L OOS E CONNECTIONS

Your Magazine About Living With EDS Autumn 2013

EDNF 2013 Learning Conference Photographs .................................................................................... 2
The Distinction Between Pain & Suffering Noah Baerman .................................................................. 6
Ambien Heightens Recollection of and Response to Bad Memories Amy Bianco ................................. 10
Michiana EDNF Branch 2013 Awareness Month Activities ................................................................ 11
Iodine and Salt Amy Bianco ............................................................................................................ 12
Changing Gut Bacteria Through Diet Affects Brain Function ............................................................. 13
David W. Nadzak ............................................................................................................................ 15
Kansas City Bike Run and Fundraiser for EDNF ................................................................................ 16
Genetics 101: The Hereditary Material of Life ................................................................................... 18
Understanding the Human Genome Project A Fact Sheet ................................................................ 20
Art: Cherish Fletcher ........................................................................................................................ 21
Publishers Index ............................................................................................................................ 22
AUTUMN 2013
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2013 Learning Conference
Rhode Island Convention Center/ Te Omni Providence
Providence, Rhode Island August 1-3
Handots
Please visit the presentation handouts page to catch up on what was offered during
the conference. Material continues to be added as speakers send it in, so check
occasionally if a session in which you were interested is missing.
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in Baltimore had been a real eye-opener for
me then; he gave a talk for all assembled
as well as offering a breakout session and
miscellaneous commentary at various Q&A
events. I did not attend last years conference
in Cincinnati, but Dr. Levy referenced some
controversy over comments he made there
surrounding the need to address mental health
as part of a truly effective plan for managing
EDS (and, one might reasonably extrapolate,
any physical challenge).
I was initially taken aback by the notion that
anybody would be offended by the mention
of mental health or the suggestion to seek
counseling. Looking at it objectively, it makes
sense that there would be this resistance from
a couple of levels. One, more globally, is that
the human race still has some work to do in
order to thoroughly de-stigmatize counseling
and get rid of the notion that it is for the weak
and/or crazy. I feel like most people could use
one sort of counseling or another with a skilled
practitioner, but not everybody feels this way
(this is, of course, coming from somebody
who is surrounded by people working through
various sorts of trauma; my cats even have
PTSD).
Folks with EDS, meanwhile, are particularly
sensitive to the subject as so many of us have
been accused of malingering, hypochondria,
exaggeration, opportunistic fabrication, and
other forms of its all in your head. Many
people I know in the EDS community have
been as scarred by accusations and skepticism
and dismissal as by any of their physical
symptoms, and there was even a brilliant talk
at the conference by Dr. Alan Pocinki on the
various ways in which people can be diagnosed
with psychiatric disorders due entirely to the
THE DISTINCTION BETWEEN PAIN & SUFFERING
(OR IT AINT ALL IN YOUR HEAD, BUT SOME OF IT IS)
M
Y head is still reeling from this past
weekends Ehlers-Danlos Learning
Conference. Thursday night I had the privilege
of performing and speaking and then I spent
Friday and Saturday surrounded by knowledge,
whether that of some of the leading doctors
and researchers in the eld or that of the
individuals and families struggling, as I do,
with Ehlers-Danlos syndrome (EDS) every day.
Something that I found particularly
encouraging was that not only is the research
into the physiology of EDS moving forward, but
there is a greater embracing of the seemingly
peripheral elements that play a large role in
governing our overall wellness. For example,
at my rst conference in 2002 I was struck by
the virtual absence of healthy food both in
the meals and snacks being served and in the
conversations about living with EDS. To me
it seemed like a no-brainer to address food in
a meaningful way, yet I only met one other
person at that conference who spoke about
nutrition and I barely spoke to him, because
the main social mixers were the meals, during
which he ed the site to get healthy food. The
word holistic is used so much nowadays as
to render it almost inert, but it really applies
here each aspect of ones overall wellness and
life situation (nutrition, tness, medications,
emotional/mental health, nancial stability) is
integrated with the rest and plays a role in the
overall outcome. This has gone from unspoken
to lip service to being increasingly integrated
into the fabric of the discussions and of the
way the conferences themselves are run.
One of the speakers present this year was Dr.
