looseconnections 2013 autumns

7/27/2019 LooseConnections 2013 AutumnS

1/23

L O O S E CONNECTIONS

Your Mgazie Abou Livig Wih EDS Autumn 20

EDNF 2013 Learning Conerence Photographs .................................................................................... 2

The Distinction Between Pain & SueringNoah Baerman .................................................................. 6

Ambien Heightens Recollection o and Response to Bad Memories Amy Bianco ................................. 10

Michiana EDNF Branch 2013 Awareness Month Activities................................................................ 11

Iodine and SaltAmy Bianco ............................................................................................................ 12

Changing Gut Bacteria Through Diet Aects Brain Function ............................................................. 13

David W. Nadzak ............................................................................................................................ 15

Kansas City Bike Run and Fundraiser or EDNF................................................................................ 16

Genetics 101: The Hereditary Material o Lie ................................................................................... 18

Understanding the Human Genome Project A Fact Sheet................................................................ 20

Art: Cherish Fletcher........................................................................................................................ 21

Publishers Index ............................................................................................................................ 22
http://www.ednf.org/


2/23

AUTUMN 2013PAGE 2

2013 Learning ConferenceRhode Island Convention Center/e Omni Providence

Providence, Rhode Island August 1-3

HandsPlease visit the presentation handouts page to catch up on what was oered duringthe conerence. Material continues to be added as speakers send it in, so checkoccasionally i a session in which you were interested is missing.
http://bit.ly/103q8JBhttp://bit.ly/103q8JBhttp://www.ednf.org/


3/23

AUTUMN 2013PAGE 3


4/23

AUTUMN 2013PAGE 4


5/23

AUTUMN 2013PAGE 5


6/23

AUTUMN 2013PAGE 6

in Baltimore had been a real eye-opener or

me then; he gave a talk or all assembledas well as oering a breakout session and

miscellaneous commentary at various Q&A

events. I did not attend last years conerence

in Cincinnati, but Dr. Levy reerenced some

controversy over comments he made there

surrounding the need to address mental health

as part o a truly eective plan or managing

EDS (and, one might reasonably extrapolate,

any physical challenge).

I was initially taken aback by the notion that

anybody would be oended by the mention

o mental health or the suggestion to seek

counseling. Looking at it objectively, it makes

sense that there would be this resistance rom

a couple o 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 o the notion that it is or the weak

and/or crazy. I eel like most people could useone sort o counseling or another with a skilled

practitioner, but not everybody eels this way

(this is, o course, coming rom somebody

who is surrounded by people working through

various sorts o trauma; my cats even have

PTSD).

Folks with EDS, meanwhile, are particularly

sensitive to the subject as so many o us have

been accused o malingering, hypochondria,exaggeration, opportunistic abrication, and

other orms o 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 o their physical

symptoms, and there was even a brilliant talk

at the conerence 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 rom this past

weekends Ehlers-Danlos LearningConerence. Thursday night I had the privilege

o perorming and speaking and then I spent

Friday and Saturday surrounded by knowledge,

whether that o some o the leading doctors

and researchers in the eld or that o the

individuals and amilies struggling, as I do,

with Ehlers-Danlos syndrome (EDS) every day.

Something that I ound particularly

encouraging was that not only is the researchinto the physiology o EDS moving orward, but

there is a greater embracing o the seemingly

peripheral elements that play a large role in

governing our overall wellness. For example,

at my rst conerence in 2002 I was struck by

the virtual absence o healthy ood 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 ood in

a meaningul way, yet I only met one otherperson at that conerence who spoke about

nutrition and I barely spoke to him, because

the main social mixers were the meals, during

which he fed the site to get healthy ood. The

word holistic is used so much nowadays as

to render it almost inert, but it really applies

here each aspect o ones overall wellness and

lie situation (nutrition, tness, medications,

emotional/mental health, nancial stability) is

integrated with the rest and plays a role in theoverall outcome. This has gone rom unspoken

to lip service to being increasingly integrated

into the abric o the discussions and o the

way the conerences themselves are run.

