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Undiagnosed Diseases Network
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. UDN was established in 2014 with seven clinical sites located at medical institutions across the United States. As of 2019, twelve clinical sites are open. Shared resources include a central biorepository, sequencing core, metabolomics core, and animal research centers. History In 2008, the National Institute of Health (NIH) established the Undiagnosed Diseases Program (UDP), with the intent to provide medical care to patients with rare diseases seeking a diagnosis and to discover new pathways and mechanisms involved in disease. At the time, ongoing genomic research and advances in DNA sequencing strengthened the potential for successes in precision medicine, providing a stimulus to the objec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Institutes Of Health Common Fund
The National Institutes of Health Common Fund is an initiative of the National Institutes of Health (NIH) aimed at supporting research collaboration between two or more NIH institutes and centers (ICs). The fund offers flexible support for cutting edge, multidisciplinary, multi-investigator and higher risk research. It is intended to streamline US biomedical research and make it more flexible in response to society's health needs. The high-impact programs it supports are known collectively as the "NIH Roadmap for Medical Research". It is coordinated by the Office of Strategic Coordination, one of the six offices of the Division of Program Coordination, Planning, and Strategic Initiatives (DPCPSI) within the Office of the Director. Common Fund programs are expected to transform the way a broad spectrum of health research is conducted. Initiatives that comprise Common Fund programs are intended to be catalytic in nature by providing limited term investments in strategic areas to sti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Washington
The University of Washington (UW, simply Washington, or informally U-Dub) is a public research university in Seattle, Washington. Founded in 1861, Washington is one of the oldest universities on the West Coast; it was established in Seattle approximately a decade after the city's founding. The university has a 703 acre main campus located in the city's University District, as well as campuses in Tacoma and Bothell. Overall, UW encompasses over 500 buildings and over 20 million gross square footage of space, including one of the largest library systems in the world with more than 26 university libraries, art centers, museums, laboratories, lecture halls, and stadiums. The university offers degrees through 140 departments, and functions on a quarter system. Washington is the flagship institution of the six public universities in Washington state. It is known for its medical, engineering, and scientific research. Washington is a member of the Association of American Universiti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nuclear Magnetic Resonance
Nuclear magnetic resonance (NMR) is a physical phenomenon in which nuclei in a strong constant magnetic field are perturbed by a weak oscillating magnetic field (in the near field) and respond by producing an electromagnetic signal with a frequency characteristic of the magnetic field at the nucleus. This process occurs near resonance, when the oscillation frequency matches the intrinsic frequency of the nuclei, which depends on the strength of the static magnetic field, the chemical environment, and the magnetic properties of the isotope involved; in practical applications with static magnetic fields up to ca. 20 tesla, the frequency is similar to VHF and UHF television broadcasts (60–1000 MHz). NMR results from specific magnetic properties of certain atomic nuclei. Nuclear magnetic resonance spectroscopy is widely used to determine the structure of organic molecules in solution and study molecular physics and crystals as well as non-crystalline materials. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gas Chromatography–mass Spectrometry
Gas chromatography–mass spectrometry (GC-MS) is an analytical method that combines the features of gas-chromatography and mass spectrometry to identify different substances within a test sample. Applications of GC-MS include drug detection, fire investigation, environmental analysis, explosives investigation, and identification of unknown samples, including that of material samples obtained from planet Mars during probe missions as early as the 1970s. GC-MS can also be used in airport security to detect substances in luggage or on human beings. Additionally, it can identify trace elements in materials that were previously thought to have disintegrated beyond identification. Like liquid chromatography–mass spectrometry, it allows analysis and detection even of tiny amounts of a substance. GC-MS has been regarded as a "gold standard" for forensic substance identification because it is used to perform a 100% specific test, which positively identifies the presence of a particular ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metabolite
In biochemistry, a metabolite is an intermediate or end product of metabolism. The term is usually used for small molecules. Metabolites have various functions, including fuel, structure, signaling, stimulatory and inhibitory effects on enzymes, catalytic activity of their own (usually as a cofactor to an enzyme), defense, and interactions with other organisms (e.g. pigments, odorants, and pheromones). A primary metabolite is directly involved in normal "growth", development, and reproduction. Ethylene exemplifies a primary metabolite produced large-scale by industrial microbiology. A secondary metabolite is not directly involved in those processes, but usually has an important ecological function. Examples include antibiotics and pigments such as resins and terpenes etc. Some antibiotics use primary metabolites as precursors, such as actinomycin, which is created from the primary metabolite tryptophan. Some sugars are metabolites, such as fructose or glucose, which are both p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exome Sequencing
