Welcome,

I am Dr Bonnie Feldman, also known as DrBonnie360 and I am

delighted to be here today. In my travels through @me and space, I have
worn a lot of spacesuits. First, as a prac@cing clinical den@st, I was an
early experimenter in the world of healthcare behavior change.
AEer my MBA, I became a Wall Street analyst, exploring the world of
nance and mee@ng hundreds of healthcare companies.
Today, I am thrilled to be a digital health analyst who has interviewed
more than 200 emerging data companies, aKended over 50 digital health
mee@ngs and spoken at about a dozen. For personal, scien@c and
professional reasons, I am now excited to be working with the
autoimmune community.
My vision is to aKract researchers and funding to bring to the study of
autoimmune disease the same visibility as research in cancer.

As you can see here, my own Gene@c Map shows 10 rela@ves with various

autoimmune diseasesincluding people marrying into the family!

You all probably know someone living with an autoimmune disease.

Did you know that there are 50M Americans with over 100 dierent kinds of
autoimmune diseases?

Although that is 16% of the US popula@on--a number equal to the number of
Americans living with heart disease and cancer combined--autoimmune
diseases get only $1B in NIH funding, merely 6% of the NIH research budget. In
contrast, cancer aects 20M people and receives $7B in research funding.

The lonely voices of autoimmune disease tell stories about dealing with chronic
disease in the prime of life.
Here is what they have to say:
Play voices
What is most alarming in the increasing incidence of mul@ple autoimmune diseases
in young adults.
A 2012 ar@cle published in Autoimmune Disease called Introducing
Polyautoimmunity, Secondary Autoimmune Diseases No Longer Exist suggests that,
despite widely diering symptoms, autoimmune diseases share a substan@al degree
of immunopathology. (You can nd several more references on my web site)
Building upon these common features, Dr. Yehuda Shoenfeld runs an autoimmunity
center in Israel, where all autoimmune pa@ents are seen under one roof.
Unlike in the US, where autoimmune diseases are s@ll treated by body part: that is,
for Crohns disease you see a gastroenterologist, for Rheumatoid Arthri@s you see a
Rheumatologist and for Mul@ple Sclerosis, you see a neurologist, in Dr. Shoenfelds
Israeli clinics all these pa@ents are seen by autoimmunologists.
Since many autoimmune diseases respond to the same medica@ons, when you think
about it, to get closer to a cure, we need to think about the underlying cause of all
autoimmune diseases.

As we focus on autoimmunity, the best news is we have entered an

exci@ng @me with many new research and development opportuni@es.
I see several key factors
1. We are genera@ng new, big data sets, including emerging system
biology elds based on big data.
2. We have developed new & beKer data-handling tools.
And
3. Emerging technical infrastructure that supports both factors

For data, what is remarkable is the con@nuing exponen@al growth curve.

The big data movement, is growing from petabyte or exabyte scale to even zetabyte-
which is 21 zeros!
In Systems- The emergence of dynamic systems biology elds, including genomics,
microbiomics and immune repertoire sequencing, all relevant to autoimmune
research.
Infrastructure advances have enabled sequencing a human genome for $1,000.
Likewise, our analy@cs toolkit con@nues to expand.
So, we now can gather, store, analyze and move extremely large data sets crea@ng
new opportuni@es for scien@c explora@on.
Two emerging examples of this include
Bio-Indie, the worlds rst synthe@c biology accelerator, oering biologists tools and
nancial support needed to aKack big problems.
Illuminas Accelerator program, which invests in new ideas and provides laboratory
infrastructure to help develop them.

These are exci@ng @mes, because the new tools are helping us to understand omics
data and create new models of complex disease- such as autoimmune disease.
With improved data and tools, I see three big picture trends emerging in
autoimmune research:
The rst, which I will call boKom-up, represents individuals or small groups
collec@ng their own data, either out out of curiosity or to understand their own
diseases.
The second, which I will call top-down, are large ini@a@ves, typically government or
popula@on studies collec@ng or bringing together mul@ple data sets, in order to
beKer understand the causes of diseases, discover pathways and biomarkers and
support developing diagnos@cs and drugs.

The third is convergence- innova@ons that combine boKom up and a top down data
with the new tools and infrastructure. This is needed to build companies, develop
marketable products and apply discoveries to clinically benet pa@ents.
Importantly, infrastructure is being built to support each of these 3 trends- boKomup, top-down and convergence.