One o the speakers present this year was Dr.

Howard Levy (no, not the piano/harmonica

guy rom Bela Fleck and the Flecktones, at least

so he claims), whose talk at the 2010 conerence


7/23

AUTUMN 2013PAGE 7

inadequate treatment o physical symptoms

stemming rom EDS. With or without EDS,

most o us can relate to those moments when

we are upset or a genuine reason and thus react

with hostility when someone insinuates that

we need to manage our anger or rustration,

something that even i totally valid can eel

like a dismissal o the legitimacy o the root

cause or our being upset in the rst place.

Ultimately, though, Dr. Levys point is not

only valid, but essential indeed, it would be

irresponsible o him to hold that observation

back simply or ear o rubbing olks the wrong

way. I ound mysel thinking back to the rst

psychology course, and specically to learning

the actual denition o psychosomatic. I hadalways thought it meant its in your head,

but in act it means that it originates rom

your head, something that oten results in

legitimate, measurable

physiological outcomes.

I would be pretty

shocked i anyone

reading this had gone

his or her whole

lie immune to thisphenomenon. When

youre stressed out or

whatever reason, it

aects your joint pain,

your GI unctioning,

your ability to stay hydrated, your heart

rate and blood fow and so on. I you have

never stepped back during a reak-out and

objectively observed the changes in your body,

I suggest doing so (and i youve never reakedout, then I suggest you come and give me some

meditation lessons).

When I was in my mid-to-late 20s, I really elt

the ull weight o what EDS meant or me

(limitations to my career, to my recreational

activities, to my capacity to nd respite rom

chronic pain) and that led me to seek counseling

(therapist three o our, or those keeping score

at home). The most resonant thing I took away

rom that session was the distinction between

pain and suering, two words and concepts that

are oten (but erroneously) treated as synonyms

From this perspective pain is a thoroughly

objective phenomenon receptors are triggered

in your body and sensations result. Suering,

on the other hand, is a completely subjective

phenomenon we emotionally process our

situation (whether our global lie situation or

the moment at hand) as being negative and

respond accordingly. The negative side o

this is something or which most o us neednt

look ar to nd examples. Have you ever seen

people whose suering seemed to outweigh

the gravity o their situations? Have you everthought, Geez, why are you so upset over

that? or, You thinkyou have problems? We

all understand that subjectivity.

What I am ortunate to

have gured out during

that pivotal moment

in my 20s, though, is

that this subjectivity

can be used as a orceor good. That is, it is

equally possible (and

or all we know maybe

equally common and

just less dramatically

visible) to have a level o suering that is

less than what one would expect or a given

persons level o adversity, and that includes

physical pain. Managing pain is an important

and medically necessary step or someone withchronic issues, but managing suering is at

least as important insoar as we are ultimately

measuring quality o lie.

I spent much o the two days ater hearing Dr.

Levys talk contemplating this phenomenon

and how it pertains to the wellness o not

just EDS suerers, but most people. As i the

universe were demanding I write this post, I

If you have never stepped

back during a freak-out

and objectively observedthe changes in your body,

I suggest doing so.


8/23

AUTUMN 2013PAGE 8

had two experiences over the weekend that

underscored this as not just an important

abstract concept, but as central to my own lie.

First, while in Providence or the conerence, we

stayed with our daughter and son-in-law and

during our conerence downtime had a truly

delightul time with them. Periodically I would

step back and check in with my body yep,

plenty o pain, no doubt about that. But I was

too busy being stimulated and happy or that

pain to turn into suering.

Meanwhile, we came home late Saturday,

and Sunday I exercised or the rst time in

days and promptly threw out my lower back

(L4, or those still keeping score at home).

