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… risk of disease, identifying carriers and establishing prenatal and clinical diagnosis or prognosis.” Includes: Prenatal, newborn and carrier screening Testing in high risk families Excludes: Tests …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… genome sequencing has not been used for this screening. The recent advances in DNA sequencing technologies … interest in the use of genome sequencing as a newborn screening tool, but more research in this area was needed. … genome sequencing replicate or augment existing newborn screening methods? Would genome sequencing provide insights …
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… communication of genomic information, population genomic screening implementation, and utilization of … with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis . Genet Med … Sturm AC. A new agenda for implementing population genomic screening . Public Health Genomics . 2024 Jun 22. doi: …
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 …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… of adult participants in a population-based genomic screening program Board No. PB2180 Karen Wain Convention … Center, South Exhibit Hall 3:00 p.m. — 4:45 p.m. Prenatal, Perinatal, and Developmental Genetics Phenomic and …
Event
NHGRI and NICHD program staff will hold a pre-application interactive Q&A webinar for the Developmental Genotype-Tissue Expression Project funding opportunities and answer questions from prospective applicants.
… what set of questions should be asked. Would a plan to add prenatal tissue collection be appropriate? Not at this time. …
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 …
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 …
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, …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… over which genes are inactivated. As a result, targeted screening in a vertebrate is now possible for the first time, … 5-10 percent of zebrafish genes. In order to bias the screening towards genes of biological interest to …