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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… Prabarna Ganguly, Ph.D. … Researchers show critical association between diabetes and previously unlinked ZRANB3 … results for many of the variants which other research studies have already implicated in T2D in mostly European … populations. The work was funded by the National Human Genome Research Institute (NHGRI), the National Institute of …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… The study, led in part by scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, will inform future studies on the early detection and treatment of diabetes. The … and senior author of the study. “The majority of prior studies have been in rodents or in islet-like groups of cells …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… Disease, Type C1. His preclinical proof-of-principal studies using MMA murine models have helped enable two … mRNA therapy and the other, AAV-mediated nuclease-free genome editing. In addition, he is a member of NCATS’s … gene therapy approaches, such as AAV gene delivery, genome editing, and mRNA therapy, to cure rare genetic …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Burgess, Ph.D., senior investigator in the National Human Genome Research Institute’s (NHGRI) Translational and … had to look at the enhancer sequences within the zebrafish genome. If transcription factors are thought of as the keys … The study, led by investigators at the National Human Genome Research Institute (NHGRI), may inform the development …
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.
… Development, senior investigator in the National Human Genome Research Institute (NHGRI) Center for Precision Health … copy of over 200 protein-coding genes to that person’s genome, which causes difficulties with learning, speech and … standard for Down syndrome research, used in preclinical studies for nearly 30 years. Along with some successful …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. … Ph.D., a genetic counselor at the National Human Genome Research Institute’s (NHGRI) Reverse Phenotyping Core … more than 16,000 research participants who have undergone genome or exome sequencing. Exome and genome sequencing data …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… ethical responsibilities, as information about a person's genome sequence is associated with complex issues related to … about how they will use and share the resulting genome-sequence data in the process of gaining such informed … must be educated about the implications of their studies and work closely with ethics researchers. … How do …
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… Prabarna Ganguly, Ph.D. … The National Human Genome Research Institute (NHGRI) has appointed Chris Gunter, … She will be a valued advisor to me across a wide range of areas of ongoing and potential future institute …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… the 20th anniversary of the completion of the Human Genome Project, and the 20th anniversary of National DNA Day. … will focus on advances in single-cell analysis and genome-wide regulatory mechanisms. Each session will be followed by … the rapid increase in the number of published genome-wide association studies (GWAS). These studies provide an …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Buffalo … Biographies … Slides (PDF) … The National Human Genome Research Institute (NHGRI) and The State University of New York at Buffalo Center for Disability Studies will hold a two-day symposium entitled, “Irreducible … NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to …