Spring 2014 - The Ehlers-Danlos National Foundation

From the Executive Director Shane Robinson...................................................................................... 2
EDNF 2014 Learning Conference Information................................................................................ 4
Applying for Disability Benefits with Ehlers-Danlos Syndrome Ram Meyyappan.................................. 5
Five Myths About Chronic Illness Rachel Stevenson........................................................................... 7
But You Don’t Look Sick Catherine Maire......................................................................................... 10
Interloper in Our Bed Sue Vokral....................................................................................................... 11
“Educating others”............................................................................................................................ 12
Adult Stem Cell Research Shows Promise FDA Consumer Health Information................................. 13
EDNF Conference Kids & Teens Program....................................................................................... 15
Erasing a Genetic Mutation Anne Trafton......................................................................................... 16
Publishing Information.................................................................................................................. 18
Your Magazine About Living With EDS
Spring 2014
T’S Spring, and thanks to you EDNF is
A big part of our mission is EDS awareness
and education for physicians and other
healthcare professionals. To that end, we’re
holding a one-day physicians conference
on September 15th at the Greater Baltimore
Medical Center (GBMC), in Towson,
Maryland. GBMC also hosts the EDNF
Center for Clinical Care and Research, so the
conference is a great opportunity to launch
the Center’s education program which will
offer periodic in-person events, as well as
distance learning opportunities.
Over the last year EDNF has grown by leaps and
bounds: a situation that would not be possible
without your support. You have donated more,
volunteered more, interacted more online, and
because of that, EDNF can do more!
A few updates from HQ:
EDNF Center for Clinical Care and Research at
We continue to fundraise in earnest for
the opening of the Center this summer.
The ribbon-cutting ceremony is set for
the evening of August 16th at the Greater
Baltimore Medical Center in Towson,
Maryland. The opening of the Center is an
incredible milestone in the history of EDNF
and the fulfillment of its mission.
2014 Learning Conference
As you likely know, this year’s conference will
be in Houston, Texas, July 9-11. Some of you
may remember that EDNF was in Houston
in 2008. Well, we’re back, and this time
bigger and better! We’re looking forward to
engaging with many EDSers from Texas
that haven’t been able to attend the annual
conference over the last few years. We’re also
very excited to hear from Dr. Brendan Lee
who will be updating us on the EDS research
he is conducting at Baylor University in
Waco, Texas. Join us in Texas for the largest
gathering of EDSers in the world!
2014 Physicians Conference
A few things we’re working on today:
Lately, a lot of great things have happened at
EDNF, but none would be possible without
fundraising. Every day we are actively
engaged in pursuing corporate sponsorships
and donations, grant-writing, searching for
new leads, following-up with past donors,
and reaching out to potential first-time
donors. We are a public charity, and as such
we rely on donations to achieve our mission.
Because funding is such a big issue for public
charities, we spend a considerable amount
of time raising money for our programs
and projects. Thankfully, EDNF has a very
generous base. Over the last year you have
given more, so now we are able to do more.
In fact, 2013 was EDNF’s biggest year, and
we’re already on track to eclipse it in 2014.
We put every dollar to work, so know that
your donations are being used for important
initiatives like the Center, the new education
program we’re going to roll out, and our
expanding support network.
While we need research and expanded
awareness for improved clinical outcomes
tomorrow, many people need help today.
Each day we’re on the phones, in our email,
and on social media helping to link EDSers
to the resources that they need. When those
resources aren’t available we work to create
them whenever possible. Backed by our
world-class Professional Advisory Network
and our tireless volunteers we are committed
to supporting you.
to disburse a significant amount of funding
through grants towards coordinated,
focused, and meaningful research projects.
Strategic planning
It goes without saying that we spend a lot
of our time planning for the future. We
can’t beat EDS without planning. Our allvolunteer Board of Directors meets quarterly
to ensure that EDNF is on track, with periodic
committee meetings during the interim.
