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Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… communication of genomic information, population genomic screening implementation, and utilization of … with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis . Genet Med … Sturm AC. A new agenda for implementing population genomic screening . Public Health Genomics . 2024 Jun 22. doi: …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… grants and contracts comprising the Hunter Kelly Newborn Screening Research Program and was a Project Scientist for … … Minear MA , Phillips MN, Kau A, Parisi MA. Newborn screening research sponsored by the NIH: From diagnostic … Allyse MA. Informed decision-making about prenatal cfDNA screening: An assessment of written materials . Ethics Med …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… 12-13, 2024 Genomic Medicine XV: Genomics and Population Screening November 8-9, 2023 Genomic Medicine XIV: Genomic … Expiration Date: February 12, 2025 2024 Population Genomic Screening in Primary Care Cooperative Agreement (U01 - … 2024 Expiration Date: December 03, 2024 Population Genomic Screening in Primary Care Cooperative Agreement (U01 - …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including … and targeted biomarker analyses, and a new Model Organisms Screening Center increasing the zebrafish modeling capacity … Research Cores (genomic sequencing, model organisms screening center, metabolomic and proteomic analysis, etc.) …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Petcharat Leoyklang Cell-based functional assays for screening of drug candidates for Free Sialic Acid Storage …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… stops making and/or stops responding to insulin, causing high blood sugar levels. Over time, high blood sugar levels can damage organs and lead to … BEAN refines an existing approach called base editing screening, in which researchers create and study the …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… interested in research that relates to the Institute’s high-priority research areas: see the current research … access to gene therapies. Genomic sequencing and newborn screening: Real and perceived benefits and harms of genomic … and developmental disabilities, youth affected by or at high risk of HIV and/or other infectious diseases). Research …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… biomarker analyses, as well as a new Model Organisms Screening Center at Washington University in St. Louis … core at Baylor College of Medicine and the model organism screening center at Baylor College of Medicine and the … collaboration and supports a series of exceptionally high-impact, trans-NIH programs. Common Fund programs are …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… ordeal. What followed the next day was an eye infection, a high fever and rash; then a downward spiral with severe … up empty In 2014, Thai researchers reported that they were screening patients in the hospital for risky genetic variants … defined for specific drugs, then those could be used as a screening mechanism before an individual is exposed to a …