Dr. Slaugenhaupt is currently
a principal investigator in the Center for
Human Genetic Research, Associate Professor
at Harvard Medical School, and Assistant
Geneticist in the Department of Neurology/Molecular
Neurogenetics Unit at Massachusetts General
Hospital. She is also Co-Director of the
Genetics and Genomics Unit of the MGH Clinical
Research Program. Dr. Slaugenhaupt graduated
with a B.S. in Biology from Eckerd College
in St. Petersburg, FL in 1985. She obtained
an M.S. in 1988 and her Ph.D. in 1991 from
the University of Pittsburgh Graduate School
of Public Health. Her graduate work, under
the direction of Dr. Aravinda Chakravarti,
was in the field of statistical genetics
and she worked on a variety of human linkage
and gene mapping projects while at Pitt.
Dr. Slaugenhaupt joined the laboratory of
Dr. James F. Gusella as a postdoctoral research
fellow in 1991 in order to train as a molecular
geneticist. She obtained her first faculty
position at MGH in 1995 and has built a
strong research program aimed at understanding
the genetic basis of human disease.
Dr. Slaugenhaupt began working on familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy, as a research fellow in the Gusella lab in 1991. In 2000, her lab discovered the gene for FD and showed that the disease is caused by a mutation that causes faulty mRNA splicing. Their finding that patient cells retain the capability to make normal IKAP protein led to the discovery that a plant compound can increase the amount of normal protein in patient cells and work is currently underway to test this drug as a potential therapeutic agent for FD patients. Current work in the lab is focused on the characterization of the aberrant splicing mechanism and discovery of methods to correct it. Dr. Slaugenhaupt’s lab has also developed two mouse models, which will permit the study of normal IKAP function and as well as detailed investigation of tissue specific mRNA splicing.
A second project in the lab is focused on the characterization of mucolipin-1, a protein that when missing or mutated causes mucolipidosis type IV. MLIV is a devastating lysosomal storage disease with severe neurologic and ophthalmologic deficits. The MLIV gene was cloned by the Slaugenhaupt lab in 2000 in collaboration with the laboratory of Dr. Ehud Goldin at the NIH. In collaboration with Dr. Peter Vassilev at Brigham and Women’s Hospital, they have shown that this protein functions as a calcium permeable cation channel that plays a major role in calcium transport across lysosomal membranes. Her lab is currently working to determine the cellular function of the mucolipin gene family using animal models, cellular models, and gene expression and pathway analysis, with the goal of understanding MLIV pathogenesis and develop therapies.
The Slaugenhaupt lab is also working to understand the genetic basis of the common cardiac disorder mitral valve prolapse . Dr. Slaugenhaupt began working with Dr. Robert Levine in the MGH Echocardiography lab in 1997 and together they have collected numerous families segregating MVP and have identified two novel MVP loci on chromosome 11 and 13. Work is currently underway to clone the culprit genes, and new families are being enrolled in order to identify additional loci for this genetically heterogeneous disorder.
The overall goal of the Slaugenhaupt lab mirrors that of the CHGR, namely to bring the study of genetic disease full circle: from the initial collection of family data, to the cloning and characterization of the culprit gene, and back to the patient via development of improved diagnostics and effective therapies.
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