APBD Research Foundation Expands its Scientific and Medical Advisory Board with the Addition of Dr. Jennifer Orthmann-Murphy, Dr. Felix Nitschke, Dr. Matthew Gentry, and Dr. Wyatt Yue

The APBD Foundation is excited to announce key additions to its Scientific and Medical Advisory Board (SMAB).

The new additions to our SMAB include:

• Jennifer Orthmann-Murphy, MD, PhD, Co-Chair
  Dr. Jennifer Orthmann-Murphy is an Assistant Professor of Neurology and co-director of the Age-Span Fellowship in MS/Neuroinflammatory Disorders at the University of Pennsylvania. Dr. Orthmann-Murphy runs a translational research program studying the role of glial cells in myelin disorders. She also sees patients with multiple sclerosis and leads an ‘Undiagnosed White Matter Disorders’ clinic where APBD is the third most common disorder diagnosed. Dr. Orthmann-Murphy is a reviewer of our Million Dollar Bike Ride scientific research grant applications.
• Felix Nitschke, PhD, Co-Chair
  Dr. Felix Nitschke is an Assistant Professor in the departments of Pediatrics and Biochemistry at UT Southwestern Medical Center. Dr. Nitschke’s research is focused on understanding the principles of functional and pathological glycogen metabolism and on establishing a novel enzyme replacement platform against multiple rare diseases. In 2021, Dr. Nitschke was awarded a Million Dollar Bike Ride research grant to support the ongoing development of a novel therapeutic strategy that removes polyglucosan bodies, the culprit in APBD.
• Matthew Gentry, PhD
  Dr. Matthew Gentry is a Professor and Chair of Biochemistry & Molecular Biology in the College of Medicine at University of Florida. He is a prominent brain metabolism scientist who has made seminal discoveries in the realm of brain glycogen and glucose metabolism and how perturbations in these pathways impact neuro-centric diseases. His lab works on neurological glycogen storage disorders as well as the role of glycogen in cancer, focusing on defining disease mechanisms, pre-clinical drugs, and clinical biomarkers. In 2022, Dr. Gentry received a Million Dollar Bike Ride research grant – a collaboration with Dr. H. Orhan Akman of Columbia University – to support the identification of APBD pre-clinical biomarkers and assessment of an enzyme therapy in an APBD mouse model.
• Wyatt Yue, PhD
  Dr. Wyatt Yue is the Chair of Structural Biology at Newcastle University Biosciences Institute. Dr. Yue serves on the steering committee for the Newcastle Centre for Rare Diseases. He also holds a visiting professorship at the University of Oxford. Dr. Yue is focused on the use of structural, biochemical, and chemical biology approaches to study diverse metabolic protein families in the human genome, towards the discovery of novel small molecule therapy for rare diseases with unmet need. In 2021, Dr. Yue was awarded a Million Dollar Bike Ride research grant to support the discovery of glycogen synthase inhibitors as a novel therapeutic target for APBD.

“We are thankful to have the leadership of our SMAB co-chairs Dr. Orthmann-Murphy and Dr. Nitschke and newly added SMAB members Dr. Gentry and Dr. Yue,” shared Natacha Pires, the Foundation’s Executive Director.

Our SMAB members offer scientific and medical expertise and guidance to our Board and staff team by bringing perspectives from foundational, clinical, and translational science. They also represent the Foundation at various professional and patient advocacy meetings around the world and in the media.

Natacha added, “Expanding our SMAB was a strategic 2023 priority. Now, we find ourselves well-positioned for new collaborative rare disease research opportunities that will bolster therapeutic development and approval.”