Huntington’s disease: nearly four decades of human molecular genetics-Reference-Cited by-同舟云学术

Huntington’s disease: nearly four decades of human molecular genetics

Published:2021-06-24 Issue:R2 Volume:30 Page:R254-R263
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Gusella James F¹²³^ORCID,Lee Jong-Min¹²⁴,MacDonald Marcy E¹²⁴

Affiliation:

1. Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA

2. Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA

3. Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA

4. Department of Neurology, Harvard Medical School, Boston, MA 02115, USA

Abstract

Abstract 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.

Funder

National Institutes of Health

CHDI Foundation

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddab170/39072784/ddab170.pdf

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