Search Results
Statement
NHGRI Director, Eric Green, M.D, Ph.D., provides remarks for the May 10, 2023 media briefing about the new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… stewardship at The Forefront of Genomics is enhancing the foundation used by researchers across the world for doing … years, represents a prototype project for enhancing that foundation. This project makes tremendous strides towards our …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… a collection of other NIH institutes and centers; and the Foundation for the NIH (which raised funds with additional …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… this sharing of information, the Cystic Fibrosis Foundation funds Cystic Fibrosis Foundation Therapeutics (CFFT) located at The University of … Information Genetics Home Reference Cystic Fibrosis Foundation Cystic Fibrosis: Your Genes, Your Health What is …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… the team initially collaborated with the Progeria Research Foundation to obtain connective tissue cells from progeria … the mutation in 90% of the cells. “The Progeria Research Foundation was thrilled to collaborate on this seminal study … a co-author and medical director of The Progeria Research Foundation, which partially funded the study. “These study …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… Inc. American Childhood Cancer Organization Aniridia Foundation International Aniridia Network International Friends of Cancer Research Glaucoma Research Foundation March of Dimes Birth Defects Foundation National Kidney Foundation National Wilms' Tumor …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund National Kidney Foundation ARPKD/CHF Alliance Urology Cure Foundation National Organization for Rare Disorders Genetic …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… p.m. Diana Bianchi, M.D., NHGRI, Panelist 2024 ACMG Foundation Awards and Presidential Plenary Session: Inquiry …
News Release
NHGRI will provide approximately $5.8 million over five years to create an educational hub for computational genomics and data science. The hub will provide new educational and research opportunities for students of diverse backgrounds, including those from groups historically underrepresented in the biomedical sciences.
… and master's degree level — to help students build a solid foundation in the field. The hub will use cloud computing …
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… and has been supported by NCI, the National Science Foundation and several private foundations. Dr. Klein …