Research is a process of discovery and learning that builds up step by step. It relies on people working together to solve a problem in whatever way they can.
That is why donations are so important, whether large or small. They are a positive way to participate in the journey towards understanding a disease and developing a cure. They help advance scientific discovery by supporting the most promising avenues of research. They can help build support from other donors and promote collaboration with others working on the same or related problems.
Philanthropic support is essential to help further the important research work being done on APBD.
Can LaTKE cure APBD?
A collaboration of researchers from Hadassah Medical Center and the Israeli company Pepticom has resulted in the design of a peptide (a very small molecule) that shows promise for APBD patients. The peptide they designed is identified by its components and has the name “LaTKE."
Building a Second Animal Model of APBD and Proof of Concept for ASO as a potential cure
Dr. Orhan Akman has developed mice which carry the exonic mutation, one of the two genetic mutations most found on APBD patients
Genetic Research/Targeted Therapies
Research continues to identify the genetic causes of disease and moves toward translating this information into earlier diagnosis, better management of disease, and improved treatment through new and targeted therapies.
Apbdrf saliva kit
A simple at home saliva test kit is now available for DNA only testing
Anti-Sense - Recently Approved Gene Therapy
This project uses an FDA-approved method to safely slow down the accumulation of polyglucosans, an abnormal form of glycogen that cannot be broken down and used for fuel in the body. Instead, they build up and form clumps that can damage cells, particularly nerve cells.
High Throughput Screening (HTS) - New Technology Analyzes Treatment Compounds Fast
We are working on a treatment for APBD by using a special screening process to find a small molecule medication that slows down the build up of polyglucosans (an abnormal form of glycogen) in one of two ways: by lowering glycogen synthase enzyme or by increasing glycogen branching enzyme.
NYC Marathon fundraiser
Thank you again for a successful campaign.
There were 74 donations!
And $ 47222 raised.
Looking forward to next year!
Registry to Speed a Cure
Registries are a powerful tool to help researchers learn more about a disease, collaborate with other researchers and work towards better treatment and cure. The APBD patient registry will consist of a secure database to store contact information and basic clinical data on patients with APBD.
Testing of molecules that may regulate Glycogen Branching Enzyme (GBE1)
GBE1 protein takes two forms: the so-called wild type (normal GBE protein) and Y329S, the mutation found in many APBD patients. We are producing both types modified in a way that can be purified in high amounts.
POTENTIAL IMPACT OF APBD RESEARCH ON OTHER DISEASES
Researching APBD can have a major impact on all 16 glycogen storage diseases as well as related common diseases such as Diabetes, Obesity, Muscular Dystrophy, Lou Gehrig’s Disease and Alzheimer's Disease.
GBE - The Epicenter of the Problem
In summer 2014, Dr. W. Yue, started a project titled ‘Developing Pharmacological Chaperones for the GBE1 Enzyme’. This is a high throughput project to screen for low molecular weight compounds that can stabilize mutant forms of GBE1 enzyme and prevent intracellular aggregation and/or degradation.
Personalized Medicine Initiative
Multiparametric-phenotypic signature approach based on the new high content screening (HCS) platform
APBDRF is the leading charitable foundation and driving force for APBD research worldwide.