Our Board Members will be at the Learning
Conference in Houston if you would like to
meet them.
Global reach
If you’ve ever been to an EDNF Learning
Conference you already know that our
membership is global, but we can do more
than that. By partnering with other EDSrelated organizations around the world we
can create a synergy that will benefit all of
us. To that end, Ehlers-Danlos Support UK
will be at our upcoming conference to meet
with our Board of Directors, and that’s only
the beginning!
As you can see, we’ve been busy, but if it weren’t
for you and the support that you’ve given
EDNF, then none of this would be possible.
Thank you, and please don’t hesitate to contact
us. We love hearing from you.
Shane Robinson
Executive Director, EDNF
Some things we’d like to work on tomorrow:
A network of centers
Right now we’re very focused on the EDNF
Center for Clinical Care and Research at
GBMC. It’s imperative that we get it right,
and we will, but what comes next? Quite
possibly a network of centers with the end
goal of top quality EDS care at every major
medical institution. We’re working towards
a day when you can expect quality care at
whatever hospital you enter.
A large endowment for research
Research is costly, so we haven’t been
able to fund a lot of it, and what we have
funded has been sporadic. We envision a
large endowment which would enable us
“It isn’t good to hold on too
hard to the past. You can’t
spend your whole life looking
back. Not even when you
can’t see what lies ahead.
All you can do is keep on
keeping on, and try to believe
that tomorrow will be what
it should be — even if it
isn’t what you expected.”
— Jim Butcher
2014 Learning Conference
Hilton Americas Hotel § Houston, Texas § July 10–12
Early registration open until May 6!
Sam Bailey, MS, CGC
John Belmont, MD, PhD
Lara Bloom
Heather Butler-Pierce
Heidi A. Collins, MD
Shweta Dhar, MD, MS,
​Dr. Epps
Clair Francomano, MD
Erin Grigsby
Fraser Cummins Henderson
Sr., MD
Imad Jarjour, MD, FAAN,
​ r. Diane Lebron
​Dr. Brendan Lee
Dr. Ann Maitland
John Mitakides, DDS, DAACP,
Shaine Morris, MD, MPH
Sandesh Nagamani, MD,
Derek Neilson, MD
Jonathan Parr
Alan Pocinki, MD
Professor Rodney Grahame
​Brad Tinkle, MD, PhD
Shani Weber
Please note that the speakers
listed are subject to change.
Thursday will consist of
physician consultations
beginning in the early
afternoon; a special session
by Dr. Brendan Lee; and a
welcome reception for all
conference attendees that
evening. Friday and Saturday
will consist of educational
sessions all day, concluding
with Saturday night's banquet.
symptoms and long term
complications of this Ehlers-Danlos
syndrome can prevent you from working and
can potentially qualify you for Social Security
Disability (SSD) benefits, though you will need
to prove your condition prevents you from
working in a job in which you can earn a
gainful living in order to receive benefits.
Medically Qualifying for SSD
To get SSD, you must suffer from a severe
medical condition that can either:
be proven to have been present for at least
12 months
Section 1.02 – major dysfunction of a joint
Sections 2.02, 2.03, 2.04 – vision loss or
Section 4.02 – aortic aneurysm
Section 5.02 – bleeding in the gastrointestinal
system that requires blood transfusions
Section 8.04 – chronic skin infections
It is important to understand that you do not
have to meet any of these listings exactly in
order to be eligible for benefits. Your medical
records and disability application must simply
which is expected to prevent you from working for at least that long.
Additionally, the Social Security Administration
(SSA) must see that you are unable to maintain
employment in any position for which you
would otherwise be qualified. This means
you need to show through thorough medical
records that your everyday abilities are severely
limited by Ehlers-Danlos.
The SSA will review your medical records under
listings in the Blue Book, which is a manual
of impairments and the medical evidence
necessary for proving disability with each
condition, though there is no dedicated listing
for Ehlers-Danlos.
