Search Results
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Center Multiscale functional characterization of genomic variation in human developmental disorders HG011996 Hyejung … Brigham and Women's Hospital Predicting the impact of genetic variants, genes and pathways on human disease … function to influence phenotypes. NHGRI initiated a new program, the Impact of Genomic Variation on Function (IGVF) …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations.
… The ACMG/NIH Genomic Program Management Fellowship has been a deeply gratifying, … between fellows across clinical disciplines (PAs, NPs, genetic counselors) . In very simple words, you get to meet … working with researchers. I wanted to help improve genetic care and how we provide that care. What better place …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… The Big Picture  Genomic variation reflects the differences in a person’s DNA compared … comprehensive framework that aims to account for genomic variation across human populations, thereby reducing biases … goal is to have sufficient knowledge about genomic variation in all human populations, bringing equity in the …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… regulated in different tissues, and the role that genomic variation plays in modulating that expression. … An Atlas of … expression," explained Simona Volpi, Pharm.D., Ph.D., GTEx program director in the Division of Genomic Medicine at the … Joshua Michael Akey, Ph.D. Somatic mutations - genetic mutations that are not inherited, but instead occur …
Professional Development Programs
Provides exposure to the broader genomics community and experts in the field, with the opportunity to work on a genetics/genomics-related education projects under the mentorship of an ISCC-PEG member.
… Beeman, BS Ohio State University College of Medicine, Genetic Counseling Graduate Program, Columbus, OH Richard L. Haspel, M.D., Ph.D. Beth … Medical Center  Vanessa Smith, BS Master of Science, Genetic Counseling, Vanderbilt University, Nashville, TN …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… The Metropolitan D.C. Medical Genetics Program also offers new subspecialty training in a combined … a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… of the human genome that are associated with skin color variation in some African populations, opening new avenues … co-author of the study and senior investigator in the Genetic Disease Research Branch at NIH's National Human … Ph.D. , co-author and staff scientist also in NHGRI's Genetic Disease Research Branch. Read the Study Loci …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors. … of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors. … of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors. …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… The Laboratory Genetics and Genomics Fellowship Training Program is a two-year fellowship program that trains … to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. … To gain the requisite laboratory …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… Dr. Shchelochkov will work closely with other NIH training program leaders, in particular Melissa Merideth, M.D., M.P.H. … 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 …