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- Multi-Omics for Health and Disease (Multi-Omics)1
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News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or … To date, they have discovered 23 new genetic disorders and disease phenotypes. "The UDP has been an extraordinary …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … to fewer white blood cells, which puts you at a higher risk of serious infection. After the chemotherapy, you will …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Ph.D. … Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … The National Human Genome … Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB. “We are delighted … and human genetics. As head of the Childhood Complex Disease Genomics Section, Dr. Hanchard will lead efforts to …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… of high blood pressure, hypertension and chronic kidney disease. Both hypertension and high blood pressure exacerbate … APOL1 ) gene that increase susceptibility to severe kidney disease by a factor of 10. Researchers will compare whether … of high blood pressure and improved prevention of kidney disease caused by high blood pressure. Treatment of …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Sickle cell disease is the most common inherited blood disorder in the … only a handful of options to manage or treat sickle cell disease.  Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate these new therapies, more than 50 …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 … and millions of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come from …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… Health Research and head of the Childhood Complex Disease Genomics Section within the Intramural Research … such as malnutrition, hypertension and sickle cell disease in diverse populations. He also works with a highly … transfusion treatments seen in patients with sickle cell disease. Many of the conditions that Dr. Hanchard studies are …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… subset of genomic variants contributes to human health and disease.  Researchers create reference human genome … SNVs but can sometimes have a larger impact on health and disease (e.g., by disrupting the function of a gene that … where a genomic variant might contribute to the overall risk that a person might have of the condition). Healthcare …
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
… of both genomic and non-genomic contributors to health and disease — routinely considering the importance of social and … genomic conditions can provide insights into more complex disease processes, where the causes are often a truly … a 22-item framework that identifies the minimal polygenic risk score-related information researchers should include in …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… differ and other treatment options for sickle cell disease, such as bone marrow transplant.  Each of these … treatment approaches aim to modify the severity of the disease. Learn more about your red blood cells to help you … blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone …