Search Results
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… heal if surgery is done during childbirth. Zinc is another therapy for Wilson disease. Given in the form of zinc salts, … copper rather slowly, it usually is given as maintenance therapy for Wilson disease. It appears safe to use a full …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. This … attacks of fever in 75 percent of patients who take the drug regularly, and over 90 percent of patients demonstrate a …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… little bit of genetics can go a long way Experimental gene therapy for giant axonal neuropathy shows promise in NIH …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… – two conditions where finding safe and effective drug treatments have been difficult. Because there are few … makeup helps determine how they will respond to certain drug treatments. In pharmacogenomics, information about a … makeup helps determine how they will respond to certain drug treatments. These projects build upon the first phase of …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… Last year ended with exciting news from the U.S. Food and Drug Administration (FDA), which approved two gene therapies …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… though recent genome-driven efforts in lipid-lowering therapy have considerably shortened that interval. According … studies needed to receive approval from the Food and Drug Administration. Screening and diagnostic tests, however, … about a patient's genetic make-up to better tailor drug therapy to their individual needs. Clearly, genetics …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… ) is a pragmatic clinical trial comparing genotype-guided drug therapy versus usual approaches to drug therapy selection ("usual care") for acute post-surgical …
Profile
NHGRI science writer Prabarna Ganguly spoke with Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment campaigns.
… issue of containment of both pandemic threats and multi-drug-resistant organisms. How would we detect and then … in tracking hospital-acquired infections of multi-drug-resistant organisms. Over the 20 years that Segre has …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Leoyklang Cell-based functional assays for screening of drug candidates for Free Sialic Acid Storage Disorder. PB2008 … Sickle Cell Disease PB3447 Vence Bonham Democratizing Gene Therapy Education for Patient Communities. PB2369 David Adams … Syndrome: Exploring the therapeutic effect of gene therapy for HPS-1 pulmonary fibrosis PB2027 Zo Bly The …