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Robert Williamson (physician)
Robert Williamson (born 1938) is a retired British-Australian molecular biologist who specialised in the mapping, gene identification, and diagnosis of human genetic disorders. Career Williamson was born in Cleveland, Ohio, to Scottish parents. He was educated at the Bronx High School of Science in New York and then Wandsworth School in South London after his parents returned to the UK, before studying at University College London. From 1963 he was lecturer, then senior lecturer, in developmental biology at the University of Glasgow. From 1976 he was Professor and head of Molecular Genetics and Biochemistry at St Mary's Hospital Medical School, University of London. He emigrated to Melbourne, Australia in 1995 to be Director of the Murdoch Children's Research Institute (then the Murdoch Institute) and Professor of Medical Genetics at the University of Melbourne. He edited several books on genetic engineering and on the ethics of the new genetic sciences. Since his retirement ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Companion Of The Order Of Australia
The Order of Australia is an honour that recognises Australian citizens and other persons for outstanding achievement and service. It was established on 14 February 1975 by Elizabeth II, Queen of Australia, on the advice of the Australian Government. Before the establishment of the order, Australian citizens received British honours. The Monarch of Australia is sovereign head of the order, while the Governor-General of Australia is the principal companion/dame/knight (as relevant at the time) and chancellor of the order. The governor-general's official secretary, Paul Singer (appointed August 2018), is secretary of the order. Appointments are made by the governor-general on behalf of the Monarch of Australia, based on recommendations made by the Council of the Order of Australia. Recent knighthoods and damehoods were recommended to the governor-general by the Prime Minister of Australia. Levels of membership The order is divided into a general and a military division. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
St Mary's Hospital Medical School
St Mary's is the youngest of the constituent schools of Imperial College London, founded in 1854 as part of the new hospital in Paddington. During its existence in the 1980s and 1990s, it was the most popular medical school in the country, with an application to place ratio of 27:1 in 1996. St Mary's continued comparatively unmoved by the other nomadic medical schools in the area, until its merger with Imperial College in 1988, and the foundation of Imperial College School of Medicine in 1997 by the merger with Charing Cross and Westminster Medical School. ''Doctors to Be'' ''Doctors to Be'', a biographical documentary series first broadcast on BBC Two by BBC Television, followed 10 medical students who enrolled at St Mary's Hospital Medical School in the 1985 intake. It started with admission interviews in November 1984, then followed their lives as medical students for five or six years, and ended with their first experiences of working as busy junior hospital doctors in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniofacial Abnormalities
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. They are associated with the development of the pharyngeal arches. Approximately, 5% of the UK or USA population present with dentofacial deformities requiring Orthognathic surgery, jaw surgery, and Orthodontics, brace therapy, as a part of their definitive treatment. Notable conditions * Platybasia * Arrhinia - absence of the nose * Craniosynostosis - premature fusion of the cranial sutures * Cyclopia - one eye * Mobius syndrome Moebius, Möbius or Mobius may refer to: People * August Ferdinand Möbius (1790–1868), German mathematician and astronomer * Theodor Möbius (1821–1890), German philologist * Karl Möbius (1825–1908), German zoologist and ecologist * Paul ... - paralysis of the facial muscles References External links Congenital disorders of musculoskeletal system {{musculoskeletal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coronary Artery Disease
Coronary artery disease (CAD), also called coronary heart disease (CHD), ischemic heart disease (IHD), myocardial ischemia, or simply heart disease, involves the reduction of blood flow to the heart muscle due to build-up of atherosclerotic plaque An atheroma, or atheromatous plaque, is an abnormal and reversible accumulation of material in the inner layer of an arterial wall. The material consists of mostly macrophage cells, or debris, containing lipids, calcium and a variable amount ... in the arteries of the heart. It is the most common of the cardiovascular diseases. Types include stable angina, unstable angina, myocardial infarction, and sudden cardiac death. A common symptom is chest pain or discomfort which may travel into the shoulder, arm, back, neck, or jaw. Occasionally it may feel like heartburn. Usually symptoms occur with exercise or emotional Stress (psychological), stress, last less than a few minutes, and improve with rest. Shortness of breath may also o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Friedreich's Ataxia