What I observed in mysel or the remaindero the day was the welling-up o all sorts o

negative emotions beyond the objective reality

o the days back pain and impairment. Why

did I exercise without having been properly

vigilant with my lumbar stabilization exercises

or the previous couple o weeks? What will

happen to my back and to the work that maybe

I wont be able to do as a result?Howam I still

going to go away with my wie and kids or

the already-brie vacation wed planned? Whatwill this mean or Kate, who will now have to

compensate or my incapacitation? Whatkind

o a raud am I or speaking at the conerence

as i Im a success story and then this happens?

I your heart rate isnt going up a little just rom

reading this, then you are either very grounded

or have a heart o stone.

The thing is, all o 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. I I had let them run rampant, I would

have spent the evening (and beyond) in a pit

o suering. 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 ew o them

and just let mysel accept the reality o the

moment and rest. I got a great night o sleep

Did I eel better in the morning? Thats airly

irrelevant, but what I can say is that I elt a

hell o a lot better than I would have i I had

spent the night bemoaning my lot in lie orwallowing in shame over my ragility. Been

there, done that. Its no un and accomplishes

nothing good.

Like any important lie lesson, this isnt easy

or instantaneous to implement. But part o

having any kind o physical adversity is in your

head and rom your head, it moves right

back into your body to ester and wreak havoc

Certainly those with chronic issues like EDShave enough havoc! Thanks or the reminder,

Dr. Levy both rom me and on behal o

anyone reading this who may have pain but

can begin to take command o suering.

Nh BrmnJazz musician, composer, author & educator

www.noahjazz.com

Pain is ineviabe. Sfering is pial.aruki Murakami

Te pain mind is wrse tan pain bdy.

ubiius rus
http://www.noahjazz.com/http://www.noahjazz.com/http://www.ednf.org/


9/23

AUTUMN 2013PAGE 9

THROUGH SUPERIOR PHYSICIANTRAINING & SCIENTIFIC ADVANCEMENT

EHLERS-DANLOS National Foundation

(EDNF) is ullling its mission to

provide resources or medical practitioners

as well as patients suering rom Ehlers-

Danlos syndrome (EDS) by opening the rst

and only clinic dedicated to EDS patient

care, proessional education, and research.

In partnership with the Greater Baltimore

Medical Center (GBMC), the EDNF Center

or Clinical Care & Research is scheduled to

open in August, 2014 and will be housed

at GBMCs Harvey Institute or Human

Genetics in Towson, Maryland. This premier

EDS research and treatment acility will

IMPROVING PATIENT TREATMENT

FOR EHLERS-DANLOS SYNDROME

provide comprehensive clinical care or

patients, proessional education or physiciansand cutting-edge EDS research. It will be a

place where new treatment options or patients

can be explored and where physicians can learn

about this debilitating disease.

Funds will be used to establish a permanent

endowment in support o operating

expenses o this multidisciplinary clinic

including: personnel, materials, equipment,

exam room construction, research, andproessional education.

We need your help as we seek to improve the

experience o EDS in our lietime.

All contributions to this lie-saving work are

sincerely appreciated. Make checks payable to

EDNF or give online at www.ednf.org.

Dr. Clair Francomano (Director, EDNF Center or Clinical Care and Research), Shane Robinson (Executive

Director, EDNF), Dr. John B. Chessare (President & Chie Executive Ofcer, GBMC HealthCare), and Elliot H.

Clark (Chair Emeritus, EDNF Board o Directors)
https://netforum.avectra.com/eweb/shopping/shopping.aspx?site=ednf&webcode=shopping&prd_key=3d4d7624-804a-445f-adf8-2078a67707f1https://netforum.avectra.com/eweb/shopping/shopping.aspx?site=ednf&webcode=shopping&prd_key=3d4d7624-804a-445f-adf8-2078a67707f1http://www.ednf.org/


10/23

AUTUMN 2013PAGE 10

S

LEEP researchers rom University o

Caliornia campuses in Riverside and SanDiego have identied the sleep mechanism

that enables the brain to consolidate emotional

memory, and ound that a popular prescription

sleep aid heightens the recollection o, and

response to, negative memories. Their ndings

have implications or individuals suering

rom 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

or Negative and High-arousal Memories,

which appears in the Journal o Cognitive

Neuroscience, Sara C. Mednick, assistant

proessor o psychology at UC Riverside, and

UC San Diego psychologists Erik J. Kaestner

and John T. Wixted determined that a sleep

eature known as sleep spindles bursts obrain activity that last or a second or less

during a specic stage o sleep are important

or emotional memory. Earlier research by Dr.

