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Educational Resources
A sex chromosome is a type of chromosome that participates in sex determination.
… a type of chromosome involved in sex determination. Humans and most other mammals have two sex chromosomes, X and Y, that in combination determine the sex of an … two X chromosomes in their cells, while males have one X and one Y. …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… have shown that African populations contain the oldest and most diverse set of human genes. However, most studies of … Five years after the program's first grants were awarded, researchers are building collaborative research networks, … has not been without itschallenges. Language barriers, consent concerns Language, culture and the education level of …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… questions about what information they should disclose, and to whom, when genome sequencing uncovers signs of … for disease in patients who are too young to give informed consent. … new interventions, and the training and mentoring of new researchers. For more information about cancer, please visit …
Policies and Guidance
Broad data sharing promotes maximum public benefit from federally funded genomics research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely accessible data repositories. These repositories may be open access (unrestricted) or, if more appropriate, controlled access.
… human data to use data generated from sources with participant consent for unrestricted access or for General Research Uses … all data types. However, at this time the NIH GDS Policy and NHGRI implementation plans apply particularly to single … should refer to specific instructions for NHGRI forms and submitting plans on the NHGRI Intranet's Genomic Data …
News Release
NIH issues a notice seeking public comment on a proposed update to the data management of genomic summary results under the NIH Genomic Data Sharing Policy.
… Communication and Public Liaison Branch … of Health (NIH) issued a notice in its Guide to Grants and Contracts seeking public comment on a proposed update to … help support NIH's goals to promote scientific advances and protect research participants' privacy interests by …
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
… Researchers at NIH's National Human Genome Research Institute (NHGRI) and their colleagues* are calling for health disparities … health outcomes that impact certain groups of people - and the microbiome - the microorganisms that live in and on … differences in health hasn't been fully explored, nor are researchers yet capturing necessary information about the …
News Release
NIH Center for Research on Genomics and Global Health is participating in the H3Africa Consortium's effort to develop an African-specific genotyping array.
… Researchers have made a good start in identifying and understanding genetic mutations that have evolved over … can increase the risk of other diseases in Africans and people of African descent. Mutations in the gene APOL1 , … risk factors for disease have focused on Europeans. Researchers have made some progress in understanding the …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Genomic Screening across Diverse Populations and Settings (FOCUS) Lisa Bastarache Douglas Ruderfer … Wangler Baylor College of Medicine Genomic Medicine and Gene Function Implementation for an Underserved … Hill Age-Based Genomic Screening in Newborns, Infants and Children: A Novel Paradigm in Public Health Genomics Sean …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse systems to …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home … goal of this study is to compare biomarkers like genetic and immune differences in individuals with mitochondrial … will use the clinical information, questionnaire responses and samples of people with mitochondrial disease for our main …