Hereditary Disease Foundation
Encyclopedia
The Hereditary Disease Foundation (HDF) aims to cure genetic disorder
s by supporting basic biomedical research
.
(HD) in his wife's family, Dr. Milton Wexler was inspired to start the Hereditary Disease Foundation, with the aim of curing genetic illnesses by coordinating 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 NINDS and Dr. Wexler's daughter, Nancy Wexler
, 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 gene was found, and in the next decade, with further HDF involvement the exact gene (Huntingtin
) was found. A lot of techniques developed in finding the Huntingtin gene were used to advance the Human Genome Project
. The Huntingtin gene was also one of the first disease genes to be found, its discovery and debates raised have provided the framework for genetic testing, counselling and possible therapies for other genetic diseases that can be genetically tested.
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
s by supporting basic biomedical research
Biomedical research
Biomedical research , in general simply known as medical research, is the basic research, applied research, or translational research conducted to aid and support the body of knowledge in the field of medicine...
.
History
In 1968, after experiencing Huntington's diseaseHuntington's disease
Huntington's disease, chorea, or disorder , is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea...
(HD) in his wife's family, Dr. Milton Wexler was inspired to start the Hereditary Disease Foundation, with the aim of curing genetic illnesses by coordinating 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 NINDS and Dr. Wexler's daughter, Nancy Wexler
Nancy Wexler
Nancy Wexler FRCP is a geneticist and the Higgins Professor of Neuropsychology at Columbia University, best known for her discovery of the location of the gene that causes Huntington's disease . Despite having an AB and PhD in clinical psychology, Wexler instead chose to work in genetics...
, 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 gene was found, and in the next decade, with further HDF involvement the exact gene (Huntingtin
Huntingtin
The Huntingtin gene, also called HTT or HD gene, is the IT15 gene which codes for a protein called the huntingtin protein...
) was found. A lot of techniques developed in finding the Huntingtin gene were used to advance the Human Genome Project
Human Genome Project
The Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...
. The Huntingtin gene was also one of the first disease genes to be found, its discovery and debates raised have provided the framework for genetic testing, counselling and possible therapies for other genetic diseases that can be genetically tested.