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January 07, 2008

Donor Sperm and Genetic Disease...Again

Bertalan Mesko at ScienceRoll linked today to a Wall Street Journal Health blog post about a child with Tay-Sachs conceived with a donated egg.  This interesting story, originally reported in the LA Times, certainly isn't the first example of a rare genetic condition being passed on to a child via a donor egg or sperm.

For example, in 2006, Dr. Laurence Boxer of the University of Michigan and colleagues demonstrated that donor sperm from the same individual transmitted a mutation in the ELA2 gene to 5 separate children, giving them a condition called severe congenital neutropenia.  Children with SCN do not make enough neutrophils (a type of white blood cell that fights off bacterial and other infections).

The original report and news coverage (for example here) question whether mechanisms to identify clusters of genetic disease transmitted by single donors should be implemented.

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