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Event
We invite scholars to submit ideas to be one of six to seven speakers at our symposium, “Irreducible Subjects: Disability and Genomics in the Past, Present, and Future”, with an additional opportunity to join a collected set of papers on the same theme.
… of this must be balanced with clear evidence that prenatal screening, newborn genome sequencing, clinical genomic diagnosis, … and bioethics Medical education Genetic testing or screening (clinical and popular), and the complex legacies of …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2019.
… Website 22 Implementing GeNomics In pracTicE (IGNITE) 23 Newborn Sequencing In Genomic Medicine and Public HealTh … Prior to Morphogenesis Rubin – Coupled Single-Cell CRISPR Screening and Epigenomic Profiling Reveals Causal Gene …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2019.
… Trials - Coordinating Center (U01) RFA-HG-17-010 26 Newborn Sequencing in Genomic Medicine and Public HealTh … of Genes Required for Eye Development by High-Throughput Screening of Mouse Knockouts 34 Gabriella Miller Kids First …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… with the goal of advancing noninvasive prenatal DNA screening and diagnosis and investigating the fetal … of her research and contributions to genetics and newborn care. The 2017 J.E. Wallace Sterling Lifetime … prenatal testing (NIPT) - has revolutionized prenatal screening and diagnosis for fetal chromosome abnormalities. …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… Project (modENCODE) Molecular Libraries Program (MLP) Newborn Sequencing in Genomic Medicine and Public Health …
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. [ …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… EHOD Collaboration Martina Huemer, M.D. 1:30 - 2:00 p.m. Newborn Screening for HCU Marzia Pasquali, Ph.D. 2:00 - 2:30 p.m. …
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 …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… BD. Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. Genet Med . 19(12):1367-1375. doi: … BD. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 …