The APBD Research Foundation is pleased to share that Or Kakhlon, PhD (Research Fund of the Hadassah Medical Organization) and Priya Kishnani, MD, MBBS and Rebecca Koch, PhD, RDN, LDN (Duke University Medical Center) are the recipients of rare disease research grants from the University of Pennsylvania’s Million Dollar Bike Ride (MDBR) program.

From left to right: Dr. Priya Kishnani, Dr. Rebecca Koch, and Dr. Or Kakhlon

For the past eight years, our Foundation has partnered with the University of Pennsylvania’s Orphan Disease Center to participate in — and raise funds for — the Million Dollar Bike Ride program. This program provides a one-year pilot grant to support research related to a rare disease represented in the Million Dollar Bike Ride.

Through this partnership, our researchers at Columbia University, Duke University Medical Center, UT Southwestern Medical Center, University of Florida, Newcastle University, and Hadassah Medical Organization, have collectively received approximately $739,000 in pilot grants managed on our behalf.

Last June, the APBD Research Foundation and the APBD Tour de Friends biking team raised $70,000, matched by an additional $30,000 from the Orphan Disease Center. Then, in the fall, APBD researchers globally were invited to submit proposals for grant support.

Dr. Priya Kishnani is the C.L. and Su Chen Professor of Pediatrics and the Chief of the Division of Medical Genetics at Duke University. She also holds the position of Professor in the Department of Molecular Genetics and Microbiology and is Medical Director of the YT and Alice Chen Pediatrics Genetics and Genomics Center. Dr. Rebecca Koch is a clinical and translational researcher and registered dietitian. She currently oversees the Glycogen Storage Disease (GSD) translational research program for Dr. Kishnani which focuses on defining the natural history, pathophysiology, and factors related to treatments for GSDs. Their winning proposal, “Deep Tissue and Cellular Phenotyping of APBD: A Bench to Bedside Approach” aims to increase the knowledge and understanding of the specific cells and tissues involved in APBD, as well as assess how the disease pathology changes over the course of the disease.

Dr. Kishnani explained, “In recent years, several papers on APBD have been published – both by our team and others – and they have advanced our understanding of the natural history, or progression, of APBD. However, our knowledge on the specific pathology as the disease progresses remains inadequate. By understanding the extent of tissue and cellular involvement in APBD over time, we can work to improve patient management and identify therapeutic targets.”

Dr. Koch added, “Under the direction of Dr. Kishnani, our multidisciplinary team has developed the techniques to look at APBD tissues and precisely identify what cells and regions are involved, particularly in the brain and spinal cord. A small number of decedents who had been diagnosed with APBD have given a last gift to research by donating autopsy samples to our rare disease biorepository. With the generous funds from the MBDR, we are able to test those invaluable patient samples to provide us the foundational knowledge needed to design targeted therapies for APBD.”

Dr. Or Kakhlon is an assistant professor in the Department of Neurology at Hadassah-Hebrew University Medical Center and a long-standing member of the APBD Research Foundation’s Scientific Advisory Board. He has been an important contributor to APBD research, co-authoring over ten APBD publications within the past decade alone. His winning proposal, “Combinations of Small Molecule as Potential Therapeutic Agents for APBD” aims to enhance promising compounds for treating APBD; and establish new biomarkers, including neurofilaments and metabolites.

Dr. Kakhlon shared, “The importance of this application is twofold. First, we will test for the first time combinations of small molecules, each having a different mechanism of action, which together have a high probability of generating novel synergistic or additive therapeutic modalities. Second, novel biomarkers related to brain and serum metabolite and neurofilament levels will be introduced for future use as diagnostic and treatment-assessment tools.”

Harriet Saxe, a member of the Foundation’s Board of Directors, expressed the profound impact of research progress on her family and other family members diagnosed with APBD. “There had been no treatment options for other Saxes, but I am determined to change the story for my husband Chuck and other patients with APBD. Through our partnership with UPenn’s Orphan Disease Center, we are accelerating APBD research and bringing forth important discoveries. We are grateful to every supporter, the Orphan Disease Center, Dr. Kishnani, Dr. Koch, and Dr. Kakhlon for their commitment to advancing APBD research.”

On June 8, the APBD Research Foundation will be participating in the 2024 Million Dollar Bike Ride – once again, bringing the APBD community together to accelerate research.