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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 …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… Genetic Imprinting … In genomic imprinting the ability of a … upon the sex of the parent who passed on the gene. … Genetic Imprinting, DNA Sequence, Genes, Family Health … while the other copy is suppressed. Unlike genomic mutations that can affect the ability of inherited genes to …
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 … conditions on the world’s most vulnerable populations. … Genetic disorders, both monogenic and polygenic, contribute …
Jobs at NHGRI
NHGRI is seeking applicants for the position of Program Director (PD) of Laboratory Genetics and Genomics (LGG) Fellowship & Director of Genetics Education (DGE), which plays a critical role in leading and overseeing all aspects of our ACGME-accredited programs.
… and certification; (3) work closely with clinicians, genetic counselors, staff scientists, and others to advance … and consultations to enhance their understanding of genetic factors in various disease processes and empower them … manage patients and participants with potential genetic involvement. For PhD candidates with ABMGG Board …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene. Genetic testing can identify mutations in 99 percent of individuals who have …
EDUCATION
The Talking Glossary features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute.
… Loading... … Talking Glossary of Genomic and Genetic Terms … The Talking Glossary features more than 250 common genetic terms pronounced and explained in an … … The Talking Glossary features more than 250 common genetic terms pronounced and explained in an …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular … Program, Training Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to genetic conditions that range from common to ultra-rare, …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… wet period of the Sahara. 3. We identified a new set of 27 genetic variants inherited with the sickle allele that may …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Content … Facial recognition software helps diagnose rare genetic disease … NHGRI researchers have successfully used …