An MGH Breakthrough: Why Research on Rare Disease Matters

Massachusetts General

Imagine not being able to feel pain or cold, not being able to swallow and needing an oxygen tank to fly in a plane. Imagine crying without producing tears. Children who have a rare disease called Familial Dysautonomia (FD) experience all of these symptoms, in addition to severe nausea, gastrointestinal issues and a host of other developmental delays. Susan Slaugenhaupt, PhD, of Massachusetts General Hospital, has devoted her life’s work to researching this rare disease.  She has made a brilliant discovery that is paving the way for a treatment that will one day allow these children to swallow, feel pain and cry – acts that we all take for granted.

FD is a hereditary disease of the autonomic nervous system. It primarily affects children. Most sufferers do not live past the age of 30. FD is a very rare disease. Less than 1,000 cases have been recorded to date in the entire world. However, it is much more common in the Jewish community, where one in 27 people of Eastern European Jewish ancestry have FD.

Patients and Families Drive Research

For the past 22 years, Dr. Slaugenhaupt has been studying FD in her laboratory at the MGH Center for Human Genetic Research (CHGR). Her compassion for the patients has motivated her since the beginning. “My initial involvement in FD research was serendipity,” explains Dr. Slaugenhaupt. As a post-doctoral fellow, she was investigating human chromosome 9, when her mentor, James Gusella, PhD, discovered the chromosome was linked to the FD gene. She visited with families whose children had FD to discuss working with them. “I was hooked,” says Dr. Slaugenhaupt. “The suffering that these kids endure is unimaginable.”

In recent years, Dr. Slaugenhaupt and her team have come closer and closer to deciphering FD. In 2000, she discovered the genetic mutation that causes FD and showed that the disease is caused by a reduction in the IKAP protein. Several years later, she discovered a molecule that helps to increase IKAP in the bloodstream, which may help stop the progression of FD. Her laboratory is currently working with the National Institutes of Health (NIH) to optimize this molecule in order to develop a new drug therapy for the disease.

Dr. Slaugenhaupt is an advocate for rare disease research. “There are over 7,000 rare diseases,” she says. “If you look at rare diseases in total, there are more than 30 million Americans affected, or 1 in 10 people.” Furthermore, research on rare diseases often leads to important discoveries that can be applied to common diseases because many of the genetic and cellular pathways are similar. For example, understanding how having FD alters the nervous system will help researchers to better understand how humans feel pain.

A New Therapy on the Horizon

Today, Dr. Slaugenhaupt is collaborating with the NIH and the FD Foundation to optimize the drug that she and her team created. It is showing promise of improving symptoms, though more work needs to be done to ensure that the drug delivers the correct dosage for patients with this rare disease. Dr. Slaugenhaupt estimates that within three to four years, a viable and effective drug for FD will be on the market. “It’s satisfying to know that all of our hard work from the past two decades is paying off,” she says. “There is hope for families of children with FD.”

Dr. Slaugenhaupt was a featured speaker at the MGH Fund Annual Lecture in September 2013. The MGH Fund is proud to support her work, and Mass General is honored to be the home of the largest hospital-based research program in the country.

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