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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 … 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 …
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 …
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.
… 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 …
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) are genetic tests sold directly to … of DTC-GT? 4–6 Figure 1: Timeline of direct-to-consumer genetic testing (DTC-GT). FDA = Food and Drug Administration; …
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, …
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 …
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 … Facial recognition software helps diagnose rare genetic disease …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, … Researchers study enhanced genetic animal model of Down syndrome …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made … have hemophilia B have low factor IX clotting activity. Genetic testing is also available for the factor VIII gene …