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Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and potential solutions to … of host genomic information in clinical care of infectious diseases … and the National Institute of Allergy and Infectious Diseases (NIAID) co-sponsored the 16th Genomic Medicine …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane's Retraction Syndrome - Yahoo! Groups Genetics and Rare Diseases Information Center Finding Reliable Health … Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome is a rare, congenital eye movement disorder. …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… Series is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… disease pathophysiology, genetics and treatments for rare inborn metabolic errors. We will also review the … disease pathophysiology, genetics and treatments for rare inborn metabolic errors. … disease pathophysiology, genetics and treatments for rare inborn metabolic errors. …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… suggests sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  … samples were deemed abnormal, 60 of which contained a rare trisomy. Trisomy 7 was observed most frequently in both … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… His primary areas of interest include the development and diseases of melanocytes, the cells responsible for … research interest are the genetics of pigmentation and its diseases and the lysosomal storage disease Niemann-Pick … via high-throughput screens, its Therapeutics for Rare and Neglected Diseases program to bridge the gaps …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of … WAGR syndrome is a rare genetic condition that can affect both boys and girls. … of Wilms' tumor have been detected by age 8 years, but in rare cases may occur later. Babies who are suspected to have …