Search Results
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 …
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, …
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 …
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 …
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
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 …
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. …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Pennsylvania 1:20 p.m. to 1:40 p.m. — Making Disability in Prenatal Genetic Testing Meghna Mukherjee, University of …
File
… GMXV - APOL1 Screening: Opportunities, Lessons Learned and Evidence to Support Screening (Carol Horowitz) …