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Trisomy 18 (Edwards Syndrome)
By: Mark Zhang
| Published: Aug 16, 2011
John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs…
TrisomyFetusCongenital DisordersHuman Development
Lap-Chee Tsui (1950-)
By: Kristina Winikates
| Published: Nov 10, 2011
Lap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. As the location of…
PeopleTsui, Lap-CheeCystic FibrosisReproductionBiography
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
By: Kristina Winikates
| Published: Jan 01, 2012
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the…
Cystic FibrosisReproductionCongenital DisordersHuman Development
Tay-Sachs Disease
By: Kristin Kelley
| Published: Oct 29, 2010
In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a…
Tay-Sachs DiseaseCongenital DisordersHeredity
Niemann-Pick Disease
By: Tristan Cooper-Roth
| Published: Oct 11, 2010
In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with…
Niemann-Pick DiseasesHuman DevelopmentCongenital Disorders