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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 …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Reductionism Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …
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. …
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) …
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 …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… for 17 genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes … awards to support training in research related to Down Syndrome as part of the INCLUDE Project Mentored career … the careers of investigators pursuing research related to Down syndrome as part of the INCLUDE Project Research on the …