Scientists | Registry | High throughput screening machine | Pepticom initiative
Hasan Orhan Akman, PhD | Dr. Heather A. Lau, MD | Dr. Fogel | Dr. DiMauro| Dr. Berge Minassian | Wyatt Yue
Here at the opening reception for RZ’s PORTRAITS exhibit at the Edgemar Center for the Arts in Santa Monica, CA on January 18, 2015, Dr. Brent Fogel of UCLA answers questions from attendees, including legendary actor Michael York, himself living with a rare degenerative condition. Audience members were engaged and grateful to be informed.
Dr. Berge Minassian explains Lafora Disease in Miniature Wirehaired Dachshunds
He describes a potential Antisense Oligonucleotide treatment that down regulates Glycogen Synthase (GS) to cure Lafora.
Dr. Minassian is working on a parallel proof of concept project on APBD expected to be complete by summer 2016.
Dr. Wyatt Yue gave a 5-minute “Lightning Round” presentation about the repurposing of Guaiacol at the Findacure conference in London. He gave attributions to Dr. Orhan Akman and Dr. Or Kakhlon.
Richard Buchsbaum| Dr Kolodny
Richard Buchsbaum is the Senior Data Manager at the Statistical Analysis Center/ Biostatistics Department Mailman School of Public Health Columbia University. In this video he talks about what an APBD patient registry is.
Richard Buchsbaum is the Senior Data Manager at the Statistical Analysis Center/ Biostatistics Department Mailman School of Public Health Columbia University. In this video he talks about the significance and value of an APBD patient registry.
Dr. Kolodny has been interested in inherited diseases of the nervous system for many years starting with work in the late 1960’s on Tay-Sachs disease. Patients with APBD very often present with urinary incontinence as an early sign. Males will also present with impotence as well. Other common symptoms include peripheral neuropathy and loss of sensation and motor control in the legs. Neurologists should consider APBD in the differential diagnosis when seeing middle age patients who present with these signs.
Edwin H. Kolodny M.D., a member of the Adult Polyglucosan Body Disease Research Foundation’s (APBDRF) Medical Advisory Board, discusses the potential value of establishing an APBD patient registry.
Since treatments for genetic diseases have been found there has been a major shift in acceptance of patient registries. Registries provide a natural history of a disease, showing when certain things happen to a patient. If you can show you can alter the natural history of a genetic disorder favorably and improve quality of life by comparing it with the untreated state from a registry then you’re much better positioned to get FDA approval for a new treatment and new drugs.
APBD patients can be assured that the registry would be maintained in an anonymous and protected way, ensuring confidentiality. Patients who would like to share their stories and learn from one another can also choose to make their contact information available to other patients.
The APBDRF Scientific Advisory Board is comprised of world leading scientists, physicians and educators in genetic neurological disease research and clinical care. Their fields of expertise include neurology, cell research and immunology, clinical pathology, and genetic research.
Dr. Berge Minassian is a neurologist and senior scientist at the Hospital for Sick Children and the University of Toronto in Toronto, Canada.
Dr. Minassian discusses similarities between Lafora Disease and APBD in terms of their pathology, what’s going on in the brain and abnormal polyglucosans. Because of their similarity, research in one disease will benefit the other. And because mice are very similar to humans in terms of polyglucosan biology, if we fix the problem in mice we will be very close to fixing the problem in humans. Through the work of the APBD Research Foundation and funding and the work of colleagues, the APBD mouse is now available. We have been able to cure the Lafora mice by getting rid of the polyglucosans. If we can cure the APBD mice in the same way, the next step will be human trials.
In this video you can see a robotics demonstration of the high throughput screening process being done by the Adult Polyglucosan Body Disease Research Foundation.
Can LaTKE cure APBD 4:16
Using computational techniques, Pepticom has designed a peptide that stabilizes the Y329S mutant GBE1 enzyme and partially rescues its function in cells. Developing the peptide as a drug candidate requires funding sufficient to assure that its safety and efficacy meet FDA approval standards.