Genetic Nerve Disease Puts Photographer on Other Side of the Lens

New Genetic Disease Affects Ashkenazi Adults

Both Sides of the Camera: Before he was diagnosed with the genetic disease APBD, Robert Zuckerman was a photographer at Hollywood film sets, shooting stars such as Dwayne ‘The Rock’ Johnson.
Courtesy of Robert Zuckerman
Both Sides of the Camera: Before he was diagnosed with the genetic disease APBD, Robert Zuckerman was a photographer at Hollywood film sets, shooting stars such as Dwayne ‘The Rock’ Johnson.

By Yardain Amron

Published August 11, 2014, issue of August 15, 2014.

(page 2 of 2)

There have been a number of cases in which APBD was diagnosed but only a single copy of the mutant allele was found; these have puzzled researchers. A potential breakthrough recently came out of Columbia University in New York, where neurologist Orhan Akman discovered a second mutation of the gene that generates APBD. This could explain positive diagnoses in people he had expected to be unaffected carriers.

“There was a group of patients who were not supposed to have the disease, but still did,” Akman said. “And this was frustrating for the patients and us.”

Akman expects to publish a study in mid-August.

The genetic mutation that causes the disease was first discovered in the early ’90s by Alex Lossos, a doctor and researcher at Hadassah Medical Center in Jerusalem. The largest strides in the research have only come in the last decade though, largely due to the APBD Research Foundation, which was founded in 2005 by APBD patient Gregory Weiss.

While neither a cure nor proven treatment regimen yet exists, researchers are making progress. APBD Research labs exist in Israel, the U.S., Canada, Spain and England, and Akman is developing a medicine, to be taken like cough syrup, that he hopes will slow down the progress of the disease and other glycogen storage disorders. APBDRF provided $26,000 for Akman’s initial research and committed $112,000 toward the mouse trials that he expects to begin this summer.

If it alleviates APBD symptoms in mice without causing grave side effects, the treatment could be ready for initial clinical trials in a year, Akman said.

“That’s very big progress considering the organization was founded less than 10 years ago,” Weiss said.

This May, APBDRF established an anonymous registry through Akman’s lab to diagnose and document potential carriers and patients of APBD. Upon request, the lab will send a saliva testing kit.

It Began as a Limp: Photographer Robert Zuckerman received the correct diagnosis of adult polyglucosan body disorder seven years after he had the first symptoms.
Courtesy of Robert Zuckerman
It Began as a Limp: Photographer Robert Zuckerman received the correct diagnosis of adult polyglucosan body disorder seven years after he had the first symptoms.

Zuckerman, who now zips around in an electric scooter, became heavily involved in the small organization soon after his diagnosis in 2010. He still appears atop IMDB’s rankings for photography, and insists that the scooter has put him at no particular disadvantage professionally. Still, much of his work in the film industry seems to have mysteriously dried up. It’s “frustrating and disheartening,” Zuckerman acknowledges. These days you’re more likely to find him on the other side of the camera, in brochures and videos for APBD awareness.

Yardain Amron is a summer fellow at the Forward. Contact him at amron@forward.com or follow him on Twitter @yardain



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