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TREAT-NMD
TREAT-NMD (treat NeuroMuscular Disease) is a global academic network that focuses on advancing research in neuromuscular disorders. It was established in 2007 with its coordination centre at the Newcastle University. As of 2018, the network comprises over a hundred research centres and patient organisations from 54 countries as well as independent academics and patient representatives. The network's aim is to provide infrastructure to accelerating research through supporting collaboration between its members. Its main goals include improving trial-readiness worldwide, advancing patient diagnosis and care and accelerating pre-clinical research. Through patient registries, TREAT-NMD provides genotype–phenotype correlation between genetic mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patient Registries
Disease or patient registries are collections of secondary data related to patients with a specific diagnosis, condition, or procedure, and they play an important role in post marketing surveillance of pharmaceuticals. Registries are different from indexes in that they contain more extensive data. In its simplest form, a disease registry could consist of a collection of paper cards kept inside "a shoe box" by an individual physician. Most frequently registries vary in sophistication from simple spreadsheets that only can be accessed by a small group of physicians to very complex databases that are accessed online across multiple institutions. They can provide health providers (or even patients) with reminders to check certain tests in order to reach certain quality goals. Versus electronic medical records Registries are less complex and simpler to set up than electronic medical records that according to a recent survey are only used by 9% of small offices where almost half of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuromuscular Diseases
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or genetic. Mutations of more than 500 genes have shown to be causes of neuromuscular diseases. Other causes include nerve or muscle degeneration, autoimmunity, toxins, medications, malnutrition, metabolic derangements, hormone imbalances, infection, nerve compression/entrapment, comprised blood supply, and trauma. Signs and symptoms Symptoms of neuromuscular disease may include numbness, paresthesia, muscle weakness, muscle atrophy, myalgia (muscle pain), and fasciculations (muscle twitches). Causes Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of the collagen disorder Ehlers–Danlos syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinical Research
Clinical research is a branch of healthcare science that determines the safety and effectiveness ( efficacy) of medications, devices, diagnostic products and treatment regimens intended for human use. These may be used for prevention, treatment, diagnosis or for relieving symptoms of a disease. Clinical research is different from clinical practice. In clinical practice established treatments are used, while in clinical research evidence is collected to establish a treatment. Overview The term "clinical research" refers to the entire bibliography of a drug/device/biologic, in fact any test article from its inception in the lab to its introduction to the consumer market and beyond. Once the promising candidate or the molecule is identified in the lab, it is subjected to pre-clinical studies or animal studies where different aspects of the test article (including its safety toxicity if applicable and efficacy, if possible at this early stage) are studied. In the United States ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Commission
The European Commission (EC) is the executive of the European Union (EU). It operates as a cabinet government, with 27 members of the Commission (informally known as "Commissioners") headed by a President. It includes an administrative body of about 32,000 European civil servants. The Commission is divided into departments known as Directorates-General (DGs) that can be likened to departments or ministries each headed by a Director-General who is responsible to a Commissioner. There is one member per member state, but members are bound by their oath of office to represent the general interest of the EU as a whole rather than their home state. The Commission President (currently Ursula von der Leyen) is proposed by the European Council (the 27 heads of state/governments) and elected by the European Parliament. The Council of the European Union then nominates the other members of the Commission in agreement with the nominated President, and the 27 members as a team are then ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sixth Framework Programme
The Framework Programmes for Research and Technological Development, also called Framework Programmes or abbreviated FP1 to FP9, are funding programmes created by the European Union/European Commission to support and foster research in the European Research Area (ERA). Starting in 2014, the funding programmes were named Horizon. The funding programmes began in 1984 and continue to the present day. The most recent programme, Horizon Europe, has a budget of 95.5 billion Euros to be distributed over 7 years. The specific objectives and actions vary between funding periods. In FP6 and FP7, focus was on technological research. In Horizon 2020, the focus was on innovation, delivering economic growth faster, and delivering solutions to end users that are often governmental agencies. Background Conducting European research policies and implementing European research programmes is an obligation under the Amsterdam Treaty, which includes a chapter on research and technological development. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Network Of Excellence
The Framework Programmes for Research and Technological Development, also called Framework Programmes or abbreviated FP1 to FP9, are funding programmes created by the European Union/European Commission to support and foster research in the European Research Area (ERA). Starting in 2014, the funding programmes were named Horizon. The funding programmes began in 1984 and continue to the present day. The most recent programme, Horizon Europe, has a budget of 95.5 billion Euros to be distributed over 7 years. The specific objectives and actions vary between funding periods. In FP6 and FP7, focus was on technological research. In Horizon 2020, the focus was on innovation, delivering economic growth faster, and delivering solutions to end users that are often governmental agencies. Background Conducting European research policies and implementing European research programmes is an obligation under the Amsterdam Treaty, which includes a chapter on research and technological development. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Newcastle University
Newcastle University (legally the University of Newcastle upon Tyne) is a UK public university, public research university based in Newcastle upon Tyne, North East England. It has overseas campuses in Singapore and Malaysia. The university is a red brick university and a member of the Russell Group, an association of research-intensive UK universities. The university finds its roots in the School of Medicine and Surgery (later the College of Medicine), established in 1834, and the Edward Fenwick Boyd#College of Physical Science, College of Physical Science (later renamed Armstrong College), founded in 1871. These two colleges came to form the larger division of the federal University of Durham, with the Durham Colleges forming the other. The Newcastle colleges merged to form King's College in 1937. In 1963, following an Act of Parliament, King's College became the University of Newcastle upon Tyne. The university subdivides into three faculties: the Faculty of Humanities and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuromuscular Disease
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or genetic. Mutations of more than 500 genes have shown to be causes of neuromuscular diseases. Other causes include nerve or muscle degeneration, autoimmunity, toxins, medications, malnutrition, metabolic derangements, hormone imbalances, infection, nerve compression/entrapment, comprised blood supply, and trauma. Signs and symptoms Symptoms of neuromuscular disease may include numbness, paresthesia, muscle weakness, muscle atrophy, myalgia (muscle pain), and fasciculations (muscle twitches). Causes Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of the collagen disorder Ehlers–Dan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genotype
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous. Genotype contributes to phenotype, the observable traits and characteristics in an individual or organism. The degree to which genotype affects phenotype depends on the trait. For example, the petal color in a pea plant is exclusively determined by genotype. The petals can be purple or white depending on the alleles present in the pea plant. Howev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
