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About Genomics
An interactive timeline listing key moments from the history of the project.
… Completed in April 2003, the Human Genome Project gave us the ability to read nature's complete genetic blueprint for a human. This interactive timeline lists key moments from … and address the implications for individuals and society of mapping and sequencing the human genome.   1990 …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may … analysis to all chromosomes allowed us to identify risk for serious complications and potentially reduce … Prenatal Genomics and Therapy Section at NIH's National Human Genome Research Institute (NHGRI). Dr. Bianchi is also …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… the disease has not been extensively described. As for the childhood form of Tay-Sachs, there is no cure. … results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of … carrier. Eastern European (Ashkenazi) Jews at Greater Risk for Tay-Sachs Disease: While anyone can be a carrier of …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … Research Center and the University of Virginia Center for Public Health Genomics, Charlottesville. Dr. Williams, … Genetics. The investigators were supported by the National Human Genome Research Institute (NHGRI) Genomics and …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… GMO (short for “genetically modified organism”) is a plant, animal or … GMO (short for “genetically modified organism”) is a plant, animal or … GMOs may be used for a variety of purposes, such as making human insulin, producing fermented beverages and developing …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… condition. This means that many people with ADPKD live for decades without developing symptoms of renal functional … or MRI studies of the kidneys. The diagnostic criteria for individuals who have a 50 percent risk of developing … through diet and blood pressure control. Genetic testing for PDK1 and PDK2 is also available for prenatal diagnosis …
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.
… syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental disability. … syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental disability. The term "WAGR" stands for the first letters of the physical and mental problems …
Staff
Joy Boyer was a program director in NHGRI's Division of Genomics and Society.
… Joy Boyer has been a program official with the National Human Genome Research Institute (NHGRI) Ethical, Legal and … a program director in the NHGRI Division of Genomics and Society, Joy oversees a portfolio of research, training and … Research (CEER) consortium and is the principal contact for ELSI Training grants (T32) program. She also participates …
Staff
Dr. Nicole Lockhart is a program director in NHGRI's Division of Genomics and Society.
… 2012 as a program director in the Division of Genomics and Society. Dr. Lockhart oversees a portfolio of research and … Group , a working group of the National Advisory Council for Human Genome Research. She participates in a variety of … is in biology and physiology. She also served as an American Association for the Advancement of Science (AAAS) …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… determine what you look like and what your risk might be for various diseases. But your genome doesn't entirely define you. Well before the completion of the Human Genome Project, researchers began developing tools to … people. When scientists agreed to use the one "reference" human genome sequence generated by the Human Genome Project …