Search Results
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… BD. Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn . Genet Med . 19(12):1367-1375. doi: … BD. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… they would normally be via surgical interventions in the newborn period. Individuals who have low calcium levels are …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… Lewis Return of research results from samples obtained for newborn screening R21 University of California, San Francisco Gloria …
File
… UCSF San Francisco, CA BWH, BCH, and BCM Boston, MA Newborn Sequencing In Genomic medicine and public H ealTh … Mercy San Diego, CA UNC –Chapel Hill Chapel Hill, NC Newborn Sequencing Questions For disorders currently screened … can genomic sequencing replicate or augment known newborn screening results? What knowledge about conditions not …
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 …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… studying how family members communicate about prenatal and newborn screening, including how test results and risks are …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… The cat-like cry is the most prominent clinical feature in newborn children and is usually diagnostic for the cri du …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… Project (HGP) and, more recently, advances in genomic screening technologies, there is some concern about whether … genetic diagnoses. The possible genomic-based screening of embryos for behavioral, psychosocial and/or … certain individuals. Some geneticists view both genomic screening and genetic counseling as an extension of eugenics. …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… What not to expect when expecting: when prenatal screening suggests cancer December 4, 2024 A new kind of …