Hadassah research could lead to a cure for APBD. If 200 cases are indentified, an Israeli startup may pay for a drug trial.
I have a genetic disease known as APBD, Adult Polyglucosan Body Disease. Could you or a loved one have it, too? Absolutely, yes. It afflicts an untold number of Ashkenazi Jews throughout the world, and it is usually misdiagnosed.
Sufferers are often told they have MS, ALS, prostate disease (men), and other ailments which have symptoms similar to APBD. Lives become medical disasters filled with useless surgeries and inappropriate medications, even as walkers and wheelchairs become an integral part of life.
Most importantly, Hadassah Medical Center has played a pivotal role in getting to the bottom of this devastating genetic disease:
Dr. Alex Lossos, a Principal Investigator at the medical center, identified APBD in the 1990’s and also discovered the first of two genetic defects which lead to its presence in the Ashkenazi community.
Dr. Or Kakhlon, also a Principal Investigator at Hadassah Medical Center, is now researching the use of a class of medicines that may prevent the nerve damage which leads to the brutal symptoms that accompany APBD.
Those of us correctly diagnosed with APBD have been given an unprecedented opportunity to move towards a cure. We need help from Jewish community members and leaders. An Israeli startup company will consider paying for and running a drug initiative. For its part, the APBD Research Foundation must present a registry of 200 patients with a confirmed diagnosis.
Even though 1 out of 68 Ashkenazi Jews carries a genetic mutation that can lead to APBD, the patient registry is short. We need to identify 200 cases, otherwise we risk losing an opportunity everyone has been dreaming about.
To help the Jewish community recognize APBD in its early stages, the APBD Research Foundation created a memory tool which is based on the initials of the disease’s name:
Any man or woman of Ashkenazi Jewish descent who is searching for a diagnosis and sees the A-P-B-D indicators in himself/herself should get tested for the disease called APBD. It’s simple. A saliva sample is collected in one’s home and sent to a lab at Columbia University in New York for analysis. The analysis is being underwritten by the APBD Research Foundation.
More information about the registry and the testing kit can be found at APBDRF.org
The Jewish community needs to be engaged quickly in order for this potential cure to move forward. Would you please share this information? It means the world to me and many others.
APBD Research Foundation
Gregory Weiss, President