Research for medical rarities — done with a kickstart

Research for medical rarities — done with a kickstart

By Janis Siegel, Jewish Sound Columnist

This latest research study from Tel Aviv University is pioneering because it’s one of a handful of studies in the world to have successfully used crowdfunding to finance the research.

The study is also counter-intuitive and atypical because TAU scientist, Dr. Noam Shomron, the co-founder and scientific director of the Functional Genomics Laboratory at TAU, is also a member of the Rare Genomics Institute. TAU and RGI worked together to find the genetic cause of an uncommon affliction that developed in a 3-year-old Israeli girl who suddenly began to lose her motor and speech skills.

Shomron, a leader in genetic sequencing, identified the whole genome of a patient, including the exome, which makes up nearly 1 percent of the full genome. Instead of containing DNA, however, the exome controls the production of proteins in the body.

“The first step in trying to cure a disease is finding its cause,” Shomron told The Jewish Sound. “By sequencing the DNA of these children we give the opportunity to find the causative gene or mutation.”

The research was published in the Journal of Genetics and Genomics.

Without any family history that would leave researchers a clue for risk factors and having exhausted all of its medical options available to them, the family was desperate to help their little girl, who eventually needed help sitting and walking.

By sequencing someone’s whole genetic code, including the exome along with every letter of DNA, researchers can see where any genetic material in a patient might be damaged or changed.

“We know that genetic testing like this can reveal familial, communal and regional mutations that can provide essential information to patients and their doctors.” Shomron said.

RGI is an international non-profit with applications and requests for help coming from nearly 20 countries around the world. It partners with academic institutions at Columbia University Medical Center, Duke University, Emory University School of Medicine, The Scripps Research Institute, Stanford School of Medicine, UCLA, the University of Washington, and others.

The nonprofit group is comprised of volunteer scientists who work in full-time positions where they live but who deeply care about the rare and unknown diseases that overwhelm the families who must cope with them.

RGI-Israel is dedicated to the rare diseases found in Israelis and operates under the close supervision of its counterpart in the U.S., using it as the model for operations and organization.

Shomron, who opened the RGI-Israel site, said that he believes performing this kind of genetic research in Israel has advantages over other populations.

“Israel’s significant advantage is that we have a unique local genetic Israeli and Arab pool of patients, which substantially increases our chances of identifying mutations,” he said.

The price to identify a whole exome sequence per person is $1,500. Approximately 250 million people globally are affected by these rare types of diseases.

Because this kind of disease research doesn’t benefit the largest groups of the sick around the world, funding such studies are nearly impossible, leaving the families desperate for help.

RGI gives families hope that they might find a cure for their loved one’s disease that might not otherwise be studied.

In Shomron’s study, researchers had to sequence both parents of the sick child, costing $4,500. That’s when he decided to crowdfund the medical cost, which the RGI-U.S. system has perfected.

“The more mutations we identify and learn of, the easier it would be to solve these cases,” Shomron said. “We know that genetic testing like this can reveal familial, communal, and regional mutations that can provide essential information to patients and their doctors.”

Once the whole genome of the patient has been identified, doctors in RGI help the patients interpret the results and decide what the next steps will be.

The organization guarantees a “tangible result.”

“After completing this task the question changed from ‘what is wrong with me?’ to ‘what can we do to try to solve it?’” Shomron said. “There is still a long path of investigation after mutation identification before a cure or therapy will be reached.”

In an interview with TAU staff, Shomron said that occasionally lifestyle changes, drug therapies, and physiotherapy can sometimes affect the outcome for a child.

But the benefit of identifying a mutated gene that is the cause of a disease pattern in a family can extend far beyond the one child.

“By knowing a child’s DNA, you also unlock a family secret that can possibly reflect on cousins, siblings and so on,” said Shomron. “It goes around and around in a circle — who else is carrying this gene?”


Longtime Jewish Sound correspondent and freelance journalist Janis Siegel has covered international health research for SELF magazine and campaigns for Fred Hutchinson Cancer Research Center.