Search Results
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… cardiology, psychiatry, neurology, infection diseases, and pain control. Application of real pharmacogenomic data from …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… 125 million people in the U.S. live with some form of a chronic inflammatory disease. Many of these diseases have …
MINC
Genomics is relevant to the practice of all nurses.
… a cause for my symptoms. I had progressive weakness and pain which couldn’t be explained resulting in numerous visits …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… deposit around the cornea of the eye). If angina (chest pain) is present, it may be sign that heart disease is …
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
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… by fevers, urticaria-like rash, bony overgrowth, and chronic aseptic meningitis. Later, she discovered … demonstrated digenic inheritance in patients with CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… as liver enlargement, blood clotting problems, or bone pain. About 10 years after Sidransky started studying it, she …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… an inflammation of medium and small arteries that leads to pain, rashes, numbness, weakness and vital organ damage. PAN …
Staff
Dr. Erin M. Ramos is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… levels. Excessive food intake (polyphagia/hyperphagia). Chronic kidney failure, most often after age 12 years. …