Search Results
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics Home Reference: Neurofibromatosis Type 2 Children's …
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 …
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 …
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.
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 … biology. … Overview … Our Mission … Branch Staff … Cancer Genetics and Comparative Genomics Branch … The Cancer …
Talking Glossary
Data science involves the study of large, complex data sets that arise from various types of research projects.
… Data Science … 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 … biostatistics. … 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.
… gaps and opportunities for developing solutions to this complex issue. … Hybrid: Zoom Webinar (Requires Registration) …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… the field of genomics.  …  The American Society of Human Genetics (ASHG) , a professional organization of over 8,000 human genetics and genomics specialists, has established a new … the Society’s achievements and how it could better serve genetics and genomics research and the broader scientific …
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… Congress in the 1990s at a time when genetic testing and genetics research was taking off at breakneck speed. GINA … diagnose a disease, or they might refuse to participate in genetics research. H.R. 2748 would prohibit insurance … protections against employment discrimination based on genetics. More on that later!  1996 Sen. Olympia Snowe …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – … Primary Care Electronic Medical Record Features Predicting Genetics Referrals P224 Using long-read sequencing for … of the Association of Professors of Human and Medical Genetics Updated Core Competencies for Medical School P848 …