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Chris Ponting
Christopher Paul Ponting is a British computational biologist, specializing in the evolution and function of genes and genomes. He is currently Chair of Medical Bioinformatics at the University of Edinburgh and group leader in the MRC Human Genetics Unit. He is also an Associate Faculty member of the Wellcome Trust Sanger Institute, a Fellow of the Academy of Medical Sciences, member of the European Molecular Biology Organisation and Fellow of the Royal Society of Edinburgh. His research focuses on long noncoding RNA function and evolution, on single cell biology and on disease genomics. Outside of science, Chris is an amateur novelist and wrote an unpublished, science fiction novel about engineered viruses.The Bioinformatics CRO Podcast'. Episode 2, 2020. Education After receiving his Bachelor of Arts and Master of Science in physics from University of Oxford and the University of British Columbia, respectively, he returned to Oxford, completing his Doctor of Philosophy in bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biology
Biology is the scientific study of life. It is a natural science with a broad scope but has several unifying themes that tie it together as a single, coherent field. For instance, all organisms are made up of cells that process hereditary information encoded in genes, which can be transmitted to future generations. Another major theme is evolution, which explains the unity and diversity of life. Energy processing is also important to life as it allows organisms to move, grow, and reproduce. Finally, all organisms are able to regulate their own internal environments. Biologists are able to study life at multiple levels of organization, from the molecular biology of a cell to the anatomy and physiology of plants and animals, and evolution of populations.Based on definition from: Hence, there are multiple subdisciplines within biology, each defined by the nature of their research questions and the tools that they use. Like other scientists, biologists use t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genome Project
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It remains the world's largest collaborative biological project. Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared essentially complete on April 14, 2003, but included only about 85% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022. Funding came from the United States government through the National Institutes of Health (NIH) as well as numerous other groups from around the world. A parallel project was conducted outside the government by the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DecodeME
deCODE genetics ( is, Íslensk erfðagreining) is a biopharmaceutical company based in Reykjavík, Iceland. The company was founded in 1996 by Kári Stefánsson with the aim of using population genetics studies to identify variations in the human genome associated with common diseases, and to apply these discoveries "to develop novel methods to identify, treat and prevent diseases." As of 2019, more than two-thirds of the adult population of Iceland was participating in the company's research efforts, and this "population approach" serves as a model for large-scale precision medicine and national genome projects around the world. deCODE is probably best known for its discoveries in human genetics, published in major scientific journals and widely reported in the international media. But it has also made pioneering contributions to the realization of precision medicine more broadly, through public engagement in large-scale scientific research; the development of DNA-based dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aicardi–Goutières Syndrome
Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder). The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. The clinical features of AGS can mimic those of ''in utero'' acquired infection, and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus (SLE). Following an original description of eight cases in 1984, the condition was first referred to as 'Aicardi–Goutières syndrome' (AGS) in 1992, and the first international meeting on AGS was held in Pavia, Italy, in 2001. AGS can occur due to mutations in any one of a number of different genes, of which nine have been identified to date, namely: '' TREX1'', ''RNASEH2A'', ''RNASEH2B'', ''RNASEH2C'' (which t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscular Dystrophies
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. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience " tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood. Retinitis pigmentosa is generally inherited from one or both parents or rarely it can be caused by a miscoding during DNA division. It is caused by genetic miscoding of proteins in one of more than 300 genes involved. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (Rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis (cell death). However, when the rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photorece ... [...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] |
Obesity
Obesity is a medical condition, sometimes considered a disease, in which excess body fat has accumulated to such an extent that it may negatively affect health. People are classified as obese when their body mass index (BMI)—a person's weight divided by the square of the person's height—is over ; the range is defined as overweight. Some East Asian countries use lower values to calculate obesity. Obesity is a major cause of disability and is correlated with various diseases and conditions, particularly cardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, and osteoarthritis. Obesity has individual, socioeconomic, and environmental causes. Some known causes are diet, physical activity, automation, urbanization, genetic susceptibility, medications, mental disorders, economic policies, endocrine disorders, and exposure to endocrine-disrupting chemicals. While a majority of obese individuals at any given time are attempti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asthma
Asthma is a long-term inflammatory disease of the airways of the lungs. It is characterized by variable and recurring symptoms, reversible airflow obstruction, and easily triggered bronchospasms. Symptoms include episodes of wheezing, coughing, chest tightness, and shortness of breath. These may occur a few times a day or a few times per week. Depending on the person, asthma symptoms may become worse at night or with exercise. Asthma is thought to be caused by a combination of genetic and environmental factors. Environmental factors include exposure to air pollution and allergens. Other potential triggers include medications such as aspirin and beta blockers. Diagnosis is usually based on the pattern of symptoms, response to therapy over time, and spirometry lung function testing. Asthma is classified according to the frequency of symptoms, forced expiratory volume in one second (FEV1), and peak expiratory flow rate. It may also be classified as atopic or non-ato ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromatin Structure
Chromatin is a complex of DNA and protein found in eukaryotic cells. The primary function is to package long DNA molecules into more compact, denser structures. This prevents the strands from becoming tangled and also plays important roles in reinforcing the DNA during cell division, preventing DNA damage, and regulating gene expression and DNA replication. During mitosis and meiosis, chromatin facilitates proper segregation of the chromosomes in anaphase; the characteristic shapes of chromosomes visible during this stage are the result of DNA being coiled into highly condensed chromatin. The primary protein components of chromatin are histones. An octamer of two sets of four histone cores (Histone H2A, Histone H2B, Histone H3, and Histone H4) bind to DNA and function as "anchors" around which the strands are wound.Maeshima, K., Ide, S., & Babokhov, M. (2019). Dynamic chromatin organization without the 30-nm fiber. ''Current opinion in cell biology, 58,'' 95–104. https://doi.o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Comparative Genomics
Comparative genomics is a field of biological research in which the genomic features of different organisms are compared. The genomic features may include the DNA sequence, genes, gene order, regulatory sequences, and other genomic structural landmarks. In this branch of genomics, whole or large parts of genomes resulting from genome projects are compared to study basic biological similarities and differences as well as evolutionary relationships between organisms. The major principle of comparative genomics is that common features of two organisms will often be encoded within the DNA that is evolutionarily conserved between them. Therefore, comparative genomic approaches start with making some form of alignment of genome sequences and looking for orthologous sequences (sequences that share a common ancestry) in the aligned genomes and checking to what extent those sequences are conserved. Based on these, genome and molecular evolution are inferred and this may in turn be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Platypus
The platypus (''Ornithorhynchus anatinus''), sometimes referred to as the duck-billed platypus, is a semiaquatic, egg-laying mammal endemic to eastern Australia, including Tasmania. The platypus is the sole living representative or monotypic taxon of its family ( Ornithorhynchidae) and genus (''Ornithorhynchus''), though a number of related species appear in the fossil record. Together with the four species of echidna, it is one of the five extant species of monotremes, mammals that lay eggs instead of giving birth to live young. Like other monotremes, it senses prey through electrolocation. It is one of the few species of venomous mammals, as the male platypus has a spur on the hind foot that delivers a venom, capable of causing severe pain to humans. The unusual appearance of this egg-laying, duck-billed, beaver-tailed, otter-footed mammal baffled European naturalists when they first encountered it, and the first scientists to examine a preserved platypus body (i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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