Crowd-sourcing to fund research of rare diseases

Researcher launches ‘adoption’ of children with rare genetic diseases to sponsor genome testing.

DNA strand double helix 311 (photo credit: Jerome Walker)
DNA strand double helix 311
(photo credit: Jerome Walker)
A Tel Aviv University researcher has established an apparatus to help Israeli families with rare genetic defects undergo testing and, it is hoped, eventually obtain treatment.
The project will be funded by visitors to a website with personal stories of patients who choose to donate toward helping a specific family. Such testing is not in the basket of health services funded by health taxes and government subsidies.
The effort was announced on Wednesday on the eve of the International Rare Diseases Day, which will be marked around the world on Thursday.
The method of funding is called “crowd-sourcing,” referring to a collective effort by individuals who network and pool their money, especially via the Internet, to give financial support to projects initiated by other people or organizations.
As these “orphan diseases” affect only a small number of people, drug companies and governments spend little money to research rare genetic disorders. The US-based nonprofit Rare Genomics Institute (RGI) is working to address this problem by “crowd-funding” – allowing people to donate online to cover the genetic testing of children who are struggling with rare diseases.
Dr. Noam Shomron of Tel Aviv University’s Sackler Faculty of Medicine has adopted the RGI idea and set up an Israeli branch. The organization has just launched its first online appeal for two Israeli children.
As many as 250 million people around the world suffer from orphan diseases; however, since there are so many but so few people suffer from a specific one, there is little hope for diagnosis or treatment.
Based at the Tel Aviv University- affiliated Sourasky Medical Center and the Rabin Medical Center- Beilinson Campus in Petah Tikva, RGI-Israel will help families with children impacted by rare genetic diseases find support and care through advanced genetic testing.
Jews and Arabs, – a group which especially suffers from orphan diseases due to consanguinity, or inbreeding of first cousins – 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,” Shomron said.
A decade ago, the $1 billion Human Genome Project sequenced human genes for the first time. But now a more advanced technology called deep sequencing can map the entire human genome in only a few days and at a much lower cost.
Shomron’s lab is a world leader in this field of research.
The Israeli website presents pages with pictures and personal stories of children who need genetic testing for mutations as the first step toward treatment or a cure.
The cost for deep sequencing is about $1,500 per child, but a total of $8,000 is needed to confirm the genome of each affected child and their relatives, depending on the family’s genetic history and the genetics of the disease, said Shomron. This allows families to avoid the difficult and expensive process of testing for mutations at their own expense.
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,” the Tel Aviv University researcher said.
Once the genetic testing has been completed, RGIIsrael’s doctors will meet with each family to discuss the results. The support will end there, as the next phase will 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 he or she is not facing the disease alone.
For many families, simply knowing the cause of their child’s disease provides a sense of relief and hope and also assists the physicians in creating better treatment plans. In a few cases, RGI’s work has even led to a successful treatment; this occurred with a child who was found to have a blood-related defective gene, who underwent a stem cell transplant and was completely cured.
The resultant new genetic information can also help affected couples undergo pre-implantation diagnosis to choose a healthy embryo and implant it into the woman’s uterus, while discarding the sick embryos.