Search Results
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… and foods that contain caffeine which can lead to chronic increases in blood pressure and stretch the …
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 …
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 …
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 …
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
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 …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
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 …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes, centers, and offices (ICOs) on the investigator-initiated ELSI Research Grants (R01, R21, R03). Program Officer(s) contact information is also included for each ICO.
… to risk for OUD how do we use it clinically for acute pain and/or chronic pain? What are the potential misuses by clinicians of genetic …
Fact Sheet
Sickle cell disease resources for patients