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 …
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 …
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.
File
… GMXV - APOL1 Screening: Opportunities, Lessons Learned and Evidence to Support Screening (Carol Horowitz) …
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 …
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 …
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 …
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 …
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 …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a …