Because the syndrome can affect multiple body
systems, the SSA may need to review any or all
of the following listings when evaluating your
medical records and disability application:
your Ehlers-Danlos syndrome is equal in
severity to a listed condition
your “residual functional capacity” (RFC) is
so limited that you are unable to maintain
gainful employment even though you do
not exactly meet or closely match a listed
While in some circumstances it is possible to
continue working and get disability benefits, in
order to qualify medically through and RFC
analysis, the SSA will need to determine that
you are so severely affected by Ehlers-Danlos on
a daily basis that it prevents you from working
in any job at all, even a light work, sedentary,
or administrative position.
The SSA’s Disability Programs
If you are found medically eligible for benefits,
you may be able to get SSD through both of
the SSA’s disability programs; however, there
are technical and financial eligibility rules you
must meet for each program.
For Social Security Disability Insurance
(SSDI), which is designed to pay benefits to
disabled workers, you must have sufficient
work credits from your previous employment
in order to receive benefits. You can learn
more about SSDI here: http://www.disabilitybenefits-help.org/ssdi/qualify-for-ssdi
For Supplemental Security Income (SSI),
which is a need-based program designed
to pay benefits to disabled individuals who
have very limited income and other financial
resources, you must not exceed the threshold
for monthly finances set by the SSA, which
is $740 per month for 2014. The calculation
of “available” income and resources is a bit
complex though. You can learn more about
SSI here: http://www.disability-benefits-help.
Submitting an Application
Applications for SSDI can be completed online
via the SSA’s website, but SSI applications must
be made in person at your local SSA office.
You can schedule an appointment to complete
both applications in person by calling 1-800772-1213, or you may decide to file for SSDI
online and follow-up locally to submit your
medical and other supporting documentation
and to apply for SSI.
Either way, you must ensure you thoroughly
complete all the required forms and that you
support your claim with extensive medical
records and any other documentation that prove
your Ehlers-Danlos syndrome is indeed severe
enough to prevent you from earning a living.
Ram Meyyappan
eHlErs-dAnlOS sYnDroMeS aWaRenEsS mOntH
mAY 2014
events and information throughout our communities
How unwitting assumptions on
your part may alienate good
people in bad situations.
Addressed to those without chronic illness,
from an EDSer’s perspective.
Sick people must be ignorant about, or resisting,
good medical advice that you can provide, so you
should tell them about it right away.
It’s completely possible you know a health tip
that we’ll be interested in adding to our (likely
already vast and varied) health care program,
but advice shouldn’t be your first response
when you hear we have a problem. You think
you’d love to hear this advice yourself, and tout
suite! We’d rather you hear and understand us
first, because we will likely tell you how you
can help us best. The assumption that you
know what will help can feel to us that you
are invalidating our autonomy to make healthrelated choices. We’ve probably waded through
a lot of good and bad treatments, maybe already
including your suggestion, and we need to
keep a watchful eye that our time and rapidlyconsumed health funds aren’t thrown away on
high-risk or low-reward ideas.
Some of your advice might come from more
immediate and short-term concern for us. You
might want to encourage us to rest right now,
or try to motivate us to exercise this afternoon.
It can feel to us that you’re doubting our ability
to set our own limits and goals, and to know
how our immediate decisions fit into a broader
context (for instance, deadlines for which
we need to push through, or that a work-out
now could set us back further with an injury).
Trust that our root problem is physical and not
something curable by “mind over matter.” For
most of us, our problem has never been in our
ability to power through the pain, motivate
ourselves, or do what’s best for our bodies; these
are actually some of our greatest strengths and
have been honed with years of practice.
Sick people must like using mobility equipment,
needing help, and hearing “sympathy.”
