Susan Slaugenhaupt, PhD
"The Biobank will give patients the power to partner with their physicians and leading scientists to discover important new insights into complex disease that will change how we practice medicine in the future." - Susan Slaugenhaupt
Susan Slaugenhaupt received her PhD in Human Genetics from the University of Pittsburgh in Pittsburgh, PA, USA. She is a Principal Investigator in the Center for Human Genetic Research (CHGR) at Massachusetts General Hospital (MGH), Professor at Harvard Medical School and Geneticist in the Department of Neurology/Molecular Neurogenetics Unit at MGH. The overall goal of the Slaugenhaupt lab is 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. Dr. Slaugenhaupt’s work focuses on familial dysautonomia (FD), mucolipidosis type IV (MLIV), and mitral valve prolapse. With her leadership, the Slaugenhaupt lab has made tremendous advances in understanding the genetic basis of these disorders and translating these discoveries into potential therapies. Most recently, Dr. Slaugenhaupt was named the inaugural Scientific Director of the MGH Research Institute.
- 1985, BS, Biology, Eckerd College
- 1988, MS, Human Genetics, University of Pittsburgh
- 1991, PhD, Human Genetics (Aravinda Chakravarti), University of Pittsburgh
- Curcio-Morelli C, Zhang P, Venugopal B, Charles FA, Browning MF, Cantiello HF, Slaugenhaupt SA. Functional multimerization of mucolipin channel proteins. J Cell Physiol. 2010 Feb;222(2):328-35. PubMed PMID: 19885840.
- Curcio-Morelli C, Charles FA, Micsenyi MC, Cao Y, Venugopal B, Browning MF, Dobrenis K, Cotman SL, Walkley SU, Slaugenhaupt SA. Macroautophagy is defective in mucolipin-1-deficient mouse neurons. Neurobiol Dis. 2010 Nov;40(2):370-7. PubMed PMID: 20600908.
- Norris RA, Moreno-Rodriguez R, Wessels A, Merot J, Bruneval P, Chester AH, Yacoub MH, Hagège A, Slaugenhaupt SA, Aikawa E, Schott JJ, Lardeux A, Harris BS, Williams LK, Richards A, Levine RA, Markwald RR. Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis. Dev Dyn. 2010 Jul;239(7):2118-27. PubMed PMID: 20549728; PubMed Central PMCID: PMC2909582.
- Eichelsdoerfer JL, Evans JA, Slaugenhaupt SA, Cuajungco MP. Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. J. Biol. Chem. 2010. 285(45): 34304-8.
- LaPlante JM, Falardeau JL, Brown EM, Slaugenhaupt SA, Vassilev PM. The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain. Exp Cell Res. 2011. 317(6):691-705. PubMed PMID: 21256127.
- Axelrod FB, Liebes L, Gold-von Simson G, Mendoza S, Mull J, Leyne M, Norcliffe-Kaufmann L, Kaufmann H, Slaugenhaupt SA. Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res. 2011. 70(5):480-3. PubMed PMID: 21775922.
- Shetty RS, Gallagher CS, Chen YT, Hims MM, Mull J, Leyne M, Pickel J, Kwok D, Slaugenhaupt SA. Specific correction of a splice defect in brain by nutritional supplementation. Hum Mol Genet. 2011. 20(21):4093-101. PubMed PMID: 21821670.
- Lieberman AP, Puertollano R, Raben N, Slaugenhaupt SA, Walkley SU, Ballabio A. Autophagy in lysosomal storage disorders. Autophagy. 2012. 8(5):719-30. PubMed PMID: 22647656.
- de Vlaming A, Sauls K, Hajdu Z, Visconti RP, Mehesz AN, Levine RA, Slaugenhaupt SA, Hagège A, Chester AH, Markwald RR, Norris RA. Atrioventricular valve development: New perspectives on an old theme. Differentiation. 2012. 84(1):103-16. PubMed PMID: 22579502.
- Sauls K, de Vlaming A, Harris BS, Williams K, Wessels A, Levine RA, Slaugenhaupt SA, Goodwin RL, Pavone LM, Merot J, Schott JJ, Le Tourneau T, Dix T, Jesinkey S, Feng Y, Walsh C, Zhou B, Baldwin S, Markwald RR, Norris RA. Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012 Oct 1;96(1):109-19. PMID:22843703
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- 2001: Poster of Distinction, Scientific Advisory Committee Meeting, Massachusetts General Hospital
- 2001: Outstanding Research Award, Mucolipidosis IV Foundation
- 2002: Appreciation Award, Dysautonomia Foundation, Inc
- 2005: William H. Kadel Medal for Outstanding Career Achievement, Eckerd College Alumni Association
- 2013: MGH Research Scholar Award, MGH Executive Committee on Research and External Research
