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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. …
File
… GMXV - APOL1 Screening: Opportunities, Lessons Learned and Evidence to Support Screening (Carol Horowitz) …
File
… Reproductive Prenatal Neonatal Health Workshop - Meeting Summary …
File
… Reproductive Prenatal Neonatal Health Workshop - Executive Summary …
File
… 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 …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… and to diagnose hemophilia in a fetus during a pregnancy (prenatal diagnosis). It is sometimes used to diagnose …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Genetic testing for PDK1 and PDK2 is also available for prenatal diagnosis and preimplantation genetic diagnosis. …