Sarah Tabrizi
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Sarah Tabrizi
Sarah Joanna Tabrizi FMedSci is a British neurologist and neuroscientist in the field of neurodegeneration, particularly Huntington's disease. She is a Professor and Joint Head of the Department of Neurodegenerative Diseases at the UCL Institute of Neurology; the founder and Director of the UCL Huntington's Disease Centre; a Principal Investigator at thUK Dementia Research Instituteat UCL; and an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square, London, where she established the Multidisciplinary Huntington's Disease Clinic. The UCL Huntington’s Disease Centre was officially opened on 1 March 2017 by UCL President and Provost Professor Michael Arthur. Education and career Tabrizi graduated with a first-class degree in biochemistry from Heriot-Watt University in 1986 and an MB ChB from the University of Edinburgh in 1992, where she graduated with the Gold Medal (Ettles Scholar) for the most distinguished medical gradua ...
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Gillian Bates
Gillian Patricia Bates (born 19 May 1956) FMedSci FRS is a British biologist. She is distinguished for her research into the molecular basis of Huntington's disease and in 1998 was awarded the GlaxoSmithKline Prize as a co-discoverer of the cause of this disease. As of 2016, she is Professor of Neurogenetics at UCL Institute of Neurology and the co-director of UCL Huntington's Disease Centre. Education Bates was educated at Kenilworth Grammar School and the University of Sheffield where she graduated with a Bachelor of Science degree in 1979. She completed her postgraduate study at Birkbeck College, London where she was awarded a Master of Science degree in 1984 followed by St Mary's Hospital Medical School where she was awarded a PhD in 1987 for genetic mapping of the cystic fibrosis gene, working in the lab of Robert Williamson. Research Bates's research has focused on Huntington's disease. She was one of the group who first cloned the Huntington's disease gene. She als ...
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Journal Of Huntington's Disease
The ''Journal of Huntingtons Disease'' is a quarterly peer-reviewed scientific journal in neuroscience that covers all aspects of Huntington's disease and related disorders. It was established in 2012 and is published by IOS Press. The editors-in-chief are Blair Leavitt (University of British Columbia) and Leslie Thompson (UC Irvine). Abstracting and indexing The journal is abstracted and indexed in Chemical Abstracts Service, Emerging Sources Citation Index, Index Medicus/MEDLINE/PubMed, and Scopus Scopus is Elsevier's abstract and citation database launched in 2004. Scopus covers nearly 36,377 titles (22,794 active titles and 13,583 inactive titles) from approximately 11,678 publishers, of which 34,346 are peer-reviewed journals in top-l .... References External links * Huntington's disease English-language journals Neurology journals Academic journals established in 2012 Quarterly journals IOS Press academic journals {{neurology-journal-stub ...
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Wellcome Trust
The Wellcome Trust is a charitable foundation focused on health research based in London, in the United Kingdom. It was established in 1936 with legacies from the pharmaceutical magnate Henry Wellcome (founder of one of the predecessors of GlaxoSmithKline) to fund research to improve human and animal health. The aim of the Trust is to "support science to solve the urgent health challenges facing everyone." It had a financial endowment of Pound sterling, £29.1 billion in 2020, making it the fourth List of wealthiest charitable foundations, wealthiest charitable foundation in the world. In 2012, the Wellcome Trust was described by the ''Financial Times'' as the United Kingdom's largest provider of non-governmental funding for scientific research, and one of the largest providers in the world. According to their annual report, the Wellcome Trust spent GBP Pound sterling, £1.1Bn on charitable activities across their 2019/2020 financial year. According to the OECD, the Wellcome ...
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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 ad ...
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Royal College Of Physicians Of Edinburgh
The Royal College of Physicians of Edinburgh (RCPE) is a medical royal college in Scotland. It is one of three organisations that sets the specialty training standards for physicians in the United Kingdom. It was established by Royal charter in 1681. The college claims to have 12,000 fellows and members worldwide. History The RCPE was formed by a royal charter, granted in 1681, with Sir Robert Sibbald recognised as playing a key part in the negotiations. Three applications preceded this and had been unsuccessful. There were 21 original Fellows, eleven of whom were graduates or students of the University of Leiden. The Universities (Scotland) Act 1858 resulted in several items from the College's Charter becoming obsolete, and they obtained a further charter on 31 October 1861. In 1920 the College enacted changes that allowed women to be admitted on the same terms as men. The charter was amended on 7 May 2005. Edinburgh Pharmacopoeia In 1699 The College first published a ...
