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Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… - Break 4:10 PM – Session 5: Computational Tools to Enable Genetic Diagnoses Moderator: Chris Wellington, NHGRI 4:10 PM … much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the … Drive … Identifying Research Priorities to Accelerate Genetic Diagnosis … NHGRI is hosting a workshop - Identifying …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… countries address their public health challenges in genetic diseases. This will ultimately help build healthier … medicine worldwide, as it provided new insights into the genetic contributions to disease. Many scientists and … clinical practice. Integrate accurate genetic and genomic information, and its related technologies in clinical …
Jobs at NHGRI
NHGRI is seeking exceptional candidates for the position of Genetic Epidemiologist in the Division of Genomic Medicine (DGM). The division focuses on understanding how genomics contributes to human health and disease and how this knowledge can translate into improving the diagnosis, treatment, and prevention of disease.
… is seeking exceptional candidates for the position of Genetic Epidemiologist, Division of Genomic Medicine (DGM). … for this position will be based solely on merit, with no discrimination for non-merit reasons such as race, color, religion, gender, …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Severe Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe Combined … white blood cells of two young girls to compensate for the genetic mutation. These pioneering patients are still alive … by chemical messengers called cytokines, transmits information that directs lymphocytes to mature, proliferate …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… curriculum vitae, cover letter, and names and contact information for three referees to Dr. Daphne W. Bell at …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… curriculum vitae, cover letter, and names and contact information for three referees to Dr. Daphne W. Bell at …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even … efforts sometimes shrink the path for establishing the genetic basis for a rare condition from decades (and … not a PRNP  mutation will lead to certain symptoms. This information opens up more questions, but it also points to …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… called UNITE . I encourage you to respond to a Request for Information (RFI) inviting feedback on the approaches NIH can … function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will … in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, … Testing Program . Additional Resources for Progeria Information NIH Fact Sheet: Progeria Medline Plus: Progeria …