Search Results
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, Healthcare … tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a … newborn screening is mandatory for a defined set of genetic diseases, although the exact set differs from state …
News Release
NHGRI has awarded the American Society of Human Genetics (ASHG) a five-year, $7.1 million contract to support a new Genomics and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of genomics careers.
… Program to support emerging genomics leaders in policy, education, communications and scientific program management. … to support a new Genomics and Public Service Fellowship Program, which will provide early-stage professionals with … in the education, communications, policy and scientific program areas. This new ASHG-NHGRI fellowship program will …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome …
Research Training
NHGRI funds training and career development programs at academic, medical and other institutions throughout the U.S.
… T32 Genome Science  Predoc Postdoc Institution Program Title Program Director(s) Program Support ✔  Harvard Medical School Training Program … T32 Genomic Medicine  Predoc Postdoc Institution Program Title Program Director(s) Program Support  ✔ Massachusetts General …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. … of these side effects, since all people are different. Genetic research is helping us figure out how individual …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network … undiagnosed and are of interest to this clinical research program. Thirty to thirty-five percent of applicants, who are … after acceptance in the UDP. The Undiagnosed Diseases Program pursues two goals: To provide answers to patients …
Professional Development Programs
JHU/NIH GCTP Executive Committee is composed of genetic counselors, social scientists and medical geneticists. Their varied backgrounds are an asset to the Program and to students as they develop their thesis.
… Health Research Joann Bodurtha, M.D., M.P.H. Institute of Genetic Medicine Johns Hopkins University Joann Bodurtha Professor of Genetic Medicine Johns Hopkins University Sarah Benjamin … Sc.M., CGC Associate Director, Genetic Counseling Training Program National Human Genome Research Institute, NIH Lori …
Event
NHGRI is hosting a pre-application webinar on September 3, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).
… of Pre-Application Webinars for the Impact of Genomic Variation on Function (IGVF) Consortium FOAs (RFA-HG-20-043, … RFA-HG-20-043 : Systematic Characterization of Genomic Variation on Genomic Function and Phenotype (UM1 Clinical … Date: November 5, 2020  RFA-HG-20-046 : Genomic Variation and Function Data and Administrative Coordinating …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… as a research group within NHGRI’s Intramural Research Program to foster the development of cutting edge genomic and … heritability from common diseases associated with common genetic variants to rare diseases associated with rare … a basic research level, in which investigators use genetic variation to identify pathways that can be targets for common …
Event
NHGRI is hosting a pre-application webinar on September 9, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).
… of Pre-Application Webinars for the Impact of Genomic Variation on Function (IGVF) Consortium FOAs (RFA-HG-20-043, … RFA-HG-20-043 : Systematic Characterization of Genomic Variation on Genomic Function and Phenotype (UM1 Clinical … Date: November 5, 2020  RFA-HG-20-046 : Genomic Variation and Function Data and Administrative Coordinating …