We typically hate these things. You may have
had a sports injury once, and perhaps you
enjoyed using a wheelchair, having your
friends rally around you on your way to the
dining hall. It was novel for you, but it was
not something you required because of a
serious, and confidence-deflating, failing of
your body. People with chronic illness have
learned to value the activities we can do by
ourselves, and to appreciate the times when
we can be better able-bodied. We relish every
possible opportunity to do what we can, but
we sometimes push past medically advisable
limits when we’re frustrated or feel we’re being
judged for using support.
We may feel even more judged if you find us
“suspicious” for using a variable amount of
support on different days. Chronic illnesses
don’t respond to treatment linearly and
curatively like a sports injury usually would
to physical therapy, so the amount of support
needed will vary by day for us. It may look to
you like we’re just being wimpier on certain
days or seem to you as though we’re faking it
on those days, but we’re actually proportionally
accommodating a greater physical need.
Regarding sympathy, you might have liked
recovering from an acute injury. However, to
a self-conscious chronically ill person hearing
it day in and day out, it often sounds like
sarcasm meant to criticize our management of
a condition, or a sign that you see us differently
than we see ourselves and would like to be seen.
Sick people are diagnosing themselves, stockpiling
diagnoses, or “doctor shopping.”
Usually corollary to those myths are the
assumptions that we don’t really have these
conditions and that we somehow infiltrated the
chronic illness community because we really like
to see doctors, learn about disease, and identify
with a condition. You think we’re just trying
to find some way to be different than you? We
were probably just like you before we heard our
diagnosis. We liked to think we would become
different in fun ways — we’d become president
or be able to open beer bottles with our teeth.
Who knows, we still might be able to cultivate
these differences. But now, we also have to
come to accept more challenging differences;
we have to start learning boring details about
how our bodies are functioning differently
than yours, and then spend most of our time
at different medical specialists to correct for
those differences, which is not fun for anyone.
If you think we know a “suspicious” amount
of information about a rare medical condition,
as if we’ve been memorizing the symptoms
to pretend we have them, it’s — you’ll never
guess — because a doctor proved extensively to
us that we have that medical condition. So, of
course, we now know a lot about it!
We may have more than one diagnosis, but
that’s perfectly explainable as well. Our root
biological problem may have manifested in
multiple systems, or our time with all these
doctors may have secondarily allowed them to
detect additional problems common even in
healthy populations. Your doctors wouldn’t be
as likely to pick up on those other problems in
you because you only need to visit them rarely
and then only briefly.
We’re also more likely to visit more doctors or
to switch doctors more often. We want to get
second opinions until they form a consensus.
We want to treat our multi-system effects with
appropriate specialists. We want to find the
doctors that will make up the best long-term
care team we can assemble.
Sick people are needy or bossy, and have no
consideration for what other people do for them.
We might appreciate your help more than
healthy people would. For example, carrying
something or walking to get something can
seem like a really big deal to those of us who
can’t accomplish that thing ourselves. We
may feel even ashamed to ask for your help,
because we know we’d be forcing you to look
inconsiderate if you said no. Go ahead and say
“no” when you need to — your time is important
to us! But know that saying “yes” is doing us
actual physical benefit, and is not just placating
a lazy whiner. Denying us help is not a valid
medical treatment to make us recover faster by
not letting us “wallow” (see Myth Two — we
practically never want to wallow). If we use
short-tempered or presumptuous language,
talk it out with us. A seemingly ungrateful tone
may actually be frustration about not being
able to accomplish a task without bothering
anyone, frustration that we need to smile and
rely on others at a time when we might rather
be alone, or a necessary forcefulness about the
seriousness of the request (e.g., a hurried, “No,
don’t sit with me!” to a considerate helper is
this EDSer’s abbreviation for “depressing this
shared couch cushion will make my hip pop
out of its socket!”).
