Bert B. A. de Vries is a Dutch clinical geneticist and principal investigator at Radboud University Medical Centre in Nijmegen. Born in 1964 and raised in the Hoeksewaard south of Rotterdam, he took his medical degree at Erasmus University Rotterdam in 1990, trained in clinical genetics there, and moved to Nijmegen in 2001. His team studies the clinical and molecular basis of intellectual disability and autism, and has helped identify the genes behind Schinzel-Giedion, Bohring-Opitz and Cantu syndromes. With David Koolen he described the 17q21.31 microdeletion in 2006 and its cause, the gene KANSL1, in 2012. The syndrome is named for both men, and he has said that this discovery was the first of his career and remains the one that is special to him.
Facts
Connections
Discoveries
Source National Organization for Rare Disorders: Koolen-de Vries Syndrome (NORD Rare Disease Database)
Specialist In
Source A personal glimpse of Bert de Vries (Radboudumc news, 26 November 2020)
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Also in Geography Atlas: the nationality of this subject.
Source National Organization for Rare Disorders: Koolen-de Vries Syndrome (NORD Rare Disease Database)Disease Overview, IntroductionQuote, Disease Overview, Introduction
Dutch geneticists David A. Koolen and Bert B. A. de Vries
Sources
1. A personal glimpse of Bert de Vries (Radboudumc news, 26 November 2020)
Opening paragraph
born (1964) and raised in the Hoeksewaard
Specialist In: Medical Genetics, Prior training answer
started working as a Clinical Geneticist in the department of Human Genetics
In Group: Molecular Biologists and Geneticists, Research discoveries answer
I have been involved in the discovery of over dozens of genes associated with intellectual disability and/or autism
View the SourceNational Organization for Rare Disorders: Koolen-de Vries Syndrome (NORD Rare Disease Database)
National Organization for Rare DisordersDisease Overview, IntroductionQuote, Disease Overview, Introduction
Dutch geneticists David A. Koolen and Bert B. A. de Vries
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