Howard Levy (no, not the piano/harmonica
guy from Bela Fleck and the Flecktones, at least
so he claims), whose talk at the 2010 conference
AUTUMN 2013
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inadequate treatment of physical symptoms
stemming from EDS. With or without EDS,
most of us can relate to those moments when
we are upset for a genuine reason and thus react
with hostility when someone insinuates that
we need to manage our anger or frustration,
something that even if totally valid can feel
like a dismissal of the legitimacy of the root
cause for our being upset in the rst place.
Ultimately, though, Dr. Levys point is not
only valid, but essential indeed, it would be
irresponsible of him to hold that observation
back simply for fear of rubbing folks the wrong
way. I found myself thinking back to the rst
psychology course, and specically to learning
the actual denition of psychosomatic. I had
always thought it meant its in your head,
but in fact it means that it originates from
your head, something that often results in
legitimate, measurable
physiological outcomes.
I would be pretty
shocked if anyone
reading this had gone
his or her whole
life immune to this
phenomenon. When
youre stressed out for
whatever reason, it
affects your joint pain,
your GI functioning,
your ability to stay hydrated, your heart
rate and blood ow and so on. If you have
never stepped back during a freak-out and
objectively observed the changes in your body,
I suggest doing so (and if youve never freaked
out, then I suggest you come and give me some
meditation lessons).
When I was in my mid-to-late 20s, I really felt
the full weight of what EDS meant for me
(limitations to my career, to my recreational
activities, to my capacity to nd respite from
chronic pain) and that led me to seek counseling
(therapist three of four, for those keeping score
at home). The most resonant thing I took away
from that session was the distinction between
pain and suffering, two words and concepts that
are often (but erroneously) treated as synonyms.
From this perspective pain is a thoroughly
objective phenomenon receptors are triggered
in your body and sensations result. Suffering,
on the other hand, is a completely subjective
phenomenon we emotionally process our
situation (whether our global life situation or
the moment at hand) as being negative and
respond accordingly. The negative side of
this is something for which most of us neednt
look far to nd examples. Have you ever seen
people whose suffering seemed to outweigh
the gravity of their situations? Have you ever
thought, Geez, why are you so upset over
that? or, You think you have problems? We
all understand that subjectivity.
What I am fortunate to
have gured out during
that pivotal moment
in my 20s, though, is
that this subjectivity
can be used as a force
for good. That is, it is
equally possible (and
for all we know maybe
equally common and
just less dramatically
visible) to have a level of suffering that is
less than what one would expect for a given
persons level of adversity, and that includes
physical pain. Managing pain is an important
and medically necessary step for someone with
chronic issues, but managing suffering is at
least as important insofar as we are ultimately
measuring quality of life.
I spent much of the two days after hearing Dr.
Levys talk contemplating this phenomenon
and how it pertains to the wellness of not
just EDS sufferers, but most people. As if the
universe were demanding I write this post, I
If you have never stepped
back during a freak-out
and objectively observed
the changes in your body,
I suggest doing so.
AUTUMN 2013
PAGE 8
had two experiences over the weekend that
underscored this as not just an important
abstract concept, but as central to my own life.
First, while in Providence for the conference, we
stayed with our daughter and son-in-law and
during our conference downtime had a truly
delightful time with them. Periodically I would
step back and check in with my body yep,
plenty of pain, no doubt about that. But I was
too busy being stimulated and happy for that
pain to turn into suffering.
Meanwhile, we came home late Saturday,
and Sunday I exercised for the rst time in
days and promptly threw out my lower back
(L4, for those still keeping score at home).
What I observed in myself for the remainder
of the day was the welling-up of all sorts of
negative emotions beyond the objective reality
of the days back pain and impairment. Why
did I exercise without having been properly
vigilant with my lumbar stabilization exercises
for the previous couple of weeks? What will
happen to my back and to the work that maybe
I wont be able to do as a result? How am I still
going to go away with my wife and kids for
the already-brief vacation wed planned? What
will this mean for Kate, who will now have to
compensate for my incapacitation? What kind
of a fraud am I for speaking at the conference
as if Im a success story and then this happens?
If your heart rate isnt going up a little just from
reading this, then you are either very grounded
or have a heart of stone.
The thing is, all of these thoughts are subjective.
Im enlightened enough at this point that I
dont believe these thoughts when they come
up, but not so much that I circumvent them
entirely. If I had let them run rampant, I would
have spent the evening (and beyond) in a pit
of suffering. As a result, my whole body would
have been tensed up, my heart rate would have
elevated, and in general my body would have
had a lot more to endure. As it was I breathed
through these thoughts, vented a few of them,
and just let myself accept the reality of the
moment and rest. I got a great night of sleep.
Did I feel better in the morning? Thats fairly
irrelevant, but what I can say is that I felt a
hell of a lot better than I would have if I had
spent the night bemoaning my lot in life or
wallowing in shame over my fragility. Been
there, done that. Its no fun and accomplishes
nothing good.
Like any important life lesson, this isnt easy
or instantaneous to implement. But part of
having any kind of physical adversity is in your
head and from your head, it moves right
back into your body to fester and wreak havoc.
Certainly those with chronic issues like EDS
have enough havoc! Thanks for the reminder,
Dr. Levy both from me and on behalf of
anyone reading this who may have pain but
can begin to take command of suffering.
Noah Baerman
Jazz musician, composer, author & educator
www.noahjazz.com
Pain is inevitable. Sfering is optioal.
Haruki Murakami
Te pain of t mind is worse tan t pain of t body.
Publilius Syrus
AUTUMN 2013
PAGE 9
THROUGHSUPERIOR PHYSICIAN
TRAINING & SCIENTIFIC ADVANCEMENT
E
HLERS-DANLOS National Foundation
(EDNF) is fullling its mission to
provide resources for medical practitioners
as well as patients suffering from Ehlers-
Danlos syndrome (EDS) by opening the rst
and only clinic dedicated to EDS patient
care,professional education, and research.
In partnership with the Greater Baltimore
Medical Center (GBMC), the EDNF Center
for Clinical Care & Research is scheduled to
open in August, 2014 and will be housed
at GBMCs Harvey Institute for Human
Genetics in Towson, Maryland. This premier
EDS research and treatment facility will
IMPROVING PATIENT TREATMENT
FOR EHLERS-DANLOS SYNDROME
provide comprehensive clinical care for
patients,professional education for physicians,
and cutting-edge EDS research. It will be a
placewhere new treatment options for patients
can be explored and where physicians canlearn
about this debilitating disease.
Funds will be used to establish a permanent
endowment in support of operating
expenses of this multidisciplinary clinic,
including: personnel, materials, equipment,
exam room construction, research, and
professionaleducation.
We need your help as we seek to improve the
experience of EDS inour lifetime.
All contributions to this life-saving work are
sincerely appreciated.Make checks payable to
EDNF or give online at www.ednf.org.
Dr. Clair Francomano (Director, EDNF Center for Clinical Care and Research), Shane Robinson (Executive
Director, EDNF), Dr. John B. Chessare (President & Chief Executive Ofcer, GBMC HealthCare), and Elliot H.
Clark (Chair Emeritus, EDNF Board of Directors)
AUTUMN 2013
PAGE 10
S
LEEP researchers from University of
California campuses in Riverside and San
Diego have identied the sleep mechanism
that enables the brain to consolidate emotional
memory, and found that a popular prescription
sleep aid heightens the recollection of, and
response to, negative memories. Their ndings
have implications for individuals suffering
from insomnia related to post-traumatic stress
disorder (PTSD) and other anxiety disorders
who are prescribed zolpidem (Ambien) to help
them sleep.
In the current study, titled Pharmacologically
Increasing Sleep Spindles Enhances Recognition
for Negative and High-arousal Memories,
which appears in the Journal of Cognitive
Neuroscience, Sara C. Mednick, assistant
professor of psychology at UC Riverside, and
UC San Diego psychologists Erik J. Kaestner
and John T. Wixted determined that a sleep
feature known as sleep spindles bursts of
brain activity that last for a second or less
during a specic stage of sleep are important
for emotional memory. Earlier research by Dr.
