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News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… a genome sequence at the click of a mouse, performing newborn genome sequencing in an intensive care unit or the … a genome sequence at the click of a mouse, performing newborn genome sequencing in an intensive care unit or the …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… P.J., Sunny, S., Cohen-Pfeffer, J.L., Yu, C., Caggana, M. Newborn screening and early biochemical follow-up in combined … cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab , 99:116-123 . 2010. [ …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Asian, Chinese and Filipino ancestry, results in fetal or newborn death. A child who inherits two copies of the mutated …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… a continuum of excellence in care from fetal to newborn periods. They will also develop expertise on the most …
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
… function using bulk and single-cell CRISPR-interference screening and base editing.  Thouis Ray Jones, Broad …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… anemia and cystic fibrosis are inherited in families, what screening and testing options are available, and, for some …
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.
… advocacy groups to identify how information from this screening can better help patients prepare, identifying …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… on individual health outcomes, including lifestyle and screening behaviors. One of the section's major findings is … LM. Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion …