Search Results
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
… The Human Genome Project (HGP) is one of the greatest scientific feats in history. The project was a voyage of biological discovery led by an international group of … The Human Genome Project … The Human Genome Project was an inward voyage of discovery led by an international team of researchers …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or condition), when discussed in the context of genetics, reflects a disorder that results from the …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… and Introduction Eric Green 8:40 - 9:00 a.m. Statement of Meeting Goals Elise Feingold Adam Felsenfeld Part I: … the Stage Visions of the Future: What will the field of genomics look like in 5-10 years? How will it get there? 9:00 … Discovery and Interpretation of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Six new grants from the National Institutes of Health (NIH) will support researchers to develop new … genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. … disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… I had the pleasure of giving the opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long summit is designed … NHGRI ‘Genomics2020’ Strategic Planning events include the Genomics in Medicine & Health Strategic Planning Workshop on …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… compared to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to large … subset of genomic variants contributes to human health and disease.  Researchers create reference human genome … Genomics is constantly evolving and advancing, including the …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of the branch's research lies in understanding how … investigators use genetics and genomic approaches in both human and mouse systems to identify and better understand …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… severe health burdens on the world's poorest people. Many of these conditions are infectious diseases that are most … private pharmaceutical companies cannot recover the cost of developing and producing treatments for these diseases. … do not cause dramatic outbreaks that kill large numbers of people. Rather, such diseases usually exact their toll …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. … pressure as an adult. Learning about the health history of your family and sharing this information with your health …