Mednick had already demonstrated that sleep

spindles play a critical role in consolidating

inormation rom short-term to long-term

memory in the hippocampus, and that

zolpidem enhanced this process.

We know that sleep spindles are involved indeclarative memory explicit inormation 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, ocusing instead on rapid eye

AMBIEN HEIGHTENS RECOLLECTION OF

AND RESPONSE TO BAD MEMORIES

movement (REM) sleep. Using two commonly

prescribed sleep aids zolpidem and sodiumoxybate (Xyrem) Mednick, Kaestner, and

Wixted were able to tease apart the eects o

sleep spindles and rapid eye movement (REM)

sleep on the recall o emotional memories

They determined that sleep spindles, not REM

aect emotional memory.

The researchers gave zolpidem, sodium

oxybate (Xyrem), and a placebo to 28 men and

women between the ages o 18 and 39 whowere 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 or one second beore

and ater taking supervised naps. They recalled

more images that had negative or highly

arousing content ater taking zolpidem, a

nding that also suggests that the brain may

avor consolidation o negative memories.

I was surprised by the specicity o the results,

that the emotional memory improvement was

specically or the negative and high-arousal

memories, and the ramications o these results

or people with anxiety disorders and PTSD,

Dr. Mednick said. These are people who

already have heightened memory or negative

and high-arousal memories. Sleep drugs might

be improving their memories or things theydont want to remember.

Amy BcMedical Section Editor

(compiled rom press releases)


11/23

AUTUMN 2013PAGE 11

MICHIANA EDNF BRANCH

2013 AWARENESS MONTH ACTIVITIES

Tanks Rcard & am Maenan(piured aboe)


12/23

AUTUMN 2013PAGE 12

T

HE American Thyroid Association

(ATA) has released a statement advisingagainst excess ingestion o iodine, and have

published a Tolerable Upper Limit or iodine

o 1,100 mcg per day. Iodine is a micronutrient

required or normal thyroid unction, but both

excessive and insucient amounts o iodine

consumption can cause thyroid dysunction.

Public health initiatives or the past century

have ocused on iodine insuciency, which

can lead to serious health problems such as

goiter, mental retardation, and vulnerability tothyroid cancer through exposure to radiation.

Nowadays, however, most people in the U.S.

and many other countries get adequate iodine

through the consumption o dairy products,

breads, and seaood, as well as common table

salt, which has been supplemented with iodine

since the 1920s. Since many EDSers consume

extra salt to control symptoms o POTS and

low blood pressure, we should be aware o

this upper limit. One teaspoon o iodized saltcontains about 400 mcg o iodine. Non-iodized

salt is easily available.

IODINE AND SALT

Recommended minimum daily allowances or

iodine intake are 150 mcg or non-pregnantadults. During pregnancy and lactation, higher

iodine intakes o 220-250 mcg in pregnant

women and 250-290 mcg in breasteeding

women in the U.S. are encouraged. The ATA

recommends that women take multivitamins

containing 150 mcg iodine daily in the orm

o potassium iodide (KI) during preconception

pregnancy, and lactation to meet these needs

The public is advised that many iodine,

potassium iodide, and kelp supplementscontain iodine in amounts that are up to

several thousand times higher than the daily

Tolerable Upper Limits or iodine. While there

are a limited number o medical conditions in

which the short-term use o high amounts o

iodine is indicated, there is no known thyroid

benet o routine daily iodine doses in excess

o the U.S. recommended daily allowance.

