Search Results
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 … over time. They obtained testing for a number of known genetic conditions , but Bertrand did not have any of them. …
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, … disease. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in …
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 …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate … iron absorption. … Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate … or alcoholism. … Hemochromatosis is one of the few genetic diseases for which there is a relatively simple and …
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 …
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 … atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals  What is direct-to-consumer genetic testing?  Direct-to-consumer genetic tests (DTC-GT) … information about their genetic information (generally ancestry, some health traits and health risks) from a saliva …
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
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology from …