Search Results
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of … on the same side (ipsilateral hand). Sometimes referred to as "Poland syndrome," it is an uncommon condition present … Since the severity of Poland anomaly differs from person to person, it is not often diagnosed or reported. Sometimes, …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… and on early studies using homologous recombination to introduce mutations into the germline of mice — work that … laboratory uses the mouse as its primary genetic organism due to the strength of genetic approaches and the … immunodeficiencies, including those resulting from Itk-deficiency or activating mutations of PI3K p110delta, both of …
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Say Cheese
… NHGRI's Office of Communications invites you to schedule time with our … photos will require more time and will be taken outside due to COVID restrictions. To accommodate group photos, …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… The Big Picture Appropriate use of population descriptors in research is a critical … ethnicity and genetic ancestry — which are often used to distinguish groups of people participating in research and … genomics research.  … Racial categories changed over time due to shifts in scientific, political and social thinking …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… Metabolism is a sequence of chemical reactions that take place in cells in the body. … that causes a block in a metabolic pathway leading to clinically significant consequences. … What are the … 1 (CPS1) is not working, the IEM is called "CPS1 deficiency". A list of broad categories of IEM and some …
Staff
Dr. ​Eric D. Green is the Director of the National Human Genome Research Institute at the National Institutes of Health.
… (PDF) Eric D. Green, M.D., Ph.D., is the director of the National Human Genome Research Institute (NHGRI) at … the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome … of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines. BMC …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… This study was initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has … TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) VEXAS (Vacuoles, …
Educational Resources
A birth defect is an abnormality present at birth.
… factors, prenatal events during pregnancy or a combination of both. Some birth defects are easy to see (such as an extra or missing finger), while others (such as an enzyme deficiency) are identified through special tests. … A birth …
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… collaborators have identified a specific genomic signature of some aggressive prostate tumors, which may help health … we discovered might be the most comprehensive way to identify a specific subgroup of prostate cancer tumors … team is now exploring the molecular signature of BRCA2 -deficiency in prostate tumors from least to most aggressive. …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… Steven Benowitz … Many "medical foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and … disorders of organic acid metabolism, results from a deficiency of enzymes involved in amino acid metabolism. …