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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 …
The Genomics Landscape
In the August 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes Marcus G. Hodges as the new Intramural Training Office Director.
… genetic condition. The researchers focused on Williams syndrome and Angelman syndrome, both of which have characteristic facial features …
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. …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib …
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) …