Sick people complain out of proportion to their
Well yes, it is sometimes out of proportion;
in most cases, it’s much lower than you’d
complain about the same problem. We get sick
of hearing ourselves complain so much, too,
but it’s sometimes the tip of the iceberg of what
we’re dealing with. There exists what I call a
“complaint quota” in any social situation. We
try to not exceed that quota ourselves, and
we’ll likely let you fill a larger proportion of it
because we know how much it sucks to have a
complaint belittled.
Complaining has a purpose. Everyone,
everywhere, wants to hear the solidarity
evoked by a good complaint, to help us
shoulder life’s loads. To us in the chronic
illness community, it has additional purposes;
it is us, quite necessarily, self-advocating for
our medical needs and raising awareness. But a
good conversation involves give and take, and
it would be one-sided and boring to us if we
filled up the quota by ourselves.
So complain with us! Sometimes our human
pettiness can come out, and we’ll single out one
of your complaints that we think carries more
weight than ours would be allowed to, and we
might say something like, “Oh come on, it’s not
that bad.” Don’t let us get away with that. All
people deserve to complain about little things
once in a while, and we ourselves can “sweat
the small stuff” sometimes, too. Also note that,
occasionally, we actually would rather not talk
about our condition and you end up kind of
forcing it out of us.
As long as there is a culture where your initial
response to seeing crutches or a wheelchair is,
“Oh, no, what did you do to yourself?” — which
we might see as prying, dismissive, or victimblaming, by the way — we’re going to have to
tell you why that question isn’t accurate. This
isn’t a klutzy thing we did to ourselves, nor the
funny or heroic sports story you were hoping to
hear. The answer might not be short, or the short
answer might make you think we’re something
we’re not, so we’d often rather tell you the
long, whiny-sounding, accurate version. And
we can promise that this real answer will make
you look at life a little differently.
Rachel Stevenson
Please be gentle with each other; who knows
how each of us got where we are? One can
make absolutely the best decision at every step
along the path, and still find oneself lost.
How did I end up here
in a body of softly curved joints
and misplaced bones
that cannot sleep at night?
She checks off symptoms one by one
more accurate than any form
at any of the hundred doctors
with any of their hundred tests.
The knock-kneed child never does a
pull up,
never runs a mile, never climbs a tree.
but she can bend her body round like
and pour salt on her food like sand on
a desert.
It is a slow dissolving:
loosening body from bones.
The teenager with the stomach
bruises, migraines, tiredly struggles
to fit in, keep up, gives up,
ends up
in a room with books
and darkness.
The woman can’t open jars.
“A delicate flower,” her husband calls
He compensates, helps out when pain
puts her in her bed.
One physical therapist has a thought.
A disease the woman’s never heard of.
Her life’s history
in a Wikipedia entry.
“Rate your pain from one to ten,” they
She laughs.
They have no idea.
Catherine Maire
When did it really happen?
Was a line drawn in the sand?
Did he blow in on a chilling breeze,
Or creep across the land?
Don’t let him drive a wedge between us,
Afraid to just reach out.
Don’t let him trap me by myself,
Not hear me crying out.
And how was it alright he stayed?
He claimed a place to live…
He’d take and take and take some more,
And never would he give.
I’m wounded in ED’s last assault,
Fight or flight keeps me alive.
Injured, scarred, a damaged heart,
For us I will survive.
He tried to make me leave you,
And lure me far away —
With pain and illness, loss and sadness,
But - I fought hard to stay.
I choose to live my life with you,
The man you’ll always be.
I push back hard to keep away,
My predicted destiny.
You feel him in our lives, I know,
He’s here, ED’s here to stay.
He’s the interloper in our marriage,
And he wants to get his way.
Sue Vokral
So, as we lie in bed each night,
Lonely sheets that fill the gap.
Are we strong enough to just reach out,
Or fall into ED’s trap.
He wants me for himself you know,
Culled from the healthy herd.
A lone female looking for her mate,
Her cries that go unheard.
