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The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… past few months, NHGRI staff will continue pursuing our genomics-driven mission, whether working remotely from home … This included gathering input from the genomics community about successful programs and strategies in this area as well … a better understanding of human biology and new insights about human health and disease.  On that day 20 years ago, …
News Release
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… mountains of Sardinia, Italy, and discovered in it clues about the migration of humans to the area. (A genome is an … Ph.D., chief of NHGRI's Cancer Genetics and Comparative Genomics Branch . "Understanding the geographical origins of … isolated groups, adding it to a growing body of research about dogs. For years, Dr. Ostrander and other researchers …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… Reliable Health Information Online … What do we know about heredity and colon cancer? … Is there a test for hereditary colon cancer? … About Colon Cancer … Colon cancer is a malignant tumor of the …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… Bruce Agnew … Although many doctors are wary about discussing weight loss with their overweight patients - … be a downside, of course. Healthcare providers who discuss genomics and behavioral risk factors with overweight mothers … was controlled by a research assistant and took no questions.) Afterward, participants completed a post-test …
Educational Resources
NHGRI educates students, teachers and the public about genomics through outreach events and hands-on activities.
… (NHGRI) aims to educate students, teachers, and the public about genomics through participation in outreach events and … Institute educates students, teachers and the public about genomics through outreach events and hands-on …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… for a small fraction of breast cancers. In Learning About the BRCAX Study , researchers discuss a recent advance … mutation." Positive test results only provide information about the risk of developing breast cancer. The test cannot … effective in preventing breast cancer. … What do we know about heredity and breast cancer? … What do we know about …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… vision and compensate for improper turning of the eyes. In about 80 percent of cases of DS, only one eye is affected, … the reverse occurs when looking outward toward the ear. About 78 percent of all DS cases are Type 1. Type 2: The … the eyeball pulls in when looking inward toward the nose. About 7 percent of all DS cases are Type 2. Type 3: The …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… cardiofacial syndrome. As a result of this deletion, about 30 genes are generally absent from this chromosome. VCFS affects about 1 in 4,000 newborns. VCFS may affect more individuals, … often have learning difficulties and developmental delays. About 65 percent of individuals with the 22q11.2 deletion are …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… from each of his/her parents. Gaucher disease occurs in about 1 in 50,000 to 1 in 100,000 individuals in the general … Head of the Molecular Neurogenetics Section. Information about Dr. Sidransky's research on Gaucher disease can be … for Gaucher disease? … Is Gaucher disease inherited? … About Gaucher Disease … Gaucher disease is an autosomal …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… … Wilson disease is a rare genetic condition that affects about one in 30,000 people. Wilson disease causes a person's … who show signs of neurologic damage. They are found in about half of people who have only signs of liver damage. … taken back up by the central nervous system. In addition, about one-quarter to one-third of people treated with …