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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known … scientists had yet to connect ATG4D to any neurological disease in humans. “Among genetic diseases, we’ve solved many …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… predict how a certain type of cancer will progress , find disease-causing genomic variants and identify genetic … and imaging data. After working with propionic acidemia disease experts to create a system to classify patients into … their children after learning about their child’s genomic risk for health conditions. Using immersive virtual reality …
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 …
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
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know about … of the Bioethics Core at NHGRI. “By talking to sickle cell disease stakeholders ahead of time, we can learn more about … make very a difficult decision.” By talking to sickle cell disease stakeholders ahead of time, we can learn more about …
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 …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… Bryant had a variant in the RET gene, which increased his risk of having a condition called multiple endocrine … surgery to remove his thyroid. At his early stage of the disease, the removal of the thyroid is usually curative … relying on individual and collective genomic data to make assessments about a person’s health risks. Clinicians can …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… to discuss this major advance for rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has … first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in … in the discovery of the gene responsible for the disease, the development of a mouse model, and the …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… Center. Inflammation is the body's response to injury, disease, or irritation of the tissues. Dr. Kastner and his …