Mednick had already demonstrated that sleep
spindles play a critical role in consolidating
information from short-term to long-term
memory in the hippocampus, and that
zolpidem enhanced this process.
We know that sleep spindles are involved in
declarative memory explicit information we
recall about the world, such as places, people,
and events, Dr. Mednick explained.
But until now, researchers had not considered
sleep spindles as playing a role in emotional
memory, focusing instead on rapid eye
AMBIEN HEIGHTENS RECOLLECTION OF
AND RESPONSE TO BAD MEMORIES
movement (REM) sleep. Using two commonly
prescribed sleep aids zolpidem and sodium
oxybate (Xyrem) Mednick, Kaestner, and
Wixted were able to tease apart the effects of
sleep spindles and rapid eye movement (REM)
sleep on the recall of emotional memories.
They determined that sleep spindles, not REM,
affect emotional memory.
The researchers gave zolpidem, sodium
oxybate (Xyrem), and a placebo to 28 men and
women between the ages of 18 and 39 who
were normal sleepers, allowing several days
between doses to allow the pharmaceuticals
to leave their bodies. The participants viewed
standardized images known to elicit positive
and negative responses for one second before
and after taking supervised naps. They recalled
more images that had negative or highly
arousing content after taking zolpidem, a
nding that also suggests that the brain may
favor consolidation of negative memories.
I was surprised by the specicity of the results,
that the emotional memory improvement was
specically for the negative and high-arousal
memories, and the ramications of these results
for people with anxiety disorders and PTSD,
Dr. Mednick said. These are people who
already have heightened memory for negative
and high-arousal memories. Sleep drugs might
be improving their memories for things they
dont want to remember.
Amy Bianco
Medical Section Editor
(compiled from press releases)
AUTUMN 2013
PAGE 11
MICHIANA EDNF BRANCH
2013 AWARENESS MONTH ACTIVITIES
Tanks to Rcard & Pam Malenfant
(pictured aboe)
AUTUMN 2013
PAGE 12
T
HE American Thyroid Association
(ATA) has released a statement advising
against excess ingestion of iodine, and have
published a Tolerable Upper Limit for iodine
of 1,100 mcg per day. Iodine is a micronutrient
required for normal thyroid function, but both
excessive and insufcient amounts of iodine
consumption can cause thyroid dysfunction.
Public health initiatives for the past century
have focused on iodine insufciency, which
can lead to serious health problems such as
goiter, mental retardation, and vulnerability to
thyroid cancer through exposure to radiation.
Nowadays, however, most people in the U.S.
and many other countries get adequate iodine
through the consumption of dairy products,
breads, and seafood, as well as common table
salt, which has been supplemented with iodine
since the 1920s. Since many EDSers consume
extra salt to control symptoms of POTS and
low blood pressure, we should be aware of
this upper limit. One teaspoon of iodized salt
contains about 400 mcg of iodine. Non-iodized
salt is easily available.

IODINE AND SALT
Recommended minimum daily allowances for
iodine intake are 150 mcg for non-pregnant
adults. During pregnancy and lactation, higher
iodine intakes of 220-250 mcg in pregnant
women and 250-290 mcg in breastfeeding
women in the U.S. are encouraged. The ATA
recommends that women take multivitamins
containing 150 mcg iodine daily in the form
of potassium iodide (KI) during preconception,
pregnancy, and lactation to meet these needs.
The public is advised that many iodine,
potassium iodide, and kelp supplements
contain iodine in amounts that are up to
several thousand times higher than the daily
Tolerable Upper Limits for iodine. While there
are a limited number of medical conditions in
which the short-term use of high amounts of
iodine is indicated, there is no known thyroid
benet of routine daily iodine doses in excess
of the U.S. recommended daily allowance.
Amy Bianco
Medical Section Editor

AUTUMN 2013
PAGE 13
CHANGING GUT BACTERIA THROUGH
DIET AFFECTS BRAIN FUNCTION
U
CLA researchers now have the rst
evidence that bacteria ingested in food can
affect brain function in humans. In an early
proof-of-concept study of healthy women, they
found that women who regularly consumed
benecial bacteria known as probiotics through
yogurt showed altered brain function, both
while in a resting state and in response to an
emotion-recognition task.
