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Educational Resources
Congenital conditions are those present from birth.
… Congenital refers to a condition or trait that exists at birth. Congenital … occurring during pregnancy or at birth, or they may be due to a combination of these factors. …
Policy Issues
Participar en una investigación genómica es una oportunidad para apoyar la exploración cientÃfica del genoma.
… los Institutos Nacionales de la Salud (National Institutes of Health, NIH) en su misión de entender, prevenir, detectar …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Applications UDN does not accept all applicants due to the complex nature of the body and the diseases being investigated. … Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. … The specific goals of UDN are to: (1) improve the level of diagnosis and care for patients …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Dr. Sidransky, chief of the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute at the … in both pediatrics and medical genetics. She was elected to the association of American Physicians and the Society for …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… A team from the National Institutes of Health has surmounted a major obstacle to testing potential drug therapies for a rare, genetic … that they have succeeded in coaxing cultured cells to exhibit the signature traits of the disease. Using this … in the GBA gene. It affects one in every 50,000 to 100,000 people, but is more common in people of Ashkenazi …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders … poor vision, and metabolic instability causing them to become seriously ill, sometimes with little warning. There …
Policy Issues
Synthetic biology is a field of science that involves redesigning organisms for useful purposes by engineering them to have new abilities.
… Synthetic biology is a field of science that involves redesigning organisms for useful purposes by engineering them to have new abilities. Synthetic biology researchers and … around the world are harnessing the power of nature to solve problems in medicine, manufacturing and agriculture. …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… and Screening Technology laboratory within the Division of Pre-Clinical Innovation at NCATS. His postdoctoral … disease foundations as an effective collaborative bridge to NCATS' expertise and resources, enabling a champion-driven effort in early-stage translation. Prior to the formation of NCATS, in 2004 Inglese co-founded the NIH …
Educational Resources
A pseudogene is a DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution.
… but has been mutated into an inactive form over the course of evolution. … from genes that have lost their protein-coding ability due to accumulated mutations that have occurred over the course …
Fact Sheet
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