Search Results
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 …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… loss. Some people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an organ in the lower … 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. Having an extra number 21 chromosome …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… particular person. This new field combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics. … Pharmacogenomics uses … particular person. This new field combines the science of how drugs work, called pharmacology, with the science of …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… the process that replicates and then divides up the pairs of chromosomes during cell division, resulting in the inheritance of an extra full or partial copy of chromosome 21 from a parent. This extra chromosomal DNA …
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… Dr. Adam Phillippy is the director of the Center for Genomics and Data Science research and head of the Genome Informatics Section at the National Human … and applies computational methods for the analysis of massive genomics datasets, focusing on the challenges of …
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 …
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing
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… decades, but the conversation about the science and ethics of genome editing has grown louder due to faster, cheaper, … the popular media tends to focus on the potential use of genome editing in humans, the main application of this technology has been in basic research. Editing the …
Policy Issues
Participar en una investigación genómica es una oportunidad para apoyar la exploración cientÃfica del genoma.
… los Institutos Nacionales de la Salud (National Institutes of Health, NIH) en su misión de entender, prevenir, detectar …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism … Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells. … Mosaicism refers to the presence of cells in a person that have a different genome from the … genomic variant, for example, or the addition or loss of a chromosome. The condition can stem from a genetic error …