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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 – … Nitisinone treatment Trial in Patients with Alkaptonuria Biochemical/Metabolic and Therapeutics March 14, 2024, 4:15 – … Recommendations for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … Poster Presentations …
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 …
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.
… National Wilms' Tumor Study National Eye Institute (NEI) 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.
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 …
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.
… vs behavioral traits)?  If there is a tight coupling of genetics and environment and potentially GxE effects, how … of Mendelian inheritance were early foci of human genetics that naturally emphasized family-based studies and …  Abdellaoui, Abdel Assistant Professor, Complex Trait Genetics Universiteit van Amsterdam  Adkins-Jackson, Paris …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… completing a combined residency in pediatrics and medical genetics at Mount Sinai Medical Center, he was awarded a fellowship in biochemical genetics from the American College of Medical … is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics. In 2010, Dr. McGuire moved to the …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National … the successful applicant will apply detailed molecular, biochemical, and cellular approaches to functionally evaluate … Description … Qualifications … How to Apply … Cancer Genetics and Comparative Genomics - SMAD2 … Postdoctoral …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National … the successful applicant will apply detailed molecular, biochemical and cellular approaches to functionally evaluate … Description … Qualifications … How to Apply … Cancer Genetics and Comparative Genomics - ALK2 … Postdoctoral …