Educating others
Helping other zebras
Letting others help
Evaluating priorities
Remaining ‘flexible’
Strengthening and stabilizing
Developing a new plan for life
Accepting life as it is
Never giving up
Looking for patterns
Organizing life day by day
Striving to be a fighter
Sharing what works
Yearning for more information
Napping as necessary
Discovering tools for coping
Rationing out spoons
Optimistic about tomorrow
Modifying situations
Encouraging other zebras
CIENTISTS sporting white coats and
safety gloves are working in a bright Food
and Drug Administration (FDA) lab on an
incredible project.
They are part of FDA’s MSC Consortium, a
large team of FDA scientists studying adult
mesenchymal stem cells (MSCs) — cells that
could eventually be used to repair, replace,
restore or regenerate cells in the body, including
those needed for heart and bone repair.
The scientists’ investigational work is
unprecedented: Seven labs at FDA’s Center for
Biologics Evaluation and Research formed the
consortium to fill in gaps in knowledge about
how stem cells function.
“This research aims to facilitate development
of this important class of innovative medical
products,” explains Carolyn A. Wilson, Ph.D.,
associate director for research at the center. “It’s
the first time we’ve done anything like this,
and it’s proven to be a very useful approach.
It’s worked so well because this is a huge,
complicated project that requires expertise in
many different technologies and methods.”
The research could ultimately be key to the
advancement of personalized medicine, the
practice in which medical treatment is tailored
to the needs of an individual patient. “It’s not
science fiction,” says Steven R. Bauer, Ph.D.,
chief of the Cellular and Tissue Therapy Branch
in FDA’s Office of Cellular Tissue and Gene
Therapies. “For me, regenerative medicine is
the most exciting part of what we regulate in
our office.”
So What Are Stem Cells?
There are two basic kinds of stem cells that
are currently useful in the field of regenerative
medicine: multipotent and pluripotent stem
cells. Multipotent stem cells are generally
taken from adults and can divide and develop
into many different cell types. Pluripotent
stem cells can develop into any type of cell in
the body. Both types could divide to replenish
cells damaged by injury, illness or normal wear.
When stem cells divide, the new cells can either
remain stem cells or develop into a new type of
cell with a more specific function.
Two types of pluripotent stem cells exist:
human embryonic stem cells and induced
pluripotent stem cells, which are created by
reprogramming adult cells that had already
changed into a mature type of cell.
FDA’s MSC Consortium is not studying stem
cells taken from embryos. “We’re looking at
a particular kind of multipotent adult stem
cell — the MSC — which is being used in a lot
of regenerative medicine clinical trials,” adds
The group is currently studying eight unique
cell lines, each acquired from commercial
sources and sourced to one of eight distinct,
adult donors. (Males and females age 22 to 47
donated stem cells from bone marrow.)
The cells under study are multipotent: “They
can differentiate (mature into) at least three cell
types: bone, fat and cartilage, primarily,” Bauer
explains. “They can also differentiate into nerve
cells, liver cells and a kind of cell called ‘stroma’
that is in the bone marrow and supports blood
forming cells. Then, for investigational clinical
uses, they’ve been used for repairing hearts,
repairing bone and repairing cartilage.”
Why Is FDA Studying These Cells?
In addition to differentiating into a variety
of replacement cell types, MSCs can limit
a patient’s immune response. So they can
potentially be taken from one human donor
and placed into a different recipient with less
possibility of rejection.
But growing stem cells and making sure they
are safe and effective is challenging, which is
one reason why stem-cell based clinical trials
have not yet resulted in a marketed product.
liquid solution and grown in sterile containers
called tissue culture flasks. Cells then multiply
and go through three, five or seven generations
of growth.
FDA scientists are using a variety of cuttingedge methods to characterize cells and then
determine if any of these characteristics can
predict the behavior of the cells in biological
assays or in animal models. The next step will
be to determine if any characteristics they
measure will predict the safety or effectiveness
of stem-cell based products in patients.
