Search Results
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 …
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 …
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 …
Research Funding
The Human Genome Reference Program (HGRP) maintains and updates the human genome reference and provides it to the scientific community.
… the genomics community. The NHGRI Human Genome Reference Program (HGRP) provides funding for efforts to maintain and … ideally will faithfully represent human haplotype variation that exists worldwide and whose frequencies vary … in differences across populations in the ability to detect variation, which could lead to health disparities. For more …
Research Funding
Fosters basic and applied research on the ethical, legal and social implications of genetic and genomic research. ​
… Since its creation in 1990, the ELSI Research Program has supported a large body of research on a wide … the generation, interpretation, understanding and use of genetic and genomic information and associated technologies. … that arise in connection with the design and conduct of genetic and genomic research.  Genomic Healthcare These …
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 …
Educational Resources
Crossing over is the swapping of genetic material that occurs in the germ line.
… Crossing over is the swapping of genetic material that occurs in the germ line. … Genetic Material, Chromosomes, Meiosis, DNA Sequences, Genetic Variation, Germ Line … the gametes (egg or sperm) formed, which ensures genomic variation in any offspring produced. … Crossing over is the swapping of genetic material that occurs in the germ line. …