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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 …
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 …
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 …
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 …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… search by scientific area. … Genomics Research Gene therapy for rare eye disease safe but lacks efficacy in early …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… inflammation and wound healing. The work also identified a drug that targets an important feedback loop controlled by … the researchers treated the patients with a JAK-inhibiting drug called ruxolitinib, the patients’ rashes and ulcers …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… had little effect on the patients, one biological drug called tocilizumab did. Tocilizumab, a drug that suppresses the immune system, reduced the severity …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… valproic acid, hydroxyurea, and riluzole. At present gene therapy - replacing the altered genes with a normal version ? …