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Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… anemia and cystic fibrosis are inherited in families, what screening and testing options are available, and, for some …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… advocacy groups to identify how information from this screening can better help patients prepare, identifying …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… on individual health outcomes, including lifestyle and screening behaviors. One of the section's major findings is … LM. Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion …
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 …
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 …
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.
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 …