Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… of North Carolina at Chapel Hill Age-Based Genomic Screening in Newborns, Infants and Children: A Novel Paradigm … of Emerging Genomic Tests for Disease Management and Screening Marc S. Williams Geisinger Clinic Real-Time Genetic … Screen for Treatable Disorders Not Amenable to Current Screening **Catherine Astrid Brownstein Boston Children's …
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 2024.
… Blood Pressure" Riggan et al. – "Patient Experiences with Prenatal Cell-Free DNA Screening in a Safety Net Setting" 26 Knockout Mouse …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… or whether to have a fetus tested for thalassemia. Prenatal testing can be done around the 11th week of …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… function using bulk and single-cell CRISPR-interference screening and base editing. Thouis Ray Jones, Broad …
File
… GMXV - APOL1 Screening: Opportunities, Lessons Learned and Evidence to Support Screening (Carol Horowitz) …
News Release
DNA Day Reddit “Ask Me Anything” prompts rousing discussion.
… there are other ways to address genetic diseases in the prenatal setting, such as IVF [in-vitro fertilization] with … about possible responsible uses for CRISPR in the prenatal setting. For example, in the case of rare, …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… genomic information in everyday life - from non-invasive prenatal genetic testing to the increasing availability of …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… occur in populations thought not to be at high risk. Prenatal testing for Tay-Sachs can be performed around the …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… who attended the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. … component projects specifically applicable to newborn screening: Acquisition and analysis of genomic datasets that … of specific disorders identifiable via newborn screening through promising new DNA-based analysis. Research …
News Release
NIH scientists proposed a new approach for finding ways to impede or halt cancer's spread: transgenic zebrafish as a live animal model of metastasis.
… identify new genetic targets against the disease. Current screening of possible anti-metastasis compounds is based on … cell lines in laboratory dishes. Such high-throughput screening has identified thousands of drug candidates over … to generally practiced forms of high- throughput screening," he said. In the current study, Dr. Gallardo and …