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Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… certain processes and systems in the mouse - such as the immune system, metabolism and stress response - are so different … For example, investigators found that for the mouse immune system, metabolic processes and stress response, the …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… about the role of viral infection and biomarkers of the immune system in people with mitochondrial disease by using the …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
… directs the production of a protein that is part of the system that regulates cell division. … BRCA1, BRCA2, Cancer, … directs the production of a protein that is part of the system that regulates cell division. … Educational Resources …
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
Staff
Dr. Meru Sadhu is the head of the Systems Biology and Genome Engineering Section at the National Human Genome Research Institute. ​
… oligonucleotide synthesis, the power of the yeast model system, and high-throughput phenotyping and genotyping to …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… one of the most severe of adverse reactions affecting any system in the body. It impacts about 1-3 people per million … Wanpen Anderson. SJS/TEN occurs with an attack from the immune system and starts with a fever and flu-like symptoms. … genetic risk factors that predispose patients to severe immune mediated drug reactions like SJS/TEN, as well as …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… genomic research and medicine. Strengthen the healthcare system in developing nations for the provision, delivery and … of Genetics and Metabolism at Children's National Health System, the Maternal and Fetal Medicine program at MedStar …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).