Crowd-Sourced Funding Provides Missing Help for Rare Genetic Diseases Wednesday, February 27, 2013
TAU researcher heads first international branch of the Rare Genomics Institute
For the estimated 250 million people worldwide who suffer from rare diseases, there is little hope for diagnosis or treatment. Because each individual disease impacts so few people, hardly any funding is allocated to research, leaving many without medical options. The US-based non-profit organization Rare Genomics Institute (RGI) is working to address this problem by "crowd-funding" — allowing people to donate on the Internet towards genetic testing for individual children who are struggling with a rare disease.
Based at the TAU-affiliated Sourasky Medical Center and Rabin Medical Center, RGI-Israel will help families with children impacted by rare genetic diseases find support and care through advanced genetic testing. The Israeli branch is run in collaboration with three of Israel's top geneticists, Drs. Lina Basel, Shay Ben-Shachar, and Hagit Baris.
The services that the organization provides are sorely needed in Israel, says Dr. Shomron, who is the director of Israel’s RGI. Both Jewish and Arabic populations in Israel are plagued by a unique pool of genetic diseases. "There are decades of genetic puzzles in the Israeli population, and we are hoping to solve a few of them," he says, hoping that RGI-Israel will help provide the funding to support these families in need.
A community effort
Dr. Noam Shomron
A decade ago, the human genome was sequenced for the first time. The process cost over a billion dollars and took more than ten years to complete. But 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.
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 plans, 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.