Amy BcMedical Section Editor


13/23

AUTUMN 2013PAGE 13

CHANGING GUT BACTERIA THROUGH

DIET AFFECTS BRAIN FUNCTION

U

CLA researchers now have the rst

evidence that bacteria ingested in ood canaect brain unction in humans. In an early

proo-o-concept study o healthy women, they

ound that women who regularly consumed

benecial bacteria known as probiotics through

yogurt showed altered brain unction, 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 Centeror Neurobiology o Stress and the Ahmanson

Lovelace Brain Mapping Center at UCLA,

appears in the June edition o the peer-reviewed

journal Gastroenterology.

The discovery that changing the bacterial

environment, or microbiota, in the gut can

aect the brain carries signicant implications

or uture research that could point the way

toward dietary or drug interventions to improvebrain unction, the researchers said.

Many o us have a container o yogurt in our

rerigerator that we may eat or enjoyment, or

calcium, or because we think it might help our

health in other ways, said Dr. Kirsten Tillisch, an

associate proessor o medicine at UCLAs David

Geen School o Medicine and lead author o

the study. Our ndings indicate that some o

the contents o yogurt may actually change theway our brain responds to the environment.

When we consider the implications o this work,

the old sayings you are what you eat and gut

eelings 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 theopposite way as well.

Time and time again, we hear rom patients

that they never elt 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 o 18 and 55. Researchers dividedthe women into three groups: one group ate

a specic yogurt containing a mix o several

probiotics bacteria thought to have a positive

eect on the intestines twice a day or

our 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 (MRI)scans conducted both beore and ater the our-

week study period looked at the womens brains

in a state o rest and in response to an emotion-

recognition task in which they viewed a series

o pictures o people with angry or rightened

aces and matched them to other aces showing

the same emotions. This task, designed to

measure the engagement o aective and

cognitive brain regions in response to a visual

stimulus, was chosen because previous researchin animals had linked changes in gut fora to

changes in aective behaviors.

The researchers ound 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


14/23

AUTUMN 2013PAGE 14

those orm 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 o 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 o the prerontal cortex. The

women who ate no product at all, on the other

hand, showed greaterconnectivity o the

periaqueductal grey to

emotion- and sensation-

related regions, while

the group consuming

the non-probiotic dairy

product showed results

in between.

The researchers weresurprised to nd that the brain eects 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 rom the

intestine to the brain, and that they can be

modulated by a dietary change, is likely to lead

to an expansion o research aimed at nding

new strategies to prevent or treat digestive,mental, and neurological disorders, said

Dr. Emeran Mayer, a proessor o medicine,

physiology, and psychiatry at the David Geen

School o Medicine at UCLA, and the studys

senior author.

There are studies showing that what we

eat can alter the composition and products

o the gut fora in particular, that people

with high-vegetable, ber-based diets have a

dierent composition o their microbiota, or

gut environment, than people who eat the

more typical Western diet that is high in at

and carbohydrates, Mayer said. Now we

know that this has an eect not only on the

metabolism but also aects brain unction.

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 o certain

probiotics in yogurts

on mood symptoms

such as anxiety. He said

that other nutritional

strategies may also beound to be benecial.

By demonstrating the brain eects o probiotics,

the study also raises the question o whether

repeated courses o antibiotics can aect the

brain, as some have speculated. Antibiotics

are used extensively in neonatal intensive

care units and in childhood respiratory tract

inections, and such suppression o the normal

microbiota may have longterm consequenceson brain development.

Finally, as the complexity o the gut fora and

its eect 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.


15/23

AUTUMN 2013PAGE 15

Answers will be easier to come by in the near

uture as the declining cost o proling a

persons microbiota renders such tests more

routine, Mayer said.