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology. The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic. Motivation and comparison to other approaches Exome sequencing is especially effective in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Whole Genome Sequencing
Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondrial DNA, mitochondria and, for plants, in the chloroplast. Whole genome sequencing has largely been used as a research tool, but was being introduced to clinics in 2014. In the future of personalized medicine, whole genome sequence data may be an important tool to guide therapeutic intervention. The tool of DNA sequencing, gene sequencing at Single-nucleotide polymorphism, SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Houston
Houston (; ) is the most populous city in Texas, the most populous city in the Southern United States, the fourth-most populous city in the United States, and the sixth-most populous city in North America, with a population of 2,304,580 in 2020. Located in Southeast Texas near Galveston Bay and the Gulf of Mexico, it is the seat and largest city of Harris County and the principal city of the Greater Houston metropolitan area, which is the fifth-most populous metropolitan statistical area in the United States and the second-most populous in Texas after Dallas–Fort Worth. Houston is the southeast anchor of the greater megaregion known as the Texas Triangle. Comprising a land area of , Houston is the ninth-most expansive city in the United States (including consolidated city-counties). It is the largest city in the United States by total area whose government is not consolidated with a county, parish, or borough. Though primarily in Harris County, small portions of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nashville, Tennessee
Nashville is the capital city of the U.S. state of Tennessee and the county seat, seat of Davidson County, Tennessee, Davidson County. With a population of 689,447 at the 2020 United States census, 2020 U.S. census, Nashville is the List of municipalities in Tennessee, most populous city in the state, List of United States cities by population, 21st most-populous city in the U.S., and the fourth most populous city in the southeastern United States, southeastern U.S. Located on the Cumberland River, the city is the center of the Nashville metropolitan area, which is one of the fastest growing in the nation. Named for Francis Nash, a general of the Continental Army during the American Revolutionary War, the city was founded in 1779. The city grew quickly due to its strategic location as a port on the Cumberland River and, in the 19th century, a railroad center. Nashville seceded with Tennessee during the American Civil War; in 1862 it was the first state capital in the Confederate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vanderbilt University Medical Center
The Vanderbilt University Medical Center (VUMC) is a medical provider with multiple hospitals in Nashville, Tennessee, as well as clinics and facilities throughout Middle Tennessee. VUMC is an independent non-profit organization, but maintains academic affiliations with Vanderbilt University. As of 2022, the health system had more than 3 million patient visits a year, a workforce of 40,000, and 1,709 licensed hospital beds. Overview VUMC comprises the following units: * Vanderbilt University Adult Hospital * Monroe Carell Jr. Children's Hospital at Vanderbilt * Vanderbilt-Ingram Cancer Center * The Vanderbilt Clinic * Vanderbilt Bill Wilkerson Center * Vanderbilt Stallworth Rehabilitation Hospital * Vanderbilt Psychiatric Hospital * Eskind Biomedical Library * Vanderbilt Sports Medicine * Dayani Human Performance Center * Vanderbilt Heart & Vascular Institute *Nashville Biosciences (''aka'' NashBio), a subsidiary spun out from the university in 2018 VUMC also has hospitals, clin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peripheral Blood Mononuclear Cell
A peripheral blood mononuclear cell (PBMC) is any peripheral blood cell having a round nucleus. These cells consist of lymphocytes (T cells, B cells, NK cells) and monocytes, whereas erythrocytes and platelets have no nuclei, and granulocytes (neutrophils, basophils, and eosinophils) have multi-lobed nuclei. In humans, lymphocytes make up the majority of the PBMC population, followed by monocytes, and only a small percentage of dendritic cells. These cells can be extracted from whole blood or buffy coat samples using a hydrophilic colloid and density gradient centrifugation, which separates the blood into a top layer of plasma, followed by a layer of PBMCs and a bottom fraction of polymorphonuclear cells (such as neutrophils and eosinophils) and erythrocytes. The polymorphonuclear cells can be further isolated by lysing the erythrocytes. Basophils are sometimes found in both the denser and the PBMC fractions. A high-quality PBMC isolate has a viability over 90% and a low concentr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urine
Urine is a liquid by-product of metabolism in humans and in many other animals. Urine flows from the kidneys through the ureters to the urinary bladder. Urination results in urine being excretion, excreted from the body through the urethra. Cell (biology), Cellular metabolism generates many by-products that are rich in nitrogen and must be clearance (medicine), cleared from the Circulatory system, bloodstream, such as urea, uric acid, and creatinine. These by-products are expelled from the body during urination, which is the primary method for excreting water-soluble chemicals from the body. A urinalysis can detect nitrogenous wastes of the mammalian body. Urine plays an important role in the earth's nitrogen cycle. In balanced ecosystems, urine fertilizes the soil and thus helps plants to grow. Therefore, Reuse of excreta, urine can be used as a fertilizer. Some animals use it to territory (animal)#Scent marking, mark their territories. Historically, aged or fermented urine (kn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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