BoKom up has lower barriers to entry and is more advanced than top down and has more
ac@vity.
Who is familiar with the no@on of ci@zen science?
Ci:zen Science- scien@c research conducted, in whole or in part, by amateur or
nonprofessional scien@sts.
Larry Smarr, who is head of Calit, has also been doing ci@zen science, who has been tracking 150
personal bio-variables for over 5 years, actually discovered his late onset Crohns disease before
his doctors. You can read the details of his adventure on my blog Autoimmunity Central.
Other types of ci@zen science projects are found in the Quan:ed Self movement- a global
collec@ve of personal experimenters using mobile devices to collect and analyze their own data.
The ability to manipulate large data sets as well as interest from ci@zen scien@sts and others has
encouraged microbiome research. Projects such as American Gut, NIH and Ubiome are all
working on mapping and char@ng the mysteries of the microbiome in both health and disease.
This is crea@ng a growing body of evidence sugges@ng that the gut is an organ of immunity.
Although I was that the diges@ve system was simply a transporter of nutrients and an exporter
of waste, we now know that a leaky gut can have increased intes@nal permeability. This damage
to the diges@ve tract is such that toxins and undigested food par@cles travel into the
bloodstream. These invaders cause the immune system to go into aKack mode.
There is also evidence sugges@ng there is a gut-brain axis-through which gut condi@ons,

When you think about it, pa:ent communi:es are an established form of ci@zen science. Da@ng

back to older pa@ent communi@es such as Pa:ents like me, now pa@ent communi@es are

popping up everyday and come in many avors.


In Crohns for example, there is Cronology, My Crohns by My Health Teams and there is also
Smart Pa:ents. Each of these communi@es oers both social support and disease specic
informa@on.

The Type 1 diabetes communi@es have been par@cularly ac@ve. One is Tidepool, started by
several dads of kids with type 1 diabetes, to create one central and easy-to-use loca@on for
pa@ents to visualize all of their data at once.

Another innova@ve example is T1D Exchange. It has a front-end pa@ent community and a backend biobank that aims to help pa@ents from research, to clinical trials to living with the disease.
Genng the right pa@ents into the right clinical trials is a @me consuming and costly challenge.
Now companies, like TLS, uses pa@ent, researcher, and doctor insights to design clinical trials.

The recent launch of Apple ResearchKit, a new open source plaoorm has enabled unprecedented
trial recruitment, allowing Stanford to enroll over 10,000 trial par@cipants in a healthy heart study
in one day. Using standard techniques it would take a year and 50 medical centers to sign up this
many clinical trial par@cipants.





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With new data sets, improved analy@cs and infrastructure, the amount of ac@vity and the rate

of innova@on is staggering.


But theres more!


In network science and systems biology, top-down approaches may hold a key to unlocking
the mysteries of health and disease. This is a major shiE in- moving away from been called
reduc@onism to broader look at interrela@onships and dynamics.

Take Google Baseline for example. This is a moonshot project to collect molecular and gene@c
informa@on from thousands of people to create a composite picture of a healthy person.
In autoimmunity, we also need beKer ways to describe health and disease.

It is thought that autoimmune disease is triggered by complex interac@ons of gene@c,
epigene@c and environmental factors. Thats probably one reason why it takes the average
autoimmune pa@ent more than 3.5 years and 5 doctors to get a diagnosis. Even more, many
pa@ents present with clusters of autoimmune diseases and it is hard to tease out which one to
focus on rst.

Eric Schadt, of the Icahn School of Medicine, in 2012 wrote a review ar@cle en@tled Network
Enabled Wisdom in Biology, Medicine and Health Care in which he discusses how mapping
molecular networks is cri@cal to key to fueling precision medicine.

A big hope for the autoimmune community is to apply our new tools and big data
analy@cs to systems biology and immunology.
Using computa@onal modeling to characterize the immune system repertoire we
hope to be beKer able to predict pa@ent response to environmental challenges and
beKer characterize an individuals autoimmune disease
Noteworthy published research that supports using a data network analysis
approach include
1. A Feb 2015 Science paper en@tled
Uncovering Disease-Disease rela@onships though incomplete Interactome
The human interactome is a map of biologically relevant interac@ons.
Although mapping the interactome is far from complete, it has reached sucient
coverage to use the tools of network science and look for new disease rela@onships,
especially those of autoimmune disease.
2. A Feb 2014 Nature publica:on en@tled the Gene@c and Epigene@c ne
Mapping of causal autoimmune disease
Collabora@on enabled researchers at Yale, UCSF and the Broad Ins@tute to develop a
math model and created maps of dierent cell types that enabled them to iden@fy
variants that caused the immune response to go awry.This is noteworthy because the
molecular map reveals gene@c origins of 21 autoimmune diseases.
3. A Feb 2015 series of Nature publica:ons- The NIH Roadmap Epigenomics

