The Hereditary Disease Foundation (HDF) aims to cure

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

s, notably

Huntington's disease Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unst ...

, by supporting basic

biomedical research Medical research (or biomedical research), also known as experimental medicine, encompasses a wide array of research, extending from "basic research" (also called ''bench science'' or ''bench research''), – involving fundamental scientif ...

History

In 1968, after experiencing

(HD) in his wife's family, Milton Wexler was inspired to start the Hereditary Disease Foundation, with the aim of curing genetic illnesses by co-ordinating and supporting research. At a workshop held by the HDF in 1979, participants proposed to map the human genome and find a marker for the gene which causes HD. The HDF, together with the

National Institute of Neurological Disorders and Stroke The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH). It conducts and funds research on brain and nervous system disorders and has a budget of just over US$2.03 billion. The ...

and Wexler's daughter,

Nancy Wexler Nancy Wexler (born 19 July 1945) FRCP is an American geneticist and the Higgins Professor of Neuropsychology in the Departments of Neurology and Psychiatry of the Columbia University College of Physicians and Surgeons, best known for her involve ...

, organized the US–Venezuela Huntington's Disease Collaborative Research Project. This project studied a kindred with an unusually high prevalence of HD. In 1983, a marker for a gene was found, and in the next decade, with further HDF involvement, the exact gene (

Huntingtin Huntingtin (Htt) is the protein coded for in humans by the ''HTT'' gene, also known as the ''IT15'' ("interesting transcript 15") gene. Mutated ''HTT'' is the cause of Huntington's disease (HD), and has been investigated for this role and also for ...

) was found. Many techniques developed in finding the Huntingtin gene were used to advance the

Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

. The Huntingtin gene was also one of the first disease genes to be found. Its discovery and the debates raised have provided the framework for genetic testing, counselling and possible therapies for other genetic diseases that can be genetically tested.

Presidency

Nancy Wexler is the foundation's president.Hereditary Disease Foundation
Governance

References

{{reflist Huntington's disease Medical and health foundations in the United States