Tuesday, February 26, 2013

DNA Test for Rare Disorders Becomes More Routine

DNA Analysis, More Accessible Than Ever, Opens New Doors
Here is another NYTimes article, this one directly related to tomorrow's readings.  In it, a family whose two sons have been affected by serious and rare genetic disorders.  Their first son, Jacob, has Angelman syndrome while their second son, Eli, has an extremely rare condition (less than 10 cases have ever been documented) which resulted from a single base mutation in the CASK gene.  While their first son has severe developmental delays, Eli's condition will require life long dependent care.  Eli's condition was repeatedly misdiagnosed until his parents learned of DNA sequencing.  The parents have since made it their mission to promote genetic sequencing to other parents of children with developmental delays.  They say it will lessen the confusion, stress, and costs of repeated misdiagnoses, cross-country visits to multiple experts, and failed treatments.

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