Friedreich's ataxia (FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech that worsens over time. Symptoms generally start between 5 and 20 years of age. Many develop hypertrophic cardiomyopathy and require a mobility aid such as a cane, walker, or wheelchair in their teens. As the disease progresses, some affected people lose their sight and hearing. Other complications may include scoliosis and diabetes mellitus. The condition is caused by mutations in the ''FXN'' gene on chromosome 9, which makes a protein called frataxin. In FRDA, cells produce less frataxin. Degeneration of nerve tissue in the spinal cord causes the ataxia; particularly affected are the sensory neurons essential for directing muscle movement of the arms and legs through connections with the cerebellum. The spinal cord becomes thinner, and nerve cells lose some myelin sheath. No effective treatment is kn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myotonic Dystrophy
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often unable to relax after contraction. Other manifestations may include cataracts, intellectual disability and heart conduction problems. In men, there may be early balding and an inability to have children. While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. Myotonic dystrophy is caused by a genetic mutation in one of two genes. Mutation of the '' DMPK'' gene causes myotonic dystrophy type 1 (DM1). Mutation of '' CNBP'' gene causes type 2 (DM2). DM is typically inherited from a person's parents, following an autosomal dominant inheritance pattern, and it generally worsens with each generation. A type of DM1 may be apparent at birth. DM2 is generally milder. Diagnosis is confirmed by genetic testing. There is no cure. Treatments may include braces or wheelchairs, pacemakers and non ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Francis Collins
Francis Sellers Collins (born April 14, 1950) is an American physician-geneticist who discovered the genes associated with a number of diseases and led the Human Genome Project. He is the former director of the National Institutes of Health (NIH) in Bethesda, Maryland, from 17 August 2009 to 19 December 2021, serving under three presidents, and for over 12 years. Before being appointed director of the NIH, Collins led the Human Genome Project and other genomics research initiatives as director of the National Human Genome Research Institute (NHGRI), one of the 27 institutes and centers at NIH. Before joining NHGRI, he earned a reputation as an LSU Fan at the University of Michigan. He has been elected to the Institute of Medicine and the National Academy of Sciences, and has received the Presidential Medal of Freedom and the National Medal of Science. Collins also has written a number of books on science, medicine, and religion, including the ''New York Times'' bestseller, '' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lap-Chee Tsui
Lap-Chee Tsui (; born 21 December 1950) is a Chinese-born Canadian geneticist and served as the 14th Vice-Chancellor and President of the University of Hong Kong. Personal life Tsui was born in Shanghai. He grew up in Kowloon, Hong Kong and attended Homantin Government Secondary School. He studied Biology at the New Asia College of the Chinese University of Hong Kong and was awarded a B.Sc. (3rd Class Honours) and a M.Phil. in 1972 and 1974, respectively. Upon the recommendation of his mentor at the CUHK, he continued his graduate education in the United States and received his Ph.D. from the University of Pittsburgh in 1979. He became Postdoctoral Investigator and Postdoctoral Fellow in 1979 at Oak Ridge National Laboratory, Tennessee, then joined the Department of Genetics of the Hospital for Sick Children in Toronto in 1981. Career From 1981 to 2002, Tsui continued his research and teaching in the Hospital for Sick Children and the University of Toronto alternatively. Pri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Fibrosis
Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms. Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly healthy. CFTR is involved in the production of sweat, digestive fluids, and mucus. When the CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms. The disorder is X-linked recessive. About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation. It is caused by a mutation in the gene for the protein dystrophin. Dystrophin is important to maintain the muscle fiber's cell membrane. Genetic testing can often make the diagnosis at birth. Those affected also have a high level of creatine kinase in their blood. Although there is no know ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kay Davies
Dame Kay Elizabeth Davies One or more of the preceding sentences incorporates text from the royalsociety.org website where: (''née'' Partridge; born 1 April 1951) is a British geneticist. She is Dr Lee's Professor of Anatomy at the University of Oxford and a Fellow of Hertford College, Oxford. She is director of the Medical Research Council (MRC) functional genetics unit, a governor of the Wellcome Trust,Kay Davies a director of the Oxford Centre for Gene Function, and a patron and Senior Member of Oxford University Scientific Society. Her research group has an international reputation for work on Duchenne muscular dystrophy (DMD). In the 1980s, she developed a test which allowed for the screening of foetuses whose mothers have a high risk of carrying DMD. Early life and education Davies was born in Stourbridge, Worcestershire, (now West Midlands). She was educated at the Gig Mill School, Stourbridge County High School for Girls, Somerville College, Oxford, and Wolfson Co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
