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

ut now a more advanced technology, deep sequencing, can sequence the entire human genome in a matter of days and at a less prohibitive cost. Dr. Shomron's TAU lab is a world leader in this field of research.

RGI's approach is straight-forward. It maintains online donation pages with pictures and personal stories of children in need of genetic testing for mutations as the first step toward treatment or a cure. Donors can then contribute to the cost of DNA testing for each individual child. "Deep sequencing costs around $1,500 per person now, and the fundraising goal for each child is less than $8,000, which is used for sequencing and confirmation of the genomes of the affected child and their relatives, depending on the family's genetic history and the genetics of the disease," says Dr. Shomron, who notes that Israeli families are already reaching out to RGI Israel for help. This allows families to avoid the difficult and expensive process of testing for mutations gene by gene.

One family, for example, has been plagued for generations by what appears to be mental retardation but the medical cause of this condition remains a mystery. "They have been living for many years without knowing what causes this problem in their family. They don't know whether their DNA is the cause and if it is, what mutation causes it," he says.

Once the genetic testing has been completed, RGI-Israel's doctors will meet with each family to discuss the results. And the support won't end there. The next phase is to link each family with researchers who study the genes in question, building a network of researchers and patients who work together to investigate these rare diseases. Ultimately, this process assures each patient that they are not facing their disease alone.

Family planning

For many families, simply knowing the cause of their child's disease gives a sense of relief and hope. It also helps doctors to develop better treatment plan
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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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