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 Photo: 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
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
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
“There are decades of genetic puzzles in the Israeli
population, and we are hoping to solve a few of them,” Shomron said.
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
Shomron’s lab is a world leader in this field of
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
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
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.
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
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.