James Gusella, PhD, Jong-Min Lee, PhD, Marcy E. MacDonald, PhD
Huntington’s disease: nearly four decades of human molecular genetics.

Hum Mol Genet. 2021 Oct 1;30(R2):R254-R263. doi: 10.1093/hmg/ddab170. PMID: 34169318; PMCID: PMC8490011.

Huntington’s disease (HD) is a devastating neurogenetic disorder whose familial nature and progressive course were first described in the 19th century but for which no disease-modifying treatment is yet available. Through the active participation of HD families, this disorder has acted as a flagship for the application of human molecular genetic strategies to identify disease genes, understand pathogenesis and identify rational targets for development of therapies.

 ddab170.pdf

Amit V. Khera

Dr. Khera is a physician-scientist with expertise in epidemiology, clinical medicine, and human genetics. Among his scientific contributions, he pioneered a new approach to quantify genetic risk for common diseases, […]

Read More…

Roy H. Perlis

Dr. Perlis is a graduate of Brown University, Harvard Medical School, and the Harvard School of Public Health. He serves as co-PI of an NIMH/NHGRI-supported Center of Excellence in Genomic […]

Read More…

Jordan W. Smoller

Dr. Smoller is Professor of Psychiatry at HMS, and Professor in Epidemiology at the Harvard T.H. Chan School of Public Health. At MGH, he is the Trustees Endowed Chair in Psychiatric […]

Read More…

Susan A. Slaugenhaupt

My research focuses on two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), as well as the common cardiac disorder mitral valve prolapse (MVP).   Our work is focused […]

Read More…

Jeremiah Scharf

Dr. Scharf is a behavioral neurologist and human geneticist whose lab uses genetic and clinical research tools to identify the underlying cause(s) and pathogenesis of Tourette Syndrome (TS) and related […]

Read More…

Richa Saxena

Richa Saxena, a human geneticist, uses genetics to understand the biological basis of people’s daily behavioral rhythms and sleep patterns, and to illuminate meaningful links of sleep and circadian rhythms […]

Read More…

Christopher Newton-Cheh

Chris Newton-Cheh is a heart failure cardiologist and human geneticist.  The Newton-Cheh lab studies the genetic basis of cardiovascular traits and disease, follows up genetic leads to identify previously unsuspected […]

Read More…

Patricia Musolino

Dr. Musolino is a clinician-scientist devoted to caring for patients of all ages with devastating brain injury such as stroke and demyelination. Her research revolves around the translation of discoveries […]

Read More…