MGH Research Scholar Susan A. Slaugenhaupt, PhD, is investigating genetics and therapeutics for rare neurological diseases such as familial dysautonomia.

Genetics and Therapeutics for Rare Disease

Susan A. Slaugenhaupt, PhD
Susan A. Slaugenhaupt, PhD
Elizabeth G. Riley and Daniel E. Smith Jr. MGH Research Scholar 2013-2018
Elizabeth G. Riley and Daniel E. Smith, Jr. Endowed MGH Research Institute Chair
Scientific Director, Mass General Research Institute
Investigator, Center for Genomic Medicine
Professor of Neurology, Harvard Medical School

Dr. Slaugenhaupt’s research focuses on understanding the genetic basis of human disease and translating discoveries into therapies and improved clinical care for patients. Specifically, she is investigating two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), and the common cardiac disorder mitral valve prolapse (MVP).

The discoveries in Dr. Slaugenhaupt’s laboratory have led to the successful implementation of population screening for FD and MLIV. Their more recent discovery of a drug that modifies mRNA splicing has led to a clinical trial of the first therapeutic for FD that directly targets the molecular defect. They have also successfully developed a potential treatment for a genetic disease that directly targets the mRNA splicing mechanism.

Her lab’s next step is to build on this work with mRNA splicing and its role in human genetic disease. Given the frequency of splicing mutations, a genome-wide assessment of known mutations combined with small molecule screening for modulators of mRNA splicing will allow the development of a panel of drugs that can shift the ratio of mRNA isoforms as a means of treating human genetic disease.

Dr. Slaugenhaupt is the Scientific Director of the Mass General Research Institute, a strategic initiative that supports the entire research enterprise at Mass General to foster and sustain medical innovation.

Her team works to promote science at Mass General by increasing interactions with industry, by fundraising for Research Institute initiatives through partnerships with philanthropists and foundations and by promoting Mass General research to the community through events and social media.