherited group of conditions that affect
the body's hormone levels. People who
have congenital adrenal hyperplasia
may experience health problems, but
with treatment, many can also enjoy a
normal lifest
 6 SINGLE GENE
INHERITANCE DISORDERS
 Cystic fibrosis is a hereditary disease
that affects the lungs and digestive
system. The body produces thick and
sticky mucus that can clog the lungs and
obstruct the pancreas.
 Alpha thalassemia is caused by
reduced or absent synthesis
of alpha globin chains, and beta
thalassemia is caused by reduced or
absent synthesis of beta globin chains.
 Sickle cell anemia (sickle cell disease)
is a disorder of the blood caused by an
inherited abnormal hemoglobin (the
oxygen-carrying protein within the red
blood cells).
 Marfan syndrome (MFS) is a
genetic disorder of the connective
tissue. The degree to which people are
affected varies. People with Marfan tend
to be tall and thin, with long arms, legs,
fingers and toes.
 Fragile X syndrome (FXS) is a
genetic disorder characterized by mild-
to-moderate intellectual disability.
 Huntington's disease (HD) is a fatal
genetic disorder that causes the
progressive breakdown of nerve cells in
the brain.
Celebrities with
Rare Diseases
George Clooneyn was diagnosed with
Bell’s palsy when he was a 14. This rare
neurological condition often results in
weakness of the facial muscle and
temporary paralysis of the face.
Gaten Matarazzo has cleidocranial
dysplasia, a condition characterized by
absent collarbones, delayed loss of teeth,
and delayed development of the skull.
Gaten has done many interviews to raise
awareness about his condition, including the
bullying he experienced as a child. His fans
have credited him for helping them feel
accepted.
Jimmy Kimmel has narcolepsy, a rare
neurological sleep disorder causing people
to experience unexpected bouts of
drowsiness and sleepiness. He has a mild
form of it, but has discussed that it can
make his job as a writer challenging when
he’s constantly falling asleep.
Sia, singer-songwriter of hits like “Titanium”
and “Chandelier” announced in 2010 that
she has Graves’ disease, which causes the
thyroid to be enlarged, leading to
hyperthyroidism. Symptoms can include
muscle weakness, fatigue, and bulging of
the eyeballs. Sia has had to cancel tours
and appearances before when her
symptoms flare.