The study was unded by Danone Research. Mayer

has served on the companys scientifc advisory

board. Three o 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 o the study

(providing the products) but had no role in the

analysis or interpretation o 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


16/23

AUTUMN 2013PAGE 16

BIKE RUN AND

FUNDRAISER FOR EDNF

Kansas CyJune 1, 2013


17/23

AUTUMN 2013PAGE 17


18/23

AUTUMN 2013PAGE 18

GENETICS 101:

THE HEREDITARY MATERIAL OF LIFE

Genetics is the study o heredity, the process

in which parents pass certain genes on totheir children. A gene is a short piece o

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 o the human body.

Together, these genes make up the blueprint

or the human body and how it works.

A persons appearance height, hair color, skin

color, and eye color is determined by genes.Other characteristics aected by heredity

include the likelihood o getting certain

diseases, mental abilities, and natural talents.

An abnormal genetic trait passed down through

amilies (inherited) may:

Have no eect on your health or well

being or example, it may just involve a

white patch o hair or an extended earlobe; Be o minor consequence or example,

color blindness;

Have a dramatic eect on your quality or

length o lie.

For most genetic disorders, genetic counseling

is advised. Many people may also want to

seek prenatal diagnosis i they plan to have

children. The terms anomaly, abnormality,

disorder, deect, disease, and syndrome arenot 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 o DNA can also be

ound in the mitochondria (where it is calledmitochondrial DNA or mtDNA).

The inormation in DNA is stored as a code made

up o our chemical bases: adenine (A), guanine

(G), cytosine (C), and thymine (T). Human DNA

consists o about three billion bases, and more

than 99 percent o those bases are the same in

all people. The order, or sequence, o these bases

determines the inormation available or building

and maintaining an organism, similar to theway in which letters o the alphabet appear in a

certain order to orm words and sentences.

DNA bases pair up with each other, A with T

and C with G, to orm 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 orm a spiral called a double helix. Thestructure o the double helix is somewhat like a

ladder, with the base pairs orming the ladders

rungs and the sugar and phosphate molecules

orming the vertical sidepieces o the ladder.

An important property o DNA is that it can

replicate, or make copies o itsel. Each strand

o DNA in the double helix can serve as a

pattern or duplicating the sequence o bases

This is critical when cells divide because eachnew cell needs to have an exact copy o the

DNA present in the old cell.

What is a gene?

A gene is the basic physical and unctional unit

o heredity. Genes, which are made up o DNA

act as instructions to make molecules called

proteins. In humans, genes vary in size rom

a ew hundred DNA bases to more than two


19/23

AUTUMN 2013PAGE 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, oneinherited from each parent. Most genes are thesame in all people, but a small number of genes(less than one percent of the total) are slightlydifferent between people. Alleles are forms of thesame gene with small differences in their sequenceof DNA bases. These small differences contributeto each persons unique physical features.

What is gene therapy?

Gene therapy is an experimental technique

that uses genes to treat or prevent disease. Inthe uture, this technique may allow doctors

to treat a disorder by inserting a gene into a

patients cells instead o using drugs or surgery.

Researchers are testing several approaches to

gene therapy, including:

Replacing a mutated gene that causes

disease with a healthy copy o the gene.

Inactivating, or knocking out, a mutated

gene that is unctioning improperly. Introducing a new gene into the body to

help ght a disease.

Although gene therapy is a promising treatment

option or a number o diseases (including

inherited disorders, some types o cancer, and

certain viral inections), the technique remains

risky and is still under study to make sure that

it will be sae and eective. Gene therapy is

currently only being tested or the treatmento diseases that have no other cures.

What is genetic counseling?

Genetic counseling provides inormation and

support to people who have, or may be at risk

or, genetic disorders. A genetics proessional

meets with you to discuss genetic risks. You

may ollow up with genetic testing. There are

many reasons to seek genetic counseling. You

may consider it i you:

Have or are concerned you have an

inherited disorder;

Are pregnant or planning to be pregnant

ater age 35;

Already have a child with a genetic

disorder or birth deect;

Have had two or more pregnancy losses

or a baby who died;

Have had ultrasound or screening tests

that suggest a possible problem.