The study, conducted by scientists with UCLAs
Gail and Gerald Oppenheimer Family Center
for Neurobiology of Stress and the Ahmanson
Lovelace Brain Mapping Center at UCLA,
appears in the June edition of the peer-reviewed
journal Gastroenterology.
The discovery that changing the bacterial
environment, or microbiota, in the gut can
affect the brain carries signicant implications
for future research that could point the way
toward dietary or drug interventions to improve
brain function, the researchers said.
Many of us have a container of yogurt in our
refrigerator that we may eat for enjoyment, for
calcium, or because we think it might help our
health in other ways, said Dr. Kirsten Tillisch, an
associate professor of medicine at UCLAs David
Geffen School of Medicine and lead author of
the study. Our ndings indicate that some of
the contents of yogurt may actually change the
way our brain responds to the environment.
When we consider the implications of this work,
the old sayings you are what you eat and gut
feelings take on new meaning.
Researchers have known that the brain sends
signals to the gut, which is why stress and other
emotions can contribute to gastrointestinal
symptoms. This study shows what has been
suspected but until now had been proved
only in animal studies: that signals travel the
opposite way as well.
Time and time again, we hear from patients
that they never felt depressed or anxious until
they started experiencing problems with their
gut, Tillisch said. Our study shows that the
gutbrain connection is a two-way street.
The small study involved 36 women between
the ages of 18 and 55. Researchers divided
the women into three groups: one group ate
a specic yogurt containing a mix of several
probiotics bacteria thought to have a positive
effect on the intestines twice a day for
four weeks; another group consumed a dairy
product that looked and tasted like the yogurt
but contained no probiotics; and a third group
ate no product at all.
Functional magnetic resonance imaging (fMRI)
scans conducted both before and after the four-
week study period looked at the womens brains
in a state of rest and in response to an emotion-
recognition task in which they viewed a series
of pictures of people with angry or frightened
faces and matched them to other faces showing
the same emotions. This task, designed to
measure the engagement of affective and
cognitive brain regions in response to a visual
stimulus, was chosen because previous research
in animals had linked changes in gut ora to
changes in affective behaviors.
The researchers found that, compared with
the women who didnt consume the probiotic
yogurt, those who did showed a decrease in
activity in both the insula which processes
and integrates internal body sensations, like
AUTUMN 2013
PAGE 14
those form the gut and the somatosensory
cortex during the emotional reactivity task.
Further, in response to the task, these women
had a decrease in the engagement of a
widespread network in the brain that includes
emotion-, cognition-, and sensory-related areas.
The women in the other two groups showed a
stable or increased activity in this network.
During the resting brain scan, the women
consuming probiotics showed greater
connectivity between a key brainstem region
known as the periaqueductal grey and cognition-
associated areas of the prefrontal cortex. The
women who ate no product at all, on the other
hand, showed greater
connectivity of the
periaqueductal grey to
emotion- and sensation-
related regions, while
the group consuming
the non-probiotic dairy
product showed results
in between.
The researchers were
surprised to nd that the brain effects could be
seen in many areas, including those involved
in sensory processing, and not merely those
associated with emotion, Tillisch said.
The knowledge that signals are sent from the
intestine to the brain, and that they can be
modulated by a dietary change, is likely to lead
to an expansion of research aimed at nding
new strategies to prevent or treat digestive,
mental, and neurological disorders, said
Dr. Emeran Mayer, a professor of medicine,
physiology, and psychiatry at the David Geffen
School of Medicine at UCLA, and the studys
senior author.
There are studies showing that what we
eat can alter the composition and products
of the gut ora in particular, that people
with high-vegetable, ber-based diets have a
different composition of their microbiota, or
gut environment, than people who eat the
more typical Western diet that is high in fat
and carbohydrates, Mayer said. Now we
know that this has an effect not only on the
metabolism but also affects brain function.
The UCLA researchers are seeking to pinpoint
particular chemicals produced by gut bacteria
that may be triggering the signals to the brain.
They also plan to study whether people with
gastrointestinal symptoms such as bloating,
abdominal pain, and altered bowel movements
have improvements in their digestive symptoms
that correlate with changes in brain response.
