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Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of … that research findings and opportunities derived from genetic and genomic technologies may be translated into … and clinical research, bringing the latest genomic and genetic technologies to the study of human disease. Our …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, … cord, nerves and skin. … Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, … the mutation analysis does not provide enough conclusive information. With at linkage analysis, blood tests from …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … or no apparent trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break … by a medical team including the child's own doctor, and genetic, orthopedic and rehabilitation medicine. Supportive …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding Reliable Health Information Online …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits?  Advances in sequencing … and environmental effects interact to affect traits in non-trivial ways. How do we advance our understanding of … Associate Professor, Cognitive & Information Science University of California, Merced  …
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.
… Wilson disease is a rare genetic condition that causes a person's body to store too … damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… a global understanding of the relationship between human genetic variation and population differences in disease … health disparities. Its investigators will develop genetic epidemiology models that will explore the patterns … … CRGGH does not keep names and e-mail addresses. This information is only used to respond to questions and then is …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… gastric cancers. They also study the relationship between genetic variation and cancer progression and pursue the … primary focus of CGCGB investigators is to identify the genetic contribution to the processes of cancer … genomes. Specifically, the program: Focuses on finding genetic relationships between regions of the human genome and …
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.
… an informed public. Establishing how best to advance genetic and genomic literacy is a major challenge. No one … Legislative Branch; and experience working at ASHG in the non-profit science advocacy sector. This variety of … human genetics and genomics research community. For more information on ASHG, visit their website . …  NHGRI is …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… - Break 4:10 PM – Session 5: Computational Tools to Enable Genetic Diagnoses Moderator: Chris Wellington, NHGRI 4:10 PM … much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the … Drive … Identifying Research Priorities to Accelerate Genetic Diagnosis … NHGRI is hosting a workshop - Identifying …