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Jeans For Genes
Jeans for Genes Day is a national fundraiser held in Australia and the United Kingdom.The two fundraisers are not associated with one another and raise money for different organisations. Jeans for Genes (Australia) In Australia, Jeans for Genes was founded by the Children’s Medical Research Institute (CMRI) in 1994. Jeans for Genes (United Kingdom) In the United Kingdom, The CGD Research Trust and Support Group was founded as a charity in 1991 by New Zealander, Ocean Numan, (Paul), with the aim of finding a cure for Chronic Granulomatous Disease (CGD) for his son and other CGD boys through gene therapy. This relatively new form of treatment still remains the greatest creator of hope that inherited diseases will be finally conquered. One of the Trust's dedicated supporters, Rosemarie Rymer, came up with the original idea of wearing jeans, for the benefit of your genes, one day in the year, and paying a gold coin donation to the national appeal. The first UK Jeans for Genes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chronic Granulomatous Disease
Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. This leads to the formation of granulomas in many organs. CGD affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year. This condition was first discovered in 1950 in a series of 4 boys from Minnesota, and in 1957 it was named "a fatal granulomatosus of childhood" in a publication describing their disease. The underlying cellular mechanism that causes chronic granulomatous disease was discovered in 1967, and research since that time has further elucidated the molecular mechanisms underlying the disease. Bernard Babior made key contributions in linking the ... [...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] |
Sickle Cell Anaemia
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain (known as a sickle cell crisis), anemia, swelling in the hands and feet, bacterial infections and stroke. Long-term pain may develop as people get older. The average life expectancy in the developed world is 40 to 60 years. Sickle cell disease occurs when a person inherits two abnormal copies of the β-globin gene (''HBB'') that makes haemoglobin, one from each parent. This gene occurs in chromosome 11. Several subtypes exist, depending on the exact mutation in each haemoglobin gene. An attack can be set off by tempera ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscular Dystrophy
Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs. Over 30 different disorders are classified as muscular dystrophies. Of those, Duchenne muscular dystrophy (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually ultrarare – genetic disorders. Muscular dystrophies are caused by mutations in genes, usually those involved in making muscle proteins. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University College London
, mottoeng = Let all come who by merit deserve the most reward , established = , type = Public research university , endowment = £143 million (2020) , budget = £1.544 billion (2019/20) , chancellor = Anne, Princess Royal(as Chancellor of the University of London) , provost = Michael Spence , head_label = Chair of the council , head = Victor L. L. Chu , free_label = Visitor , free = Sir Geoffrey Vos , academic_staff = 9,100 (2020/21) , administrative_staff = 5,855 (2020/21) , students = () , undergrad = () , postgrad = () , coordinates = , campus = Urban , city = London, England , affiliations = , colours = Purple and blue celeste , nickname ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Great Ormond Street Hospital
Great Ormond Street Hospital (informally GOSH or Great Ormond Street, formerly the Hospital for Sick Children) is a children's hospital located in the Bloomsbury area of the London Borough of Camden, and a part of Great Ormond Street Hospital for Children NHS Foundation Trust. The hospital is the largest centre for child heart surgery in the UK and one of the largest centres for heart transplantation in the world. In 1962 they developed the first heart and lung bypass machine for children. With children's book author Roald Dahl, they developed an improved shunt valve for children with hydrocephalus, and non-invasive (percutaneous) heart valve replacements. They did the first UK clinical trials of the rubella vaccine, and the first bone marrow transplant and gene therapy for severe combined immunodeficiency.Breakthroughs It is closely associated with University College London (UCL) and in partnership with the UCL Great Ormond Street Institute of Child Health, which is adjace ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Epidemiology
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups. Definition The use of the term ''Genetic epidemiology'' emerged in the mid-1980s as a new scientific field. In formal language, genetic epidemiology was defined by Newton Morton, one of the pioneers of the field, as "a science which deals with the etiology, distribution, and control of disease in groups of relatives and with inherited causes of disease in populations". It is closely allied to both molecular epidemiology and statistical genetics, but these overlapping fields each have distinct emphases, societies and journals. One definition of the field closely follows that of behavior genetics, defining genetic epidemiology as "the scientific discipline that deals w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Genetic Disorders
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans. Most common * P – Point mutation, or any insertion/deletion entirely inside one gene * D – Deletion of a gene or genes * Dup - Duplication of a gene or genes * C – Whole chromosome extra, missing, or both (see chromosome abnormality) * T – Trinucleotide repeat disorders: gene is extended in length Full genetic disorders list References Further reading * * * {{Medicine, state=collapsed * Disorder Genetic disorders Genetic disorders Genetic disorders 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 (polygen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Charity Events In The United Kingdom
Charity may refer to: Giving * Charitable organization or charity, a non-profit organization whose primary objectives are philanthropy and social well-being of persons * Charity (practice), the practice of being benevolent, giving and sharing * Charity (Christian virtue), the Christian religious concept of unlimited love and kindness * Principle of charity, in philosophy and rhetoric Places * Charity, Missouri, a community in the United States * Charity, Guyana, a small township * Mount Charity, Antarctica * Charity Glacier, Livingston Island, Antarctica * Charity Lake, British Columbia, Canada * Charity Island (Michigan), United States * Charity Island (Tasmania), Australia * Little Charity Island, Lake Huron, Michigan * Charity Creek, Sydney, Australia Entertainment * ''Charity'' (play), an 1874 play by W. S. Gilbert * ''Charity'' (novel), third in the ''Faith, Hope, Charity'' espionage trilogy of novels by Len Deighton * "Charity" (''Dilbert'' episode) * "Charity" (''Malco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
