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Genetic Linkage

Rare Disease Day 2017: Talia's Story

Talia Duff with Cynthia the Hippo
This year for Rare Disease Day – February 28th – DNA Science honors Cure CMT4J: Advancing Gene Therapy for Rare Diseases, run by Jocelyn and John Duff. Their daughter Talia’s “diagnostic odyssey” was unusually long because Down syndrome obscured a second condition, an extremely rare form of Charcot-Marie-Tooth (CMT) disease. Read More 
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Disappearing Down Syndrome, Genetic Counseling, and Textbooks

Last week, several people sent me a perspective piece by bioethicist Art Caplan published in PLOS Biology, "Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing." The concise and compelling article considers legislation to mandate that genetic counselors talk to their patients more about positive aspects of having a child with trisomy 21 Down syndrome. Read More 
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