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James F. Gusella
James Francis Gusella (born 1952 in Ottawa) is a Canadian molecular biologist and geneticist known for his work on Huntington's disease and other neurodegenerative diseases in humans. He is the Bullard Professor of Neurogenetics in the Department of Genetics at Harvard Medical School and an investigator at the Center for Genomic Medicine at the Mass General Research Institute. Early life and education Gusella was born in Ottawa, Canada. He received his Bachelor of Science degree in biology from the University of Ottawa in 1974, and his Ph.D. in biology from the Massachusetts Institute of Technology in 1980. As a doctoral student of David Housman, Gusella developed linkage analysis techniques using restriction fragment length polymorphisms (RFLPs) to identify human disease genes. Career Gusella joined the faculty of Harvard Medical School in 1980, where began collaborating with Nancy Wexler to study the genetic basis of Huntington's disease. Through linkage analysis of a large V ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brackets
A bracket is either of two tall fore- or back-facing punctuation marks commonly used to isolate a segment of text or data from its surroundings. Typically deployed in symmetric pairs, an individual bracket may be identified as a 'left' or 'right' bracket or, alternatively, an "opening bracket" or "closing bracket", respectively, depending on the Writing system#Directionality, directionality of the context. Specific forms of the mark include parentheses (also called "rounded brackets"), square brackets, curly brackets (also called 'braces'), and angle brackets (also called 'chevrons'), as well as various less common pairs of symbols. As well as signifying the overall class of punctuation, the word "bracket" is commonly used to refer to a specific form of bracket, which varies from region to region. In most English-speaking countries, an unqualified word "bracket" refers to the parenthesis (round bracket); in the United States, the square bracket. Glossary of mathematical sym ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
David Housman
David E. Housman is an American geneticist. He is the Virginia and D.K. Ludwig Professor for Cancer Research in the Koch Institute for Integrative Cancer Research at Massachusetts Institute of Technology. He is known for his contribution to the discovery of the HTT gene that causes Huntington's disease. Early life David Housman was born on July 30, 1946. As a child he was a control in the original Salk polio vaccine trials in New York, an early experience that left him interested in how clinical trials could be more efficiently conducted. Academic career Housman received his BA in 1966 and MA in 1971 from Brandeis University. As one of the first postdocs in the lab of Harvey Lodish at MIT, Housman showed that all mammalian proteins begin with a methionine residue transferred from a specific met-initiator tRNA. Between 1973 and 1975 he taught at the University of Toronto and was on the staff of the Ontario Cancer Institute. He joined the MIT faculty in 1975. In his lab at MIT ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomal Translocation
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal-, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously. A gene fusion may be created when the translocation joins two otherwise-separated genes. It is detected on cytogenetics or a karyotype of affected cells. Translocations can be balanced (in an even exchange of material with no genetic information extra or missing, and ideally full functionality) or unbalanced (where the exchange of chromosome material is unequal resulting in extra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Mutation
A de novo mutation is any mutation/alteration in the genome of any organism (humans, animals, plant, microbes, etc.) that wasn't present or transmitted by their parents. This type of mutation (like any other) occurs spontaneously during the process of DNA replication during cell division in a fetus whose close, biological relatives don't have the mutation. Often, these kind of mutations have very little to no effect on the affected organism, but in rare cases they have a notable and/or serious effect on overall health, physical appearance, etc. Rate The average number of spontaneous mutations (not present in the parents) an infant has in its genome is approximately 43.86 DNMs. A study done in September of 2019 by the University of Utah Health revealed that certain families have a higher spontaneous mutation rate than average, meaning that their newborns had more spontaneous mutations (not present in their parents) than the average newborn, this tendency was found to be hereditar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cynthia C
Cynthia is a feminine given name of Greek origin: , , "from Mount Cynthus" on Delos island. The name has been in use in the Anglosphere since the 1600s. There are various spellings for this name, and it can be abbreviated to Cindy, Cyndi, Cyndy, or occasionally to Thea or Thia. Cynthia was originally an epithet of the Greek goddess Artemis, who according to legend was born on Mount Cynthus. Selene, the Greek personification of the moon, and the Roman Diana were also sometimes called "Cynthia". Usage It has ranked among the 1,000 most used names for girls in the United States since 1880 and among the top 100 names between 1945 and 1993. It peaked in usage between 1956 and 1963, when it was among the 10 most popular names for American girls. It has since declined in use in the United States and ranked in 806th position on the popularity chart there in 2021. It was also among the top 100 names in use for girls in Canada between 1949 and 1978, among the top 100 names in use for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alzheimer's Disease
Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term memory, remembering recent events. As the disease advances, symptoms can include primary progressive aphasia, problems with language, Orientation (mental), disorientation (including easily getting lost), mood swings, loss of motivation, self-neglect, and challenging behaviour, behavioral issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the typical life expectancy following diagnosis is three to nine years. The cause of Alzheimer's disease is poorly understood. There are many environmental and genetic risk factors associated with its development. The strongest genetic risk factor is from an alle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis Type 2
Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular schwannomas, meningiomas, and ependymomas. The main manifestation of the condition is the development of bilateral benign brain tumors in the nerve sheath of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Besides, other benign brain and spinal tumors occur. Symptoms depend on the presence, localisation and growth of the tumor(s), in which multiple cranial nerves can be involved. Many people with this condition also experience vision problems. Neurofibromatosis type II (NF2 ''or'' NF II) is caused by mutations of the "Merlin" gene, which seems to influence the fo ... [...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. 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 polymorphisms of the gene can lead to variable numbers of glutamine residues present in the protein. In its wild-type (normal form), it contains 6-35 glutamine residues. However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), it 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 around 350 kDa. Normal huntingtin is generally accepted to be 3144 am ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 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 a Huntington's patient, 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 having Huntington's disease. The samples her team collected were instrumental in allowing a global collaborative research group to locate the gene that causes the disease. Wexler participated in the successful effort to create a chromosomal test to identify carriers of Hun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Linkage Analysis
Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be more ''linked'' than markers that are far apart. In other words, the nearer two genes are on a chromosome, the lower the chance of recombination between them, and the more likely they are to be inherited together. Markers on different chromosomes are perfectly ''unlinked'', although the penetrance of potentially deleterious alleles may be influenced by the presence of other alleles, and these other alleles may be located on other chromosomes than that on which a particular potentially deleterious allele is located. Genetic linkage is the most prominent exception to Gregor Mendel's Law of Independent Assortment. The first experiment to demonstrate l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mass General Research Institute
Massachusetts General Hospital (Mass General or MGH) is the original and largest teaching hospital of Harvard Medical School located in the West End neighborhood of Boston, Massachusetts. It is the third oldest general hospital in the United States and has a capacity of 999 beds. With Brigham and Women's Hospital, it is one of the two founding members of Mass General Brigham (formerly known as Partners HealthCare), the largest healthcare provider in Massachusetts. Massachusetts General Hospital houses the largest hospital-based research program in the world, the Mass General Research Institute, with an annual research budget of more than $1 billion in 2019. It is currently ranked as the #8 best hospital in the United States by '' U.S. News & World Report''. In , ''The Boston Globe'' ranked MGH the fifth best place to work out of Massachusetts companies with over 1,000 employees. History Founded in 1811, the original hospital was designed by the famous American architect Charle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
