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Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of a condition caused by numerical abnormalities is Down syndrome, which is marked by mental disability, learning … muscle tone (hypotonia) in infancy. An individual with Down syndrome has three copies of chromosome 21 rather than …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… conditions. These tests, however, typically focus only on Down syndrome and other common trisomies. A trisomy is a condition … and potentially reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… … Publications and Patents … News and Events … Driving down the cost of sequencing by developing new methods. … …
The Genomics Landscape
In the November 4, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how NHGRI researchers are emphasizing the need for diversity in genomics.
… the announcement by Francis Collins that he will stepping down as NIH Director by the end of the year. Francis is the … with disabilities NIH & NHGRI News Francis Collins to step down as director of the National Institutes of Health NIH, …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… fetus is at heightened risk for genetic disorders, such as Down Syndrome and spina bifida. The emergence of statistical …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… such as Bassen-Kornzweig disease or Kearns-Sayre syndrome. … There is no known cure for retinitis pigmentosa. … light avoidance and/or the use of low-vision aids to slow down the progression of RP. Some practitioners also consider vitamin A as a possible treatment option to slow down the progression of RP. Research suggests taking high …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… may fail to develop properly. For example, people with Down syndrome have three copies of chromosome 21, instead of the … Males with more than one X chromosome have Klinefelter syndrome, which is a condition characterized by tall stature …
File
… Reductionism Conceals Social Determinants: The Case of Down Syndrome and COVID-19 - Sara Bergstresser (Oct. 2022) …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… from cell to cell as cells divide. They also can be passed down from one generation to the next. … A human being has … by abnormal imprinting. They include Beckwith-Wiedemann syndrome, a disorder associated with body overgrowth and increased risk of cancer; Prader-Willi syndrome, associated with poor muscle tone and constant …