Meanwhile, Mayer
notes that other
researchers are
studying the potential
benets of certain
probiotics in yogurts
on mood symptoms
such as anxiety. He said
that other nutritional
strategies may also be
found to be benecial.
By demonstrating the brain effects of probiotics,
the study also raises the question of whether
repeated courses of antibiotics can affect the
brain, as some have speculated. Antibiotics
are used extensively in neonatal intensive
care units and in childhood respiratory tract
infections, and such suppression of the normal
microbiota may have longterm consequences
on brain development.
Finally, as the complexity of the gut ora and
its effect on the brain is better understood,
researchers may nd ways to manipulate
the intestinal contents to treat chronic pain
conditions or other brain related diseases,
including, potentially, Parkinsons disease,
Alzheimers disease, and autism.
Signals are sent
from the intestine to
the brain, and they
can be modulated by
a dietary change.
AUTUMN 2013
PAGE 15
Answers will be easier to come by in the near
future as the declining cost of proling a
persons microbiota renders such tests more
routine, Mayer said.
The study was funded by Danone Research. Mayer
has served on the companys scientic advisory
board. Three of the study authors (Denis Guyon-
net, Sophie Legrain-Raspaud and Beatrice Trotin)
are employed by Danone Research and were in-
volved in the planning and execution of the study
(providing the products) but had no role in the
analysis or interpretation of the results.
David W. Nadzak
Always have been. A fool who
believes thatdeath is waste and
love is sweet and that the earth turns
and men change every day and that
rivers run and that people want to be
better than they are and that fowers
smell good and that I hurt terribly
today, and that hurt is desperation
and desperation isenergy and
energy can move things

Lorraine Hansberry
The Sign in Sidney Brustein's Window
AUTUMN 2013
PAGE 16
BIKE RUN AND
FUNDRAISER FOR EDNF
Kansas Cty
June 1, 2013
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PAGE 17
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PAGE 18
GENETICS 101:
THE HEREDITARY MATERIAL OF LIFE
Genetics is the study of heredity, the process
in which parents pass certain genes on to
their children. A gene is a short piece of
DNA deoxyribonucleic acid, the hereditary
material in humans and almost all other
organisms. There are estimated to be 20,000 to
25,000 genes in each cell of the human body.
Together, these genes make up the blueprint
for the human body and how it works.
A persons appearance height, hair color, skin
color, and eye color is determined by genes.
Other characteristics affected by heredity
include the likelihood of getting certain
diseases, mental abilities, and natural talents.
An abnormal genetic trait passed down through
families (inherited) may:
Have no effect on your health or well
being for example, it may just involve a
white patch of hair or an extended earlobe;
Be of minor consequence for example,
color blindness;
Have a dramatic effect on your quality or
length of life.
For most genetic disorders, genetic counseling
is advised. Many people may also want to
seek prenatal diagnosis if they plan to have
children. The terms anomaly, abnormality,
disorder, defect, disease, and syndrome are
not used consistently, and do not have precise
denitions.
What is DNA?
DNA, or deoxyribonucleic acid, is the
hereditary material in humans and almost all
other organisms. Nearly every cell in a persons
body has the same DNA. Most DNA is located
in the cell nucleus (where it is called nuclear
DNA), but a small amount of DNA can also be
found in the mitochondria (where it is called
mitochondrial DNA or mtDNA).
The information in DNA is stored as a code made
up of four chemical bases: adenine (A), guanine
(G), cytosine (C), and thymine (T). Human DNA
consists of about three billion bases, and more
than 99 percent of those bases are the same in
all people. The order, or sequence, of these bases
determines the information available for building
and maintaining an organism, similar to the
way in which letters of the alphabet appear in a
certain order to form words and sentences.
DNA bases pair up with each other, A with T
and C with G, to form units called base pairs.
Each base is also attached to a sugar molecule
and a phosphate molecule. Together, a base,
sugar, and phosphate are called a nucleotide.
Nucleotides are arranged in two long strands
that form a spiral called a double helix. The
structure of the double helix is somewhat like a
ladder, with the base pairs forming the ladders
rungs and the sugar and phosphate molecules
forming the vertical sidepieces of the ladder.