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Huntington's Disease Society Of America
The Huntington's Disease Society of America is a US non-profit organization dedicated to improving the lives of those affected by Huntington's disease, an incurable, genetically transmitted degenerative disease of the nervous system that affects movement, thinking, and some aspects of personality. The Huntington's Disease Society of America is the largest non-profit volunteer organization dedicated to improving the lives of everyone affected by Huntington's Disease. Founded in 1967 by Marjorie Guthrie, wife of folk legend Woody Guthrie who died of HD, the Society works to provide the family services, education, advocacy and research for the more than 41,000 people diagnosed with HD in the United States. HDSA supports and participates in the HD Drug Research Pipeline, which develops potential therapies to treat and eventually cure HD; and HDSA also supports 50+ HDSA Centers of Excellence at major medical facilities throughout the U.S., where people with HD and their families r ...
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Medical Research Council (United Kingdom)
The Medical Research Council (MRC) is responsible for co-coordinating and funding medical research in the United Kingdom. It is part of United Kingdom Research and Innovation (UKRI), which came into operation 1 April 2018, and brings together the UK's seven research councils, Innovate UK and Research England. UK Research and Innovation is answerable to, although politically independent from, the Department for Business, Energy and Industrial Strategy. The MRC focuses on high-impact research and has provided the financial support and scientific expertise behind a number of medical breakthroughs, including the development of penicillin and the discovery of the structure of DNA. Research funded by the MRC has produced 32 Nobel Prize winners to date. History The MRC was founded as the Medical Research Committee and Advisory Council in 1913, with its prime role being the distribution of medical research funds under the terms of the National Insurance Act 1911. This was a consequen ...
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Antisense Oligonucleotide
Oligonucleotides are short DNA or RNA molecules, oligomers, that have a wide range of applications in genetic testing, research, and forensics. Commonly made in the laboratory by solid-phase chemical synthesis, these small bits of nucleic acids can be manufactured as single-stranded molecules with any user-specified sequence, and so are vital for artificial gene synthesis, polymerase chain reaction (PCR), DNA sequencing, molecular cloning and as molecular probes. In nature, oligonucleotides are usually found as small RNA molecules that function in the regulation of gene expression (e.g. microRNA), or are degradation intermediates derived from the breakdown of larger nucleic acid molecules. Oligonucleotides are characterized by the sequence of nucleotide residues that make up the entire molecule. The length of the oligonucleotide is usually denoted by "-mer" (from Greek ''meros'', "part"). For example, an oligonucleotide of six nucleotides (nt) is a hexamer, while one of 25 nt woul ...
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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 ...
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Gene Silencing
Gene silencing is the regulation of gene expression in a cell to prevent the expression of a certain gene. Gene silencing can occur during either transcription or translation and is often used in research. In particular, methods used to silence genes are being increasingly used to produce therapeutics to combat cancer and other diseases, such as infectious diseases and neurodegenerative disorders. Gene silencing is often considered the same as gene knockdown. When genes are silenced, their expression is reduced. In contrast, when genes are knocked out, they are completely erased from the organism's genome and, thus, have no expression. Gene silencing is considered a gene knockdown mechanism since the methods used to silence genes, such as RNAi, CRISPR, or siRNA, generally reduce the expression of a gene by at least 70% but do not eliminate it. Methods using gene silencing are often considered better than gene knockouts since they allow researchers to study essential genes that are r ...
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Clinical Trials
Clinical trials are prospective biomedical or behavioral research studies on human participants designed to answer specific questions about biomedical or behavioral interventions, including new treatments (such as novel vaccines, drugs, dietary choices, dietary supplements, and medical devices) and known interventions that warrant further study and comparison. Clinical trials generate data on dosage, safety and efficacy. They are conducted only after they have received health authority/ethics committee approval in the country where approval of the therapy is sought. These authorities are responsible for vetting the risk/benefit ratio of the trial—their approval does not mean the therapy is 'safe' or effective, only that the trial may be conducted. Depending on product type and development stage, investigators initially enroll volunteers or patients into small pilot studies, and subsequently conduct progressively larger scale comparative studies. Clinical trials can vary i ...
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