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At the same @me the scien@c community is mapping and exploring new territory,
several new private companies are also char@ng new orbits. A few noteworthy top
down company examples include:
Crowdmed, which is a global online crowdsourcing community tapping a vast team of
medical detec@ves to help solve medical mysteries. Started just 2 years ago, they
have had 500 cases with about 60% telling them the site brought them closer to a
diagnosis. Given that most pts had been sick for 8 years and seen 8 doctors this is a
good result. This compares favorably to the NIH Undiagnosed diseases program and
has the poten@al to be cheaper and faster.
Also, there are a variety of microbiome therapeu@cs companies, with dierent
approaches. This is exci@ng because, unlike our genes, we can change our
microbiomes, perhaps for the beKer perhaps with simple manipula@ons of diet. This
new view of microbial ecosystem therapeu@cs includes:
Vedanta which is taking advantage of new understanding of mucosal immunology in
gut, to create a new class of drugs that will use a mix of various Clostridium bacteria
to create an immunomodula@ng therapy.
Second Genome is using their proprietary approach for genera@ng small molecule,
pep@de biologic, probio@c and symbio@c product candidates in order to modulate
microbe- microbe and microbe-human interac@ons.
Seres Health hopes to develop the rst regulated, clinically approved bacteria-lled

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Coming back to the lonely voices of autoimmune disease, the key is to turn all this data into useable
informa@on.
How do we take the data and digital tools coming from the boKom-up and the top-down and translate
them into what pa@ents need?
President Obamas recently announced Precision Medicine Ini:a:ve, which includes plans to create a
na@onal research cohort of greater than 1 M volunteers to generate a knowledge base for precision
medicine, is an example of government-led top-down convergence.
Another public sector example is Picori, a pa@ent-centered outcomes research ini@a@ve that gives
pa@ents a voice in clinical trials.
In the private sector, this is a unique @me where 2 powerful infrastructure players are suppor@ng
research ini@a@ves in dierent, but complementary ways. Apples ResearchKit, is a plug-and-play API
infrastructure for a boKom up approach and Google Baseline, is a more top-down approach.
However, for autoimmune pa@ents, these are early days. For one thing, not enough data is being shared
among and between various stakeholders.
Yet, there are some noteworthy examples of sharing and collabora@on in cancer and rare diseases that
can serve as templates. These include:
MMRF is a stellar example of collabora@on and transparency connec@ng the research community, the
pa@ent community, along with pharma and government. Remarkable results in include raising 250 M
in 10 years and bringing 6 drugs to market which has improved survival rate from 2.5 to 8 years. I
recently read an interview where she said the secret sauce Never take no for an answer.
Gene:c Alliance fostering a culture of sharing and openness across disease advocacy silos. They have

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We can and must do beKer!
More and beKer Data sharing infrastructure is key across the con@nuum ranging
from R&D, clinical trials and care coordina@on.
Some early US pioneers crea@ng ground breaking sharing and collabora@on plaoorms
include:
In research- Benaroya Research Ins:tute, is a non-prot focused on nding cures and
preven@ng all autoimmune diseases. Their unique integrated approach is about
going from bench to bedside and then back to the bench.

In clinical trials- Open Medicine Ins:tute is combining the power of community and
technology by developing ways to share informa@on and speed clinical trials for
dicult diseases. Their tech plaoorm, facilitates informa@on sharing from all
sources, (pa@ent, caregiver, physician, hospital, lab, etc.) and op@mizes collabora@on.

In -Care coordina@on plaoorms - C3N Cincinna:s Childrenss Hospital collabora@ve
chronic care network technology plaoorm that facilitates and enhances
communica@on across mul@ple care team members.

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Despite these early pioneers, for the average autoimmune pa@ent, there are many
gaps-
Two recent AARDA surveys show gaps in public awareness and physician educa@on
Cri@cal for each of us here are the Gaps in research
Autoimmune disease research today is where cancer research 10 to 20 years ago.
This represents a unique opportunity to get in early on what appears to be a vast and
fascina@ng area of research that addresses a huge and growing need.
My vision is to give autoimmune research the same visibility as cancer and thus make
the Lonely Voices of Autoimmune Disease less lonely.
With an eye on lling the gaps for autoimmune pa@ents, you can read my upcoming
paper The Autoimmune Abyss- a Gap Analysis. So you can see where the gaps are
and what can be done.

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So how can we work together to harness data and digital tools to bring precision
medicine to the autoimmune community?
Importantly, we all need to look outside our individual silos and seek opportuni@es to
collaborate and share.
We need to work together to bring more funding and research to meet the large and
growing needs of the autoimmune community.
None of us can do this alone.
But any one of us can contribute.
I call upon all of you to think about where the work you already do can help advance
our understanding of autoimmune diseases, or even beKer, Id love to inspire some
of you to pursue autoimmunity worknow that we have the tools to further our
understanding.
We can and must do this!
I am here for the full conference and excited to hear your good ideas.
I am looking for innova@ve thinkers to help host a series of brainstorming mee@ngs or
innova@on salons to help get the autoimmunity dialog moving from problem
iden@ca@on to ac@on.
Please join me as we work together to use data and digital tools to make the lonely
voices of autoimmune disease less lonely.

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