Search Results
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
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.
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 …
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 …
File
… GMXV - APOL1 Screening: Opportunities, Lessons Learned and Evidence to Support Screening (Carol Horowitz) …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… a fact that stands in stark contrast to the practice of screening all U.S. newborns for MMA. Because these disorders …
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 …
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 …
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 …