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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
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… identifying the specific microbial population can guide therapy. In addition, the project aims to build a new IBD …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… suggest that the dog is once again on the cusp of a cancer therapy breakthrough," the researchers wrote in the Molecular … relevant system in which to further develop BRAF -targeted therapy strategies," they added. Canine tumors carrying the … to combat BRAF -associated cancers and seeking ways around drug resistance. Moreover, "because of the very high …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined … clinical trials, conduct of clinical trials of a drug to combat mitochondrial disease, determine the safety …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… LDL cholesterol and/or early heart attack. Elevated and therapy-resistant levels of LDL in either or both parents. … lose weight, may also help in lowering cholesterol levels. Drug therapy is usually necessary in combination with diet, … their significantly elevated levels of cholesterol. Often drug therapies are not sufficient to lower LDL cholesterol …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… such as abdominal pain, diarrhea and rectal bleeding. Drug therapy for Crohn's disease includes: Anti-inflammation drugs … system suprressors, such as 6-mercaptopurine or a related drug, azothioprine. Infliximab (Remicade), a drug that is the …
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 …
The Genomics Landscape
In the November 4, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how NHGRI researchers are emphasizing the need for diversity in genomics.
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 …