Search Results
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… defective gene, or correcting the defective protein. Gene Therapy Research Offers Promise of a Cure for Cystic Fibrosis Gene therapy offers great promise for life-saving treatment for CF … the cause of CF rather than just treating symptoms. Gene therapy for CF had its start in 1990, when scientists …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… itself is still risky and can result in death. Gene Therapy Offers Hope for a Cure Scientists are working to develop a gene therapy that may offer a cure for thalassemia. Such a … of all other cells in the blood. Another form of gene therapy could involve using drugs or other methods to …
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 …
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 …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… Koehly Lab  Gene Expression & Bioinformatics for Prenatal Therapy in Down Syndrome Sarah E. Lee Postdoctoral Fellow, … Translational Sciences  Novel Label-free High Throughput Drug Repurposing Screen Jaqueline Picache Postdoctoral … designer spheroids for disease modeling and drug screening Caroline Strong Postdoctoral Fellow, National …