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Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… rare diseases. Other researchers are studying its use in screening newborns for disease and disease risk. Moreover, …
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.
… The eye problems (aniridia) are usually noticed in the newborn period, and for infant boys, the problems with the … and urinary systems are also usually obvious in the newborn period. Individuals born with WAGR syndrome are at …
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 September 2019.
… Exploratory Research (CSER) Consortium Studies 22 Newborn Sequencing In Genomic Medicine and Public HealTh …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… born in the United States are diagnosed with MMA during newborn screenings. Currently, MMA is incurable, but people …
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 …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… and Public Liaison Branch … From prenatal genetic screening to the genetic testing of women with family …
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 …
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
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 …