|
Hereditary Disease Foundation
The Hereditary Disease Foundation (HDF) aims to cure genetic disorders, notably Huntington's disease, by supporting basic biomedical research. History In 1968, after experiencing Huntington's disease (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 and 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 a gene was found, and in the next decade, with further HDF involvement, the exact gene (Huntingtin) was found. Many techniques developed in finding the Huntingtin gene were used to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huntington's Disease
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly Genetic disorder#Autosomal dominant, inherited. It typically presents as a triad of progressive psychiatric, cognitive, and motor symptoms. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities, which precede the motor symptoms for many people. The definitive physical symptoms, including a general Ataxia, lack of coordination and an unsteady human gait, gait, eventually follow. Over time, the basal ganglia region of the brain gradually Basal ganglia disease#Huntington's disease, becomes damaged. The disease is primarily characterized by a distinctive hyperkinesia, hyperkinetic movement disorder known as ''chorea.'' Chorea classically presents as uncoordinated, involuntary, "dance-like" body movements that become more apparent as the disease advances. Physical abilities gradually worsen until Motor coordination, coordinated mo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biomedical Research
Medical research (or biomedical research), also known as health research, refers to the process of using scientific methods with the aim to produce knowledge about human diseases, the prevention and treatment of illness, and the promotion of health. Medical research encompasses a wide array of research, extending from " basic research" (also called ''bench science'' or ''bench research''), – involving fundamental scientific principles that may apply to a ''preclinical'' understanding – to clinical research, which involves studies of people who may be subjects in clinical trials. Within this spectrum is applied research, or translational research, conducted to expand knowledge in the field of medicine. Both clinical and preclinical research phases exist in the pharmaceutical industry's drug development pipelines, where the clinical phase is denoted by the term ''clinical trial''. However, only part of the clinical or preclinical research is oriented towards a specific ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nancy Wexler
Nancy Wexler (born 19 July 1945) FRCP MEASA 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 The Columbia University College of Physicians and Surgeons (officially known as Columbia University Roy and Diana Vagelos College of Physicians and Surgeons) is the medical school of Columbia University, located at the Columbia University Irvin ..., best known for her involvement in the discovery of the location of the gene that causes Huntington's disease. She earned a Ph.D. in clinical psychology but instead chose to work in the field of genetics. The daughter of someone exhibiting Huntington's, she led a research team into a remote part of Venezuela where the disease is prevalent. She visited the villages of Laguneta, San Luis, and Barranquitas. She obtained samples of DNA (deoxyribonucleic acid) from a large family with a majority of the members havi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Milton Wexler
Milton Wexler (August 24, 1908 – March 16, 2007) was a Los Angeles psychoanalyst who was responsible for the creation of the Hereditary Disease Foundation. Early life He was born in San Francisco and moved to New York, where he spent his remaining childhood years. He studied first at Syracuse University and then earned a law degree from New York University. Initially, he worked as a lawyer but became interested in psychology. In 1939 he began a PhD at Columbia University where his supervisor was Theodor Reik, a disciple of Sigmund Freud. After graduation he became one of the first non-physicians in the United States to practice as a psychoanalyst. Wexler married Leonore Sabin (1913 – May 14, 1978) another Columbia University graduate (Master's in Zoology, 1936). They met in the mid 1930s while he was working as a lawyer and she as a teacher. Together they had two daughters – Nancy and Alice. Wexler served in the US Navy during the Second World War. In 1946 he worked at th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 mission of NINDS is "to reduce the burden of neurological disease—a burden borne by every age group, every segment of society, and people all over the world". NINDS has established two major branches for research: an extramural branch that funds studies outside the NIH, and an intramural branch that funds research inside the NIH. Most of NINDS' budget goes to fund extramural research. NINDS' basic science research focuses on studies of the fundamental biology of the brain and nervous system, genetics, neurodegeneration, learning and memory, motor control, brain repair, and synapses. NINDS also funds clinical research related to diseases and disorders of the brain and nervous system, e.g. AIDS, Alzheimer's disease, epilepsy, muscular dyst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huntingtin
Huntingtin (Htt) is the protein coded for in humans by the ''HTT'' gene, also known as the ''IT15'' ("interesting transcript 15") gene. Mutation, Mutated ''HTT'' is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage. It is variable in its structure, as the many Polymorphism (biology), polymorphisms of the gene can lead to variable numbers of glutamine residues present in the protein. In its wild-type (normal) form, the polymorphic locus contains 6-35 glutamine residues. However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), the polymorphic locus contains more than 36 glutamine residues (highest reported repeat length is about 250). Its commonly used name is derived from this disease; previously, the ''IT15'' label was commonly used. The mass of huntingtin protein is dependent largely on the number of glutamine residues it has; the predicted mass is aro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 physical and a functional standpoint. It started in 1990 and was completed in 2003. It was the world's largest collaborative biological project. Planning for the project began in 1984 by the US government, and it officially launched in 1990. It was declared complete on 14 April 2003, and included about 92% of the genome. Level "complete genome" was achieved in May 2021, with only 0.3% of the bases covered by potential issues. The final gapless assembly was finished in January 2022. Funding came from the US government through the National Institutes of Health (NIH) as well as numerous other groups from around the world. A parallel project was conducted outside the government by the Celera Corporation, or Celera Genomics, which was formall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
