Professor of Neurology,
Harvard Medical School

Associate Geneticist,
Department of Neurology,
Molecular Neurogenetics Unit
Center for Human Genetic Research
Massachusetts General Hospital


Sue Slaugenhaupt received her Ph.D. in Human Genetics from the University of Pittsburgh in Pittsburgh, PA, USA. She is a Professor of Neurology in the Center for Human Genetic Research at Massachusetts General Hospital and Harvard Medical School. Her research interests include the discovery and characterization of human disease genes and the role of mRNA splicing in human disease. Dr. Slaugenhaupt's current work focuses on two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), as well as the common cardiac disorder mitral valve prolapse (MVP). Discoveries in Sue's laboratory have led to the successful implementation of critical population screening for FD and MLIV, in addition to a clinical trial of the first therapeutic for FD that directly targets the molecular defect. Sue and her team have further developed a potential treatment for a genetic disease that directly targets the mRNA splicing mechanism. Given the frequency of splicing mutations, a genome-wide assessment of known mutations will ultimately allow for the development of a panel of drugs that can shift the ratio of mRNA isoforms as a means of treating human genetic disease.

In 2001, Dr. Slaugenhaupt and her group discovered that mutations in the IKBKAP gene were responsible for familial dysautonomia, an autosomal recessive hereditary sensory and autonomic neuropathy common in the Ashkenazi Jewish population. Discerning this groundbreaking discovery from others of the era was the identification of a major mutation present in all affected individuals, resulting in tissue-specific aberrant splicing of mRNA. Her group's further discovery that kinetin, a plant cytokinin, can improve IKBKAP splicing and increase the amount of normal IKAP in cells has led to the first potential therapy for this devastating disease. Her work has shown that oral ingestion of a small molecule can target mRNA splicing in peripheral blood in humans, and in the brain of mice, findings which will potentially have a major impact on treating genetic disease. This work has since suggested that drugs which target specific molecular mutations - rather than specific diseases - will prove efficacious in treating a variety of disorders in which mutations alter mRNA splicing. Importantly, her demonstration that kinetin can also 'cure' mis-splicing in neurofibromatosis type I has been supported in recent literature, setting the stage for future genomic studies of mis-splicing signatures. Understanding mRNA splicing signatures and identifying modulators of splicing is vital in the goal to understand and manipulate our genome. Furthermore, Dr. Slaugenhaupt and her team also plan to initiate the first clinical trial of kinetin in FD patients aimed at determining whether or not increasing the amount of functional IKAP protein can stop the progressive neurodegeneration in FD patients, or perhaps even improve function. Dr. Slaugenhaupt's fastidious efforts are emblematic of the CHGR mission to focus on understanding the genetic basis of human disease, and ultimately translating discoveries into therapies and improved clinical care for patients.

In addition to her groundbreaking research, Dr. Slaugenhaupt has spearheaded several programs and initiatives within the center. In collaboration with CHGR faculty member Dr. Christopher Newton-Cheh, Dr. Slaugenhaupt administers and instructs the Harvard Medical School Biological and Biomedical Studies Course, 'Genetics in Medicine from Bench to Bedside', which is held within the Center for Human Genetic Research each semester. Dr. Slaugenhaupt also participates in the MGH Clinical Research Program Education Unit and The Harvard Catalyst, which offers Genetics and Bioinformatics Counseling via the Harvard Clinical and Translational Science Center. In total, Dr. Slaugenhaupt teaches eight genetic courses each year to the MGH and Harvard community, and is a strident contributor to the Center's goal of raising overall understanding of genetics in clinical, research, academic, and lay communities. Dr. Slaugenhaupt is the founding director of the CHGR undergraduate summer research program, which is offered to all undergraduate students within the CHGR, typically around 20 each summer. This summer student program includes presentations by CHGR Faculty regarding career options, applying to graduate/medical school, M.D. vs. Ph.D. training, and also offers several presentations by external industry representatives to discuss alternate career options. This outstanding program has successfully offered the guidance and tools for many of our future biomedical leaders to shape their long-term career plans.

Sue Slaugenhaupt, Ph.D.
Office: 617-643-3091

Contact: Bonnie Bounds
Office: 617.726.3795

Center for Human Genetic Research
Massachusetts General Hospital • Simches Research Building • 185 Cambridge Street • Boston, MA • 02114 • USA
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Photo(s) by: Jenny Moloney Photography, Inc. —