Resources or locating a genetics proessional

in your community are available online:

The American College o Medical

Genetics, www.acmg.net;

The National Society o 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 Reerence, http://ghr.nlm

nih.gov/;

GeneEd Web, http://geneed.nlm.nih.gov/;

MedlinePlus oers a list o links to

inormation about genes and gene therapy,

http://www.nlm.nih.gov/medl ineplus/

genesandgenetherapy.html;

The act sheet Gene Therapy rom the U.S

Department o Energy Oce o Scienceoers an overview o this topic, http://

genomics.energy.gov.

Article courtesy oMedlinePlus, Summer 2013

Issue (a publication o The National Institutes o

Health and the Friends o the National Library o

Medicine).
http://www.acmg.net/http://www.nsgc.org/http://www.cancer.gov/cancertopics/genetics/directoryhttp://www.cancer.gov/cancertopics/genetics/directoryhttp://ghr.nlm.nih.gov/http://ghr.nlm.nih.gov/http://geneed.nlm.nih.gov/http://www.nlm.nih.gov/medlineplus/genesandgenetherapy.htmlhttp://www.nlm.nih.gov/medlineplus/genesandgenetherapy.htmlhttp://genomics.energy.gov/http://genomics.energy.gov/http://genomics.energy.gov/http://genomics.energy.gov/http://www.nlm.nih.gov/medlineplus/genesandgenetherapy.htmlhttp://www.nlm.nih.gov/medlineplus/genesandgenetherapy.htmlhttp://geneed.nlm.nih.gov/http://ghr.nlm.nih.gov/http://ghr.nlm.nih.gov/http://www.cancer.gov/cancertopics/genetics/directoryhttp://www.cancer.gov/cancertopics/genetics/directoryhttp://www.nsgc.org/http://www.acmg.net/http://www.ednf.org/


20/23

AUTUMN 2013PAGE 20

Yesterday

Just a hal-century ago, very little was known

about the genetic actors that contribute to

human disease.

In 1953, James Watson and Francis Crick

described the double helix structure o

deoxyribonucleic acid (DNA), the chemical

compound that contains the genetic instruc-

tions or building, running, and maintaining

living organisms.

In 1990, the National Institutes o Health

(NIH) and the Department o 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 o DNA in the human body. This

concerted, public eort was the Human

Genome Project.

The Human Genome Projects goal was to

provide researchers with powerul tools to

understand the genetic actors in human

disease.

All data generated by the Human Genome

Project were made reely 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 successully com-

pleted the Human Genome Project, under

budget and more than two years ahead o

schedule.

UNDERSTANDING THE HUMAN

GENOME PROJECT A FACT SHEET

Today

The Human Genome Project has already

ueled the discovery o more than 1,800 dis-

ease genes.

As a result o the Human Genome Project,

todays researchers can nd a gene sus-

pected o causing an inherited disease in a

matter o days, rather than the years it took

beore the genome sequence was in hand

There are now more than 2,000 genetic testsor human conditions. These tests enable

patients to learn their genetic risks or dis-

ease and also help healthcare proessionals

to diagnose disease.

Having the complete sequence o the human

genome is similar to having all the pages o

a manual needed to make the human body

The challenge now is to determine how to

read the contents o these pages and under-stand how all o these many, complex parts

work together in human health and disease

With the drastic decline in the cost o

sequencing whole exomes or genomes

groundbreaking comparative genomic stud-

ies are now identiying the causes o rare

diseases.

Much work still remains to be done. Despitemany important genetic discoveries, the

genetics o complex diseases such as heart

disease are still ar rom clear.

Tomorrow

An ambitious new initiative, The Cancer

Genome Atlas (http://cancergenome.nih

gov), aims to identiy all the genetic abnor-

malities seen in 50 major types o cancer.
http://cancergenome.nih.gov/http://cancergenome.nih.gov/http://cancergenome.nih.gov/http://cancergenome.nih.gov/http://www.ednf.org/


21/23

AUTUMN 2013PAGE 21

Based on a deeper understanding o disease

at the genomic level, we will see a whole

new generation o targeted interventions,

many o which will be drugs that are much

more eective and cause ewer side eects

than those available today.

