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

James F Gusella; Jong-Min Lee; Marcy E MacDonald

doi:10.1093/hmg/ddab170

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.

Authors

James F Gusella^{1

2

3}, Jong-Min Lee^{1

2

4}, Marcy E MacDonald^{1

2

4}

Affiliations

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

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Alleles
Animals
Biomarkers
Disease Management
Disease Susceptibility*
Genetic Association Studies
Genetic Linkage
Genetic Predisposition to Disease
Humans
Huntington Disease / diagnosis
Huntington Disease / etiology*
Huntington Disease / therapy
Models, Biological

Substances

Biomarkers

Abstract

Publication types

MeSH terms

Substances

Grants and funding