An important property of DNA is that it can
replicate, or make copies of itself. Each strand
of DNA in the double helix can serve as a
pattern for duplicating the sequence of bases.
This is critical when cells divide because each
new cell needs to have an exact copy of the
DNA present in the old cell.
What is a gene?
A gene is the basic physical and functional unit
of heredity. Genes, which are made up of DNA,
act as instructions to make molecules called
proteins. In humans, genes vary in size from
a few hundred DNA bases to more than two
AUTUMN 2013
PAGE 19
million bases. The Human Genome Project has
estimated that humans have between 20,000
and 25,000 genes.
Every person has two copies of each gene, one
inherited from each parent. Most genes are the
same in all people, but a small number of genes
(less than one percent of the total) are slightly
different between people. Alleles are forms of the
same gene with small differences in their sequence
of DNA bases. These small differences contribute
to each persons unique physical features.
What is gene therapy?
Gene therapy is an experimental technique
that uses genes to treat or prevent disease. In
the future, this technique may allow doctors
to treat a disorder by inserting a gene into a
patients cells instead of using drugs or surgery.
Researchers are testing several approaches to
gene therapy, including:
Replacing a mutated gene that causes
disease with a healthy copy of the gene.
Inactivating, or knocking out, a mutated
gene that is functioning improperly.
Introducing a new gene into the body to
help ght a disease.
Although gene therapy is a promising treatment
option for a number of diseases (including
inherited disorders, some types of cancer, and
certain viral infections), the technique remains
risky and is still under study to make sure that
it will be safe and effective. Gene therapy is
currently only being tested for the treatment
of diseases that have no other cures.
What is genetic counseling?
Genetic counseling provides information and
support to people who have, or may be at risk
for, genetic disorders. A genetics professional
meets with you to discuss genetic risks. You
may follow up with genetic testing. There are
many reasons to seek genetic counseling. You
may consider it if you:
Have or are concerned you have an
inherited disorder;
Are pregnant or planning to be pregnant
after age 35;
Already have a child with a genetic
disorder or birth defect;
Have had two or more pregnancy losses
or a baby who died;
Have had ultrasound or screening tests
that suggest a possible problem.
Resources for locating a genetics professional
in your community are available online:
The American College of Medical
Genetics, www.acmg.net;
The National Society of Genetic
Counselors, www.nsgc.org;
The National Cancer Institute provides
a Cancer Genetics Services Directory,
www.cancer.gov/cancertopics/genetics/
directory.
Find out more
Genetics Home Reference, http://ghr.nlm.
nih.gov/;
GeneEd Web, http://geneed.nlm.nih.gov/;
MedlinePlus offers a list of links to
information about genes and gene therapy,
http: //www. nl m. ni h. gov/medl i nepl us/
genesandgenetherapy.html;
The fact sheet Gene Therapy from the U.S.
Department of Energy Ofce of Science
offers an overview of this topic, http://
genomics.energy.gov.
Article courtesy of MedlinePlus, Summer 2013
Issue (a publication of The National Institutes of
Health and the Friends of the National Library of
Medicine).
AUTUMN 2013
PAGE 20
Yesterday
Just a half-century ago, very little was known
about the genetic factors that contribute to
human disease.
In 1953, James Watson and Francis Crick
described the double helix structure of
deoxyribonucleic acid (DNA), the chemical
compound that contains the genetic instruc-
tions for building, running, and maintaining
living organisms.
In 1990, the National Institutes of Health
(NIH) and the Department of Energy joined
with international partners in a quest to
sequence all 3 billion letters, or base pairs,
in the human genome, which is the com-
plete set of DNA in the human body. This
concerted, public effort was the Human
Genome Project.
The Human Genome Projects goal was to
provide researchers with powerful tools to
understand the genetic factors in human
disease.
All data generated by the Human Genome
Project were made freely and rapidly avail-
able on the Internet.
The Human Genome Project spurred a revo-
lution in biotechnology innovation around
the world and played a key role in making
the U.S. the global leader in the new bio-
technology sector.
In April 2003, researchers successfully com-
pleted the Human Genome Project, under
budget and more than two years ahead of
schedule.
