Jewish World Review March 15, 2001 / 20 Adar, 5761

New research may allow carrier screening for Familial Dysautonomia

By Paula Amann
Washington Jewish Week -- AT age six, Justin Sachs has a smile that wins the hearts of strangers, but he faces challenges his peers never will.

"My son cannot run; he cannot jump," said his father, Adam, in a phone interview. "Cognitively, he's on age level. He's incredibly loving."

Up until recently, the Brookeville, Md., first-grader could not eat normally, receiving his nutrition through a tube. Words came late, at age 5, and Justin uses an augmentative speech tool.

"Now we can't shut him up, which is wonderful," said Sachs, who works, appropriately, in the biotechnology field. "We always prayed for the day we could say that."

Justin has familial dysautonomia (FD), a rare and serious genetic disorder found among Ashkenazi Jews. The illness, once known as Riley-Day syndrome, stunts the development of autonomic nerves.

Early symptoms include difficulty breathing, crying without tears and trouble swallowing, as well as wide swings in body temperature and blood pressure. Half of those affected die by the age of 30.

Recently, research teams at Massachusetts General Hospital (MGH) and Fordham University pinpointed the gene that causes FD. Their simultaneous discovery could change the future for Justin and hundreds like him in the United States, Israel and other Jewish population centers.

"This is a tremendous breakthrough," said Lenore Roseman, executive director of the Dysautonomia Foundation in New York. "Up until now, the only people who could be tested were those who had had or had lost a child with FD."

Testing takes place at the foundation-supported Dysautonomia Treatment and Evaluation Center at New York University Medical Center or by special arrangement for those living outside of the New York area.

Identification of the FD gene will allow public health officials to develop a test for carriers, like that used for Tay-Sachs, another hereditary illness found among Jews. Roughly one in 30 Ashkenazi Jews are thought to carry the FD trait.

"We will be ready very shortly to announce screening for the entire Ashkenazic Jewish population," said Roseman.

Scientific articles on FD by Drs. Susan A. Slaugenhaupt, James F. Gusella and the MGH team, and by Dr. Sylvia L. Anderson and other Fordham researchers appears in the March issue of the American Journal of Human Genetics.

"The gene was difficult to find because it was not in the blueprint area of DNA," said Michael Brownstein, chief of the Laboratory of Genetics at the National Institutes of Mental Health and the National Human Genome Research Institute. He is listed as a contibutor to the upcoming MGH journal article.

Human genes consist of deoxyribonucleic acid (DNA), a complex molecule in the form of a twisted ladder or double helix. The "sides" of the ladder are built of sugars and phosphates; the rungs are built of paired nitrogenous bases, whose arrangement serves as a biological code for the construction of proteins throughout the body.

Genes, in turn, occur as part of rod-shaped chromosomes.

Scientists in Brownstein's laboratory helped the MGH team decode the sequence of bases for the portion of the chromosome thought responsible for FD.

"We 'read' rung to rung a ladder 300,000 rungs long," said Brownstein.

Researchers then had to locate the site of the mutation, or abnormality in the base sequence, linked with FD. It cropped up, as Brownstein indicated, in an unusual place, a portion of "junk DNA" that normally does not contain useful information.

A missing base sequence there results in a truncated protein, which sets off a yet-to-be understood biological chain reaction that leads to the life-threatening symptoms of FD.

Brownstein foresees further studies to determine how the deleted gene affects human cells.

"If we understand what gets messed up, we'll know how to get around it," he said, putting the biochemistry into lay terms. In other words, an understanding of how the mutation wreaks its havoc could point the way toward therapy or even a cure.

And that's why the intricacies of genetic research mean so much for FD families.

"With a gene there's potential treatment," said Sachs. "And with potential treatment, there's a better life."

He and his wife, Stacey, a medical illustrator, have become parent activists as a result of their experience.

Adam Sachs serves on the board of the Dysautonomia Foundation, which helped fund the MGH research. In this role, he hopes to help other couples avoid the heartache he and his wife have faced.

"I can't tell you how many times we've spoken to Jewish doctors, rabbis and officials who have never heard of FD," said Adam Sachs. "We need to raise awareness that it is a progressive and devastating disorder."

Further information is available from the Dysautonomia Foundation at 212-949-6644, or In April, the foundation will be offering free screening for at-risk relatives with "mail-in" arrangements available for out-of-towners at Mt. Sinai Hospital and New York University.

Paula Amann is News Editor of the Washington Jewish Week. Comment by clicking here.


© 2001, WJW