Susan A. Slaugenhaupt, PhD, is exploring how her research on familial dysautonomia, a rare disease, might provide important insights about other disorders.
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Susan A. Slaugenhaupt, PhD

Susan A. Slaugenhaupt, PhD, has devoted her life’s work to understanding familial dysautonomia (FD), a rare disease that makes it difficult to feel pain, swallow and produce tears. Children with this hereditary disorder of the autonomic nervous system experience nausea, gastrointestinal issues and developmental delays. Often, they do not live beyond age 30. Fewer than 1,000 cases have been recorded worldwide, but the impact in the Jewish community is great. One in 27 people of Eastern European Jewish ancestry carry the gene for FD.

Dr. Slaugenhaupt’s compassion for patients has motivated her from the beginning. “The suffering that these kids endure is unimaginable,” she says.

Mutation Behind a Rare Disease

For the past 22 years, Dr. Slaugenhaupt has been studying FD in her laboratory at the Mass General Center for Human Genetic Research. Her work in basic research is important because it provides the building blocks for understanding this rare disease. She hopes to uncover techniques and knowledge that can be applied to research on other diseases.

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Susan A. Slaugenhaupt, PhD, studies a rare disease called familial dysautonomia (FD) in her Mass General lab.  The photo above shows the growth of human neurons from reprogrammed skin cells from an FD patient.

In 2000, she discovered the genetic mutation that causes FD, which leads to a reduction in the IKAP protein. Several years later, she discovered a molecule that helps to increase IKAP in the bloodstream and tissues, which may help stop the progression of FD. Her laboratory is now working with the National Institutes of Health to improve this molecule in order to develop a new drug therapy for the rare disease. Dr. Slaugenhaupt estimates that within three to four years, a viable and effective drug for improving the symptoms of FD will be on the market.

Applying Discoveries to Common Diseases

Dr. Slaugenhaupt was awarded a 2013 MGH Research Scholar Award to further her research. She has used the money to start new projects in her lab aimed at exploring how her work on FD might provide insights into other diseases.

Dr. Slaugenhaupt is an advocate for rare disease research. Such scientific efforts often lead to important discoveries that can be applied to common diseases.

Dr. Slaugenhaupt is an advocate for rare disease research. Such scientific efforts often lead to important discoveries that can be applied to common diseases. Understanding how having FD alters the nervous system may help researchers to better understand how humans feel pain.

She is also co-director of the Partners Biobank at MGH, which provides an opportunity for patients at MGH to partner directly with scientists to advance medical research.  The goal is to collect 100,000 blood samples that are linked to medical record data and make them available to all researchers so that they can better characterize and predict disease as well as identify targets for developing new treatments.  Many MGH employees and patients are already participants in the Biobank.  Efforts are underway to increase awareness of this important initiative.

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