UNDERSTANDING THE HUMAN
GENOME PROJECT A FACT SHEET
Today
The Human Genome Project has already
fueled the discovery of more than 1,800 dis-
ease genes.
As a result of the Human Genome Project,
todays researchers can nd a gene sus-
pected of causing an inherited disease in a
matter of days, rather than the years it took
before the genome sequence was in hand.
There are now more than 2,000 genetic tests
for human conditions. These tests enable
patients to learn their genetic risks for dis-
ease and also help healthcare professionals
to diagnose disease.
Having the complete sequence of the human
genome is similar to having all the pages of
a manual needed to make the human body.
The challenge now is to determine how to
read the contents of these pages and under-
stand how all of these many, complex parts
work together in human health and disease.
With the drastic decline in the cost of
sequencing whole exomes or genomes,
groundbreaking comparative genomic stud-
ies are now identiying the causes of rare
diseases.
Much work still remains to be done. Despite
many important genetic discoveries, the
genetics of complex diseases such as heart
disease are still far from clear.
Tomorrow
An ambitious new initiative, The Cancer
Genome Atlas (http://cancergenome.nih.
gov), aims to identify all the genetic abnor-
malities seen in 50 major types of cancer.
AUTUMN 2013
PAGE 21
Based on a deeper understanding of disease
at the genomic level, we will see a whole
new generation of targeted interventions,
many of which will be drugs that are much
more effective and cause fewer side effects
than those available today.
NIH is striving to cut the cost of sequencing
an individuals genome to $1,000 or less.
Individualized analysis based on each per-
sons genome will lead to a powerful form
of preventive, personalized, and preemptive
medicine. By tailoring recommendations to
each persons DNA, health care profession-
als will be able to work with individuals to
focus efforts on the specic strategiesfrom
diet to high-tech medical surveillancethat
are most likely to maintain health for that
particular individual.
The increasing ability to connect DNA varia-
tion with non-medical conditions, such as
intelligence and personality traits, will chal-
lenge society, making the role of ethical,
legal, and social implications research more
important than ever.
National Human Genome Research Institute
(NHGRI), www.genome.gov. For the full
text of this Human Genome Project Fact
Sheet and additional information, contact the
Communications and Public Liaison Branch,
NHGRI, at (301) 402-0911.
Art: Cherish Fletcher
Cherish Fletcher is an artist with EDS. More
information can be found at on Facebook at
Cherished Whimsy Art.
AUTUMN 2013
PAGE 22
Te Magazine About Living With EDS
PUBLISHED BY
FOUNDER
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19571995
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Heidi Collins, MD
Clair Francomano, MD
Deb Makowski
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Professional Advisory Network
Patrick Agnew, DPM
Peter Byers, MD
Edith Cheng, MD
Heidi Collins, MD
Joseph Coselli, MD, FACC
Joseph Ernest III, MD
Clair Francomano, MD
Tamison Jewett, MD
Mark Lavallee, MD
Howard Levy, MD, PhD
Nazli McDonnell, MD, PhD
Dianna Milewicz, MD, PhD
Anna Mitchell, MD, PhD
John Mitakides, DDS, FAACP
Raman Mitra, MD, PhD
Linda Neumann-Potash, RN, MN
Terry Olson, PT
Mary F. Otterson, MD, MS
Melanie Pepin, MS, CSG
Alan Pocinki, MD, FACP
Elizabeth Russell, MD
Ulrike Schwarze, MD
Karen Sparrow, PhD
Brad Tinkle, MD, PhD
Mike Yergler, MD
L OOS E CONNECTIONS
AUTUMN 2013
PAGE 23
Editor/Graphics & Type
Mark C. Martino
Editor, Medical Section
Amy Bianco
Front Cover Photograph
Creek and Barn, Park City, Utah
rhyman007 | iStockphoto.com
Page 12
Birch forest in sunlight in the morning
nereia
Page Headers and Detail Photographs
Soft red leaves 2005 Mayang Adnin
Strawberries 2004 Mayang Adnin
Red and green large leaf 2005 Mayang Adnin
Conference Photography EDNF Staff
Kansas City Photography Debbie White
Below
Peggy's Cove, Nova Scotia
Mapps