Board of Directors
Kira Dies, ScM, CGC
Co-director of Clinical Research and Regulatory Affairs Service, Translational Neuroscience Center, Boston Children's Hospital. Kira is a licensed genetic counselor at Boston Children's Hospital. She has a deep understanding of the underlying genetics of neurodegenerative diseases like HSP. She manages multi-site clinical trial for neurogenetic conditions including tuberous sclerosis complex, Rett syndrome, and PTEN hamartoma syndrome.
Head Golf Professional, Riverton Country Club. Kevin is Molly Duffy's father. He has been working in the golf industry for more than 15 years and is currently responsible for leading the golf operation at Riverton CC from both an operational and strategic level. His areas of expertise include marketing, relationship management, customer service, team building and coaching.
Executive Director, Alternative Therapies Group. Chris is Robbie Edwards' father. He has founded a series of startup companies during his career. He has extensive experience in building/managing teams with diverse skills sets, and with navigating complex governmental regulations and problem solving.
Erika M. Gill, MBA
Senior Director, Asset Management, Biogen. Erika has over 18 years' experience in healthcare and biotech, leading several cross-functional areas focusing on product program management, patient services programs, marketing and health care administration.
Dr. Mimoun Azzouz
Chair of Translational Neuroscience, ERC Advanced Investigator, Director of Research and Innovation, University of Sheffield. Dr. Azzouz has a long-standing interest in developing gene therapy approaches for neurodegenerative diseases. His team utilizes viral-based gene transfer systems both for research and gene therapy applications.
James T. Bennett, MD, PhD
Pediatric Geneticist, Seattle Children's Hospital Genetics Care Team, Associate Editor American Journal of Medical Genetics. Dr. Bennett is board certified in Clinical Molecular Genetics. He has initiated a project of collecting and reporting pertinent medical information for known SPG47 patients.
Dr. Craig Blackstone
Senior Investigator, Cell Biology Section, National Institute of Neurological Disorders and Stroke, NIH. Dr. Blackstone's laboratory investigates the cellular and molecular mechanisms underlying hereditary movement disorders. Craig is one of the most prominent HSP researchers in the world.
Georg Borner, PhD
Max Planck Institute of Biochemistry Group Leader. Dr. Borner is investigating the molecular details of AP-4 deficiency syndrome. His lab recently uncovered a direct link between AP-4 mediated transport and the spatial control of autophagy, via sorting of the core autophagy machinery protein ATG9A, providing a potential mechanism for AP-4 pathology.
Wendy K. Chung, MD, PhD
Associate Professor of Pediatrics (in Medicine) Columbia University Institute for Genomic Medicine. Dr. Chung is a board certified clinical geneticist with a PhD in molecular genetics. She is the director of the clinical genetics program at Columbia University, a co-director of the molecular genetics diagnostics lab, and heads a research laboratory in the division of molecular genetics investigating the genetic bases for a variety of Mendelian and complex traits.
Dr. Basil Darras
Associate Neurologist-in-Chief, Chief-Division of Clinical Neurology, Director- Neuromuscular Center, Boston Children's Hospital. Dr. Darras' research is focused on the molecular genetics, diagnostics and therapeutics of pediatric neuromuscular diseases.
PhD candidate, jointly supervised by Dr. Borner (Max Planck Institute of Biochemistry, Germany) and Professor Robinson, Cambridge Institute for Medical Research. The focus of Alex's PhD research involves studