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Feinstein Institute: Researching a Family Tree of Autoimmune Disorders

(PRWEB) September 3, 2008 -- In July, Christine Demers and Areeba Sadiq set off for a family reunion in Arkansas. The nurse and the research coordinator at The Feinstein Institute for Medical Research were not blood relatives but they were going West in search of the serum that binds this family. More precisely, their DNA.

Every year, four generations of this Arkansas family, now spread throughout the country, meet in Mount Magazine State Park for three days of food and family togetherness. This reunion had an extra twist. In an adjacent room, Ms. Demers and Ms. Sadiq had set up a makeshift laboratory to collect blood samples from the family - many of whom have inherited an unfortunate legacy of autoimmune disorders. It's a melting pot of rheumatoid arthritis, thyroid disease, Crohn's disease, asthma and multiple sclerosis.

Normally, about three percent of the population has some kind of autoimmune condition. The MADGC study, short for Multiple Autoimmune Disease Genetics Consortium, is in its second round of research to identify genes that are common to many autoimmune diseases. Scientists at The Feinstein Institute for Medical Research in Manhasset, NY, have set out to collect genetic information from 400 to 800 families over a five-year period.

In the large Arkansas family, scientists have estimated that about 27 percent of its members have an autoimmune condition, which has its roots in the genes that they inherited. Feinstein scientists are combing the human genome in search of risk genes for autoimmune diseases in families heavily burdened with such conditions and the environmental events that may trigger an underlying susceptibility.

It took this latest adult generation to figure out that autoimmune problems have been a part of the family for generations.

Three years ago, Mary Folley, a statistician living in North Carolina, was diagnosed with multiple sclerosis. MS has been added to the growing list of autoimmune disorders, including rheumatoid arthritis, diabetes, and thyroid problems. Ms. Folley's neurologist thought that she may also have another autoimmune disease and ordered a test.

The doctor's suspicion about a second disease was wrong, but it sent the 40-year-old to the Internet in search of answers to multiple autoimmune diseases. She found the research site of Peter K. Gregersen, MD, head of The Feinstein Institute's Robert S. Boas Center for Genomics and Human Genetics, and the MADGC study. To sign on for research, she needed at least one other family member with an autoimmune disease.

At the 2007 family reunion, Ms. Folley moved from one branch of the family to the next. She had a list of autoimmune diseases in hand and asked people about their personal ailments. "When I started tallying up all of the autoimmune diseases in my family I was stunned," said Ms. Folley. Her career as a statistician paid off, and she developed a family tree with autoimmune diseases in virtually every branch of the family. And it seemed to be especially endemic in her generation of cousins.

When she called MADGC study coordinator Gila Klein, Ms. Folley explained what she had uncovered at her family reunion. She even emailed her the family tree, beginning with her grandmother's generation. Mattie Majors, the matriarch of the family, had Crohn's, rheumatoid arthritis and psoriasis. She died in her early 50s, when Ms. Folley's mother Iris was just 13. Her grandmother's siblings succumbed to stomach and colon cancers.

Ms. Folley's eagerness to understand the genetic legacy in her family led her to contact members of her extended family and ask them to participate in the MADGC study. When Feinstein researchers heard about their family reunion, they asked for an official invite. They would bring the consent forms, the needles and tubes and anyone who was interested in donating their DNA could participate. This wasn't the first time that they would crash parties in the line of research. They have great wedding stories!

Ms. Demers and Ms. Sadiq were set to arrive at the reunion on the night of July 12th - with plenty of time to set up and start the blood draws. But Arkansas is not a direct route and with plane service what it is they ended up stuck in Chicago with no hopes of air travel to Arkansas that night. After a 10-hour wait, they scored two lone seats on separate flights. Ms. Demers made her way by detour through Texas and Ms. Sadiq had a direct flight to Little Rock. They finally met in Arkansas at 12:30 in the morning and rented a car for a three-hour drive through unlit roads spotted with cow farms. They spent the better part of an hour behind a chicken truck with feathers plastered against their windshield.

After a few hours of much-needed sleep, they got up early in the morning to set up for the study. They brought along a six-foot family tree that brought a flood of people into the room to find themselves or their loved ones on the medical map. They collected a few teaspoons of blood from 24 relatives with a promise of six more who could not make it to the reunion. Scientists at the Feinstein Institute will do a whole genome association study on each blood sample and also look in the serum for antibodies associated with a variety of autoimmune diseases. The research subjects will not be receiving personal genetic information generated from this study.

"I have a lot of family members with kids and they have kids and those kids may eventually benefit from what these scientists discover about our family genetics," said Ms. Folley. "It is important for us to help in any way we can."

Her cousin, Amanda Saar, agrees. Her mother is Elizabeth Majors, who grew up in the small town of Mount Magazine. Ms. Majors, now 83, met her husband when they were in grade school. They were 20 years old when they married in 1945. Amanda was born a year later, followed the next year by her brother and 12 years later by a sister. Ms. Majors had eight siblings and Amanda's father was an only child. There were 21 cousins born to the Major siblings. Amanda is now 62, almost two decades older than her cousin Mary. Elizabeth's grandmother was Mattie Majors. Amanda said that there is also a lot of deafness in the family, as well as asthma and thyroid disease. Her mother Elizabeth suffers from rheumatoid arthritis and had Graves' disease as a teenager. "It's interesting to see how all of these conditions show up in our family. We hope it helps scientists figure out what genes are involved." And the research has led her to notice other characteristics that run in her family, such as "long, strange toes that seem to be associated to rheumatoid arthritis."

In late August, Ms. Demers and Ms. Sadiq were on their way to Medina, Ohio where three generations were meeting to celebrate a birthday. The Feinstein duo arrived with a birthday cake for the grandmother, flowers, and their supplies to draw blood to collect DNA. At the end of the day, they left with 17 individual samples and 11 of these family members had an autoimmune disease.

If you have a family history of autoimmune disease and would like more information about participating in MADGC, call 1-877-698-9467 or email madgc @ nshs.edu.

Contact: Jamie Talan, science writer-in-residence

516-562-1232 (w) or 631-682-8781 (c)

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