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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.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics … Dietary Determinates of Outcomes in Purine and Pyrimidine Metabolism Disorders P127 Where Epigenetics, Cancer and …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
… Joan E. Bailey-Wilson, Ph.D. has been on the faculty of the National Human Genome Research Institute, National Institutes of Health since 1995. Her research program focuses on … from Indiana University in 1981 under the direction of Joe C. Christian, M.D., Ph.D. She then completed …
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… as a program director in 2019. He manages a portfolio of grants focused upon genomic data sciences, and is … through the C.W. Cotterman Award from the American Society of Human Genetics in 2014. Between 2016-2019, he served as … Trinchieri G, Greten TF. Gut microbiome-mediated bile acid metabolism regulates liver cancer via NKT cells. Science . …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… (JCVI) as a bioinformatics engineer under the supervision of Dr. Granger Sutton. During his three years at JCVI, he … on top of each other, and leads to both data loss and errors in analysis. To mitigate these issues, the first step … of previously invisible human genomic regions, corrected errors in the current reference, and led to the first truly …
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.
… The NIH Metabolism, Infection and Immunity (MINI) Section invites … the Post COVID-19 Vaccine Registry . … The purpose of this registry is to better understand the side effects and … bearing on your relationship with the National Institutes of Health. We will present and publish the aggregate survey …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
… milestones over the last 20 years. Check out one of those milestones - of great pride for genomicists - about 20 seconds into the … Charles Rotimi, were elected  into the National Academy of Medicine. All the best, … NHGRI has released a notice …
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
… by cells to metabolize glucose, the body's main source of chemical energy. Type I diabetes, also called … mellitus, is usually caused by an autoimmune destruction of insulin-producing cells. Type II diabetes, also called … occurs when cells become resistant to the effects of insulin. … Diabetes mellitus is a disease characterized by …
File
… OO , Okunola O , Alli O . Genetics Section - ‘Types of Inheritance’, ‘Autosomal Inheritance’, ‘Diagnosis of … Pr evalence and Carrier Frequency of Autosomal Recessive Inborn Errors of Metabolism in India from Publicly Available Next …
Educational Resources
A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
… Line, Gene … A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during cell division, exposure to …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… Categories for the notable accomplishments of research are defined (below) as research that uses … a need for broader research for the systematic uptake of genomic research findings and other evidence-based … into routine practice. Systematic Implementation Uptake of genomics into patients’ medical care with definition and …