Search Results
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
… function using bulk and single-cell CRISPR-interference screening and base editing.  Thouis Ray Jones, Broad …
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
Sickle cell disease is a group of inherited red blood cells disorders.
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 …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… a continuum of excellence in care from fetal to newborn periods. They will also develop expertise on the most …
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 …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… the tools and programs necessary to implement universal screening for newborn hearing loss. Over the years, Jim has also been an …
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 …
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) …