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James 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 he 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. They come in four main pairs of shapes, as given in the box to the right, which also gives their names, that vary between British English, British and American English. "Brackets", without further qualification, are in British English the ... marks and in American English the ... marks. Other symbols are repurposed as brackets in specialist contexts, such as International Phonetic Alphabet#Brackets and transcription delimiters, those used by linguists. Brackets are typically deployed in symmetric pairs, and 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. In casual writing and in technical fields such as computing or linguistic analysis of grammar, brackets ne ... [...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 the 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 ... [...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 three main types: "reciprocal", "nonreciprocal" 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. Each type of chromosomal translocation can result in disorders for growth, function and the development of an individuals body, often resulting from a change in their genome. 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 bala ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Mutation
A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected individual but absent from both biological parents' genomes. A de novo mutation can arise in a sperm or egg cell and become a germline mutation, or after fertilization as a post-zygotic mutation that cannot be inherited by offspring. These mutations can occur in any cell of the offspring, but those in the germ line (eggs or sperm) can be passed on to the next generation. In most cases, such a mutation has little or no effect on the affected organism due to the redundancy and robustness of the genetic code. However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cynthia C
Cynthia is a feminine given name of Greek origin: , , "from Mount Cynthus" on the island of Delos. The name has been in use in the Anglosphere since the 17th century. There are various spellings for this name, and it can be abbreviated to Cindy, Cyndi, Cyndy, Cinny, or occasionally to Thea, Tia, or Thia. Cynthia was originally an epithet of the Greek goddess Artemis, who according to legend was born on Mount Cynthus on Delos. Selene, the Greek personification of the moon, and the Roman Diana were also sometimes called "Cynthia". In Ancient Roman literature 'Cynthia' is the name of Propertius' love. 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alzheimer's Disease
Alzheimer's disease (AD) is a neurodegenerative disease and the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems with language, disorientation (including easily getting lost), mood swings, loss of motivation, self-neglect, and 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 average life expectancy following diagnosis is three to twelve years. The causes of Alzheimer's disease remain poorly understood. There are many environmental and genetic risk factors associated with its development. The strongest genetic risk factor is from an allele of apolipoprotein E. Other risk factors include a history of head injury, clinical depression, and high blood pressure. The progression of the di ... [...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). 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 form and movement of cells. The principal treatment ... [...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] |
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] |
Restriction Fragment Length Polymorphisms
In molecular biology, restriction fragment length polymorphism (RFLP) is a technique that exploits variations in homologous DNA sequences, known as polymorphisms, populations, or species or to pinpoint the locations of genes within a sequence. The term may refer to a polymorphism itself, as detected through the differing locations of restriction enzyme sites, or to a related laboratory technique by which such differences can be illustrated. In RFLP analysis, a DNA sample is digested into fragments by one or more restriction enzymes, and the resulting ''restriction fragments'' are then separated by gel electrophoresis according to their size. RFLP analysis is now largely obsolete due to the emergence of inexpensive DNA sequencing technologies, but it was the first DNA profiling technique inexpensive enough to see widespread application. RFLP analysis was an important early tool in genome mapping, localization of genes for genetic disorders, determination of risk for disease, and ... [...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 li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mass General Research Institute
Massachusetts General Hospital (Mass General or MGH) is a teaching hospital located in the West End neighborhood of Boston, Massachusetts. It is the original and largest clinical education and research facility of Harvard Medical School/Harvard University, and houses the world's largest hospital-based research program with an annual research budget of more than $1.2 billion in 2021. It is the third-oldest general hospital in the United States with a patient capacity of 999 beds. Along with Brigham and Women's Hospital, Mass General is a founding member of Mass General Brigham, formerly known as Partners HealthCare, the largest healthcare provider in Massachusetts. History Founded in 1811, the original hospital was designed by the famous American architect Charles Bulfinch. It is the third-oldest general hospital in the United States; only Pennsylvania Hospital (1751) and NewYork-Presbyterian Hospital's predecessor New York Hospital (1771) are older. John Warren, Professor of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
