Finding Gene Gives Family Hope
An Australian family of five children were instrumental in the discovery of a new gene on the X chromosome, CDKL5, which researchers believe regulates other genes involved in brain development and function. One of the children in the Boltwood family had profound intellectual disability and died when he was 15. Two of the children are twins; one girl has Rett Syndrome and the other has autism.
While further research is needed to understand how the gene works and whether it would be useful to screen children for it, the discovery of a responsible gene has already given the family a sense of relief.
“I was tied to searching for a reason,” Mrs. Boltwood (mother) said.
“It becomes a mission in life, I think. When John (Christodoulou, medical geneticist) phoned me and said, ‘Sit down, we’ve found your gene,’ it was like finding a long-lost family member.”
The prospect of genetic testing may be frightening because it will reveal information about us that we may not want to know. When there’s a family history of serious disease, however, genetic tests may also provide a sense of relief and hope that there’s a treatment on the horizon.
~The Age, August 2, 2005
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POSTED IN: General Genetics and Health
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