Genetics discovery–helped by the Internet–holds key to many birth defects


Clinical and basic scientist researchers at the University of Chicago followed a mysterious course of clues–and used the Internet to find patients to study–to identify the “first genetic cause of one of the most common birth defects of the brain, Dandy-Walker malformation (DWM). Infants with this disorder–about one in 10000 births–have a small, displaced cerebellum and other brain abnormalities that can reduce coordination, impair mental function and cause hydrocephalus.”

This story is a fascinating one of how scientists used deduction to follow a trail from a single child who was found to have a missing piece of chromosome to make this discovery. Even more exciting is the fact that DWM seems to be genetically a more extreme form of the same kind of abnormalities that result in autism.

Leave it to a student, though. A female MD/PhD student who combed the Internet to find parent support groups for children with DWM and separately for parents of children with related chromosomal abnormalities. How brilliantly shines the beauty of what the Internet can do to help human beings accomplish great things.