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Crowd-sourced funding provides missing help for rare genetic diseases
Date:2/27/2013

s, and in a few "miracle" cases, RGI's work has even led to a successful therapeutic management. With the very first child whose genome was sequenced, doctors discovered that he had a mutation in a haematological-related gene, says Dr. Shomron. With a stem cell related transplant, they were able to completely eradicate his disease.

Genetic knowledge can also be invaluable in terms of future family planning. Many affected parents want more children but are afraid of similar complications with subsequent births. Once the genetic mutation is identified, these couples can use IVF and advanced scanning methods such as Preimplantation Genetic Diagnosis (PGD) to ensure that their future children are healthy.


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Contact: George Hunka
ghunka@aftau.org
212-742-9070
American Friends of Tel Aviv University
Source:Eurekalert

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