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Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… Dr. Peter McGuire in the MINI Section at NHGRI focuses on immune phenotyping of mitochondrial disease to better …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
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 …
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 …
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 …