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Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
…  Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Additional Resources for Cystic Fibrosis Information Genetics Home Reference Cystic Fibrosis Foundation Cystic … Fibrosis: Your Genes, Your Health What is Cystic Fibrosis? Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… and treatment strategies. Dr. Brooks applies Mendelian and complex genetics approaches to studying uveal coloboma in patients. … result in hypomorphic allelels in mouse and human. PloS Genetics , 6(3):e1000870. 2010. [ PubMed ] Nichols L, Alur … Brian Brooks, congenital malformation, Mendelian genetics, complex genetics …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between the American Society of Human Genetics (ASHG) and the National Human Genome Research … scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify … studies. In summary, the scientists of the Cancer Genetics and Comparative Genomics Branch work in a highly … Cancer Genetics and Comparative Genomics Branch … The Cancer Genetics and Comparative Genomics Branch identifies and study …
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… improve our understanding of hidden patterns in large and complex genomics data sets from basic and clinical research … and processes used by humans to analyze and interpret complex scenarios. The field of AI is a dynamic one, and … a launchpad for the widespread adoption of AI in tackling complex biomedical and precision medicine challenges. Apart …
Talking Glossary
Data science involves the study of large, complex data sets that arise from various types of research projects.
… Data science involves the study of large, complex data sets that arise from various types of research … Data science involves the study of large, complex data sets that arise from various types of research … Data science involves the study of large, complex data sets that arise from various types of research …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… of Pennsylvania 12:00 PM - Lunch 1:00 PM – Session 3: Genetics, it’s Complicated Moderator: Jennifer Troyer, NHGRI … gaps and opportunities for developing solutions to this complex issue. Executive Summary (PDF) …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… July 2024 DNA Science and Human Genetics Lawrence Brody, Ph.D. National Human Genome … The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between the American Society of Human Genetics (ASHG) and the National Human Genome Research …