Specifically, scientists will continue studying
whether factors such as different methods of
growing the cells, donor age or gender affects
“The major challenge is that cells are much more the cells’ quality and performance. This research
complex than traditional products that FDA
will ultimately provide new tools to the
regulates. And they have the ability to respond community of academic and private industry
to their environment,”
Bauer explains. “Taking
interested in evaluating
them out of the body
and developing stem
“…including the ability
cells into new clinical
to repair or even replace
them — that is, growing
organs and tissues more
them — or
“The consortium has
them can change their
shown that widely
safely and effectively
biology. And it can
accepted ways to identify
change the way they
and characterize MSCs
than traditional means.”
behave if they are put
do not reveal some
back into the patient.”
differences between batches of these cells,” Bauer
For instance, if cells are manufactured in large says. So the consortium seeks to demonstrate
quantities outside their natural environment,
ways to better characterize MSCs that will be
they may become ineffective or develop used in clinical trials. That’s important because,
harmful characteristics. For example, they can
if investigators can improve the tools used to
produce tumors, severe immune reactions or
characterize MSCs used for clinical trials, the
growth of unwanted tissue. So FDA is trying to
data generated from their studies could also
develop methods that would predict with more
improve because their MSC products will be
certainty how manufactured or isolated adult more predictable, he adds.
stem cells will behave in patients.
And the improved predictability of their
What’s Being Done?
products will, in turn, allow FDA scientists to
more easily evaluate the safety and effectiveness
In the labs, cells are suspended in a nutrient of new stem cell technologies — a key part of
the regulatory science that is the foundation of
FDA decisions.
Agency scientists already have published six
papers in scientific journals such as Tissue
Engineering and Cytotherapy. “We’re hoping this
project will inspire people to do more research
in this area,” Bauer says.
Stem cells, like other medical products intended
to treat, cure or prevent disease, require FDA
approval before they can be marketed. “It
is important for FDA to maintain a sound
regulatory science research program to promote
the development of safe and effective products
in emerging areas that hold great promise,”
Bauer says.
“My colleagues and I hope our scientific findings
will be helpful in the field of regenerative
medicine, including the ability to repair or
even replace organs and tissues more safely and
effectively than traditional means,” he adds.
“Although there are many scientific hurdles to
overcome before the use of stem cells reaches
its full potential, I think this medicine will
eventually have the capacity to do that.”
FDA Consumer Health
U.S. Food and Drug Administration
Find this and other Consumer Updates at www.
Sign up for free e-mail subscriptions at www.fda.
HIS year's Kids & Teens program will serve
children and teens ages 5–15 years old.
The EDNF Learning Conference will provide
developmental curriculum, activities, games,
and educational sessions with doctors and
other related speakers. While we will focus on
encouraging the children, teens and students
to gain a deeper understanding of EDS, we will
also provide opportunities for them to have
fun, and gain some deeper relationships with
children and teens from all over the country! A
strong focus this year will be about inspiring a
better future with greater possibilities.
The 2014 Learning Conference will offer a
new track of sessions with focus on teens and
young adults. These sessions will provide a
comfortable environment for young adults
to meet with doctors and other inspirational
individuals while they get to know one another
in a more personal setting. We will also have a
teen/young adult lounge where they can relax,
play some games and work on other activities
at their leisure.
SING a new gene-editing system based on
bacterial proteins, MIT researchers have
cured mice of a rare liver disorder caused by a
single genetic mutation.
The findings, described in the March 30 issue
of Nature Biotechnology, offer the first evidence
that this gene-editing technique, known as
CRISPR, can reverse disease symptoms in
living animals. CRISPR, which offers an easy
way to snip out mutated DNA and replace it
with the correct sequence, holds potential for
treating many genetic disorders, according to
the research team.