NIH is striving to cut the cost o sequencing

an individuals genome to $1,000 or less.

Individualized analysis based on each per-

sons genome will lead to a powerul orm

o preventive, personalized, and preemptive

medicine. By tailoring recommendations to

each persons DNA, health care proession-

als will be able to work with individuals to

ocus eorts on the specic strategiesromdiet to high-tech medical surveillancethat

are most likely to maintain health or 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 o ethical

legal, and social implications research more

important than ever.

National Human Genome Research Institute

(NHGRI), www.genome.gov. For the ull

text o this Human Genome Project Fact

Sheet and additional inormation, contact the

Communications and Public Liaison Branch,

NHGRI, at (301) 402-0911.

Art: Cherish Fletcher

Cherish Fletcher is an artist with EDS. More

inormation can be ound at on Facebook at

Cherished Whimsy Art.
http://www.genome.gov/http://www.facebook.com/pages/Cherished-Whimsy-Art/494855353922968http://www.facebook.com/pages/Cherished-Whimsy-Art/494855353922968http://www.genome.gov/http://www.ednf.org/


22/23

AUTUMN 2013PAGE 22

Te Mgazie About Livig Wih EDS

PUBLISHED BY

FOUNDER

Nancy Hanna Rogowski

19571995

Executive DirectorShane Robinson

Board of Directors

Sandra Aiken Chack, Chair

Judge Richard P. Goldenhersh, Vice Chair

Richie Taffet, BS, MPH, Secretary

Richard Malenfant, Treasurer

Elliot H. Clark, Chair Emeritus

Heidi Collins, MD

Clair Francomano, MD

Deb Makowski

Linda Neumann-Potash, RN, MN, CBN

Janine Sabal

To contact EDNF, email [email protected]; write to

Ehlers-Danlos National Foundation, 1760 Old Meadow

Road, Suite 500, McLean, Virginia 22102; or call

(703) 506-2892.

GUIDELINES FOR SUBMISSIONS TO LOOSE CONNECTIONS

Attach your text document in either Word (.doc) or Rich Text Format (.rt) to an email sent to [email protected] or [email protected] that also tells us how to reach you or more inormation. For photographs, attach them to an email to [email protected] [email protected]; please identiy the event or cause or the photographs, including any relevant identication (personsinvolved, date, photographers name i needed) and how to reach you or more inormation.

Text articles, photographs, or any other submissions to Loose Connections are accepted only on condition that publication o thatmaterial is not under restrictions on its publication. Ehlers-Danlos National Foundation reserves all and nal editorial privileges,including the right to choose not to print a submitted story; submissions may be edited at the discretion o the editorial sta.

Copyright retained by contributors where applicable and 2013 Ehlers-Danlos National Foundation i not otherwise protected.The opinions expressed inLoose Connections are those o the contributors or advertisers, and do not necessarily refect the viewso Ehlers-Danlos National Foundation, Inc., the editorial sta, Proessional Advisory Network, or the Board o Directors. EDNFdoes not endorse any products.

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, MSMelanie Pepin, MS, CSG

Alan Pocinki, MD, FACP

Elizabeth Russell, MD

Ulrike Schwarze, MD

Karen Sparrow, PhD

Brad Tinkle, MD, PhD

Mike Yergler, MD

L O O S E CONNECTIONS
mailto:ednfstaff%40ednf.org?subject=mailto:ednfstaff%40ednf.org?subject=http://www.ednf.org/


23/23

AUTUMN 2013PAGE 23

Editor/Graphics & Type

Mark C. Martino

Editor, Medical Section

Amy Bianco

Front Cover PhotographCreek 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 PhotographyEDNF Staff

Kansas City PhotographyDebbie White

Below

Peggy's Cove, Nova Scotia

Mapps

looseconnections 2013 autumns

Documents