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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 …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… 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. …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes, centers, and offices (ICOs) on the investigator-initiated ELSI Research Grants (R01, R21, R03). Program Officer(s) contact information is also included for each ICO.
… clinical workflows, practice patterns, public health screening, surveillance). May include perceptions, … interest. Use of genomic and other omics technologies for screening and/or diagnostic purposes and the implications of … the impact on family members, especially from prenatal, newborn, or pediatric sequencing. Research on human genetic …
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.