“What’s exciting about this approach is that
we can actually correct a defective gene in a
living adult animal,” says Daniel Anderson,
the Samuel A. Goldblith Associate Professor of
Chemical Engineering at MIT, a member of the
Koch Institute for Integrative Cancer Research,
and the senior author of the paper.
The recently developed CRISPR system relies on
cellular machinery that bacteria use to defend
themselves from viral infection. Researchers
have copied this cellular system to create geneediting complexes that include a DNA-cutting
enzyme called Cas9 bound to a short RNA
guide strand that is programmed to bind to a
specific genome sequence, telling Cas9 where
to make its cut.
At the same time, the researchers also deliver
a DNA template strand. When the cell repairs
the damage produced by Cas9, it copies from
the template, introducing new genetic material
into the genome. Scientists envision that this
kind of genome editing could one day help
treat diseases such as hemophilia, Huntington’s
disease, and others that are caused by single
Scientists have developed other gene-editing
systems based on DNA-slicing enzymes, also
known as nucleases, but those complexes can
be expensive and difficult to assemble.
“The CRISPR system is very easy to configure
and customize,” says Anderson, who is also
a member of MIT’s Institute for Medical
Engineering and Science. He adds that other
systems “can potentially be used in a similar
way to the CRISPR system, but with those it is
much harder to make a nuclease that’s specific
to your target of interest.”
Disease correction
For this study, the researchers designed three
guide RNA strands that target different DNA
sequences near the mutation that causes type
I tyrosinemia, in a gene that codes for an
enzyme called FAH. Patients with this disease,
which affects about 1 in 100,000 people,
cannot break down the amino acid tyrosine,
which accumulates and can lead to liver failure.
Current treatments include a low-protein
diet and a drug called NTCB, which disrupts
tyrosine production.
In experiments with adult mice carrying
the mutated form of the FAH enzyme, the
researchers delivered RNA guide strands along
with the gene for Cas9 and a 199-nucleotide
DNA template that includes the correct
sequence of the mutated FAH gene.
Using this approach, the correct gene was
inserted in about one of every 250 hepatocytes,
the cells that make up most of the liver. Over
the next 30 days, those healthy cells began
to proliferate and replace diseased liver cells,
eventually accounting for about one-third of
all hepatocytes. This was enough to cure the
disease, allowing the mice to survive after being
taken off the NCTB drug.
“We can do a one-time treatment and totally
reverse the condition,” says Hao Yin, a postdoc
at the Koch Institute and one of the lead
authors of the Nature Biotechnology paper.
“This work shows that CRISPR can be used
successfully in adults, and also identifies
several of the challenges that will need to be
addressed moving forward to the development
of human therapies,” says Charles Gersbach, an
assistant professor of biomedical engineering
at Duke University who was not part of the
research team. “In particular, the authors note
that the efficiency of gene editing will need to
improve significantly to be relevant for most
diseases and other delivery methods need to be
explored to extend the approach to humans.
Nevertheless, this work is an exciting first step
to using modern gene-editing tools to correct
the devastating genetic diseases for which there
are currently no options for affected patients.”
To deliver the CRISPR components, the
researchers employed a technique known as
high-pressure injection, which uses a highpowered syringe to rapidly discharge the
material into a vein. This approach delivers
material successfully to liver cells, but Anderson
envisions that better delivery approaches are
possible. His lab is now working on methods
that may be safer and more efficient, including
targeted nanoparticles.
Wen Xue, a senior postdoc at the Koch Institute,
is also a lead author of the paper. Other authors
are Institute Professor Phillip Sharp; Tyler
Jacks, director of the Koch Institute; postdoc
Sidi Chen; senior postdoc Roman Bogorad; Eric
Benedetti and Markus Grompe of the Oregon
Stem Cell Center; and Victor Koteliansky of the
Skolkovo Institute of Science and Technology.
Anne Trafton
MIT News Office
The research was funded by the National Cancer
Institute, the National Institutes of Health, and
the Marie D. and Pierre Casimir-Lambert Fund.
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