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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.
… 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 …
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.
… program director in 2019 and manages a portfolio of grants at the intersection of data science and genomics. Apart from a wide-ranging … Dr. Sen also has a major role in promoting the convergence of genomics and artificial intelligence research, as a leader … clinical, and bioethics research at the intersection of machine learning and genomics. Cell Genom . 2024 Jan 10; …
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. …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a … The UDP is part of the Undiagnosed Diseases Network , which brings together … was published February 1 in Genomics in Medicine . "One of our goals was to improve upon the 25 percent diagnosis …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… genetics from Indiana University under the direction of P. Michael Conneally, Ph.D., (1980) and did his … genetics with Robert C. Elston, Ph.D., in the Department of Biometry, Louisiana State University Medical Center … remained at Louisiana State University, rising to the rank of tenured Full Professor in 1993. He was recruited to the …
Policy Issues
Participar en una investigación genómica es una oportunidad para apoyar la exploración científica del genoma.
… los Institutos Nacionales de la Salud (National Institutes of Health, NIH) en su misión de entender, prevenir, detectar …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Human Genome Research Institute have developed a number of software and analysis tools to help researchers around the … for NextGen sequencing data. BuddySuite A collection of four independent, yet interrelated, command line programs … ad-hoc alternative to replication that can reduce type I errors for GWA studies when appropriate replication data are …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… working with patients and families to better understand of how genes can cause or influence diseases and develop new … Clinical studies give us a better understanding of how genes can cause or influence diseases. NHGRI … working with patients, and with families with a history of inherited diseases, to learn more about the genetic …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… genomic condition measures disease severity and success of liver transplantation for patients. … Researchers at the National Institutes of Health have developed a breath test that measures how well … “Instead of looking at levels, we decided to measure metabolism itself.” Vast fluctuations in metabolic substances …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of mitochondria, the cells' energy powerhouses. The study, … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, was published December …