End AxD Scientific Advisory Committee

This distinguished group of experts, chaired by Dr. Albee Messing, will provide guidance and ensure the credibility of the organization's research initiatives and overall mission.

This is a pivotal time for Alexander Disease research, with one program in clinical trials, other potential therapeutic interventions in pre-clinical development and progress being made in understanding the mechanisms and clinical markers of the disease. The SAC’s expertise will be critical in navigating this exciting landscape and maximizing End AxD’s impact.

The SAC is composed of leading researchers and clinicians in the field of leukodystrophies and related neurological disorders, whose collective expertise will be invaluable in shaping End AxD's strategic direction and ensuring its efforts are focused on the most promising avenues of research and patient support.

"We are incredibly honored to welcome these esteemed individuals to our Scientific Advisory Committee, and especially grateful to Dr. Messing for agreeing to serve as Chair," said Jennifer Pearson, President of End AxD. "Their combined knowledge and experience will be instrumental in advancing our understanding of Alexander Disease and ultimately improving the lives of those affected."

The members of the End AxD Scientific Advisory Committee are:

  • Albee Messing, VMD PhD (Chair), Waisman Center & Dept of Comparative Biosciences, University of Wisconsin-Madison. Dr. Messing's research focuses on the molecular pathogenesis of Alexander Disease and other neurological disorders, with numerous publications in high-impact journals. His pioneering work in identifying the genetic cause of AxD and developing ASO therapy has significantly advanced the field and led to the first Clinical Trial of a potential therapeutic for Alexander Disease.

  • David Lynch, M.D., PhD (Co-Chair) University College London, Institute of Neurology, Department of Neuroinflammation. Dr Lynch has a clinical and research interest in adult onset inherited white matter disorders (IWMDs) or leukodystrophies. He is the clinical lead for the NHS England Highly Specialist Service for adult IWMDs. His research focuses on natural history, epidemiology and clinical trials in IWMDs and genetic forms of cerebral small vessel disease.

  • Yukari Blumenthal, M.D., Kyoto University, Center for iPS Cell Research and Application (CiRA), Associate Medical Director and Lead for Drug Discovery and Research for Neglected Rare Diseases at Astellas Pharma, Japan. Executive Director, NPO K.U.N.O. eV, Germany. Board Director, EndAxD. Dr. Blumenthal's work focuses on Alexander Disease and Rare Disease Natural History and Drug Discovery and Development. 

  • Josh Bonkosky, M.D., Ph.D, Professor of Pediatric Neurology, Adjunct Professor of Neurobiology, Adjunct Professor and of Neurology and Chief, Division of Pediatric Neurology, Director, Primary Children's Center for Pediatric Personalized Medicine, University of Utah School of Medicine, and Primary Children’s Hospital. Dr. Bonkowsky and his team are deeply committed to the research studies of leukodystrophy, with expertise in Gene Therapy, Personalized Medicine and translational research.

  • Florian Eichler, M.D., Katherine B. Sims Chair in Neurogenetics, Center for Genomic Medicine, Director, Center for Rare Neurological Diseases, Massachusetts General Hospital, Professor of Neurology, Harvard Medical School. Dr Eichler has a strong expertise in neurogenetics and translational neuroscience, unraveling the disease mechanisms of monogenetic disorders affecting the nervous system. 

  • Mel Feany, M.D., Ph.D., Professor of Pathology, Harvard Medical School, Brigham and Women's Hospital. Dr. Feany is a renowned expert in neurodegenerative diseases, using Drosophila models to study human diseases like Alzheimer's, Parkinson's, ALS, and Alexander Disease. Dr Feany’s work has led to identifying key cellular pathways involved in neurodegeneration in AxD.

  • Natasha Snider, PhD, Associate Professor of Cell Biology and Physiology, UNC-Chapel Hill. Dr. Snider is a basic scientist studying the structure, function and regulation of glial fibrillary acidic protein (GFAP), the protein affected in AxD. Her lab uses multidisciplinary approaches to investigate the molecular mechanisms, including post-translational modifications, leading to GFAP misfolding and accumulation in AxD astrocytes. The ultimate goal of this research is to advance small molecule-based approaches for restoring and maintaining proper GFAP structure and function.

  • Amy Waldman, M.D., M.S.C.E., Medical Director of the Leukodystrophy Center and Associate Director of Neurology Gene Therapy, at Children's Hospital of Philadelphia, as well as Associate Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania, Dr. Waldman is an expert in leukodystrophies, and Alexander Disease in particular. Her expertise in clinical outcome measures and her leadership of the natural history study on Alexander disease are invaluable assets to the community.

The SAC will play a crucial role in shaping future funding decisions, ensuring continued support for impactful research.

The SAC will be responsible for:

  • Reviewing and evaluating research proposals submitted to End AxD

  • Providing expert guidance on research priorities and strategies.

  • Ensuring the scientific rigor and integrity of End AxD's programs.

End AxD looks forward to collaborating with these distinguished experts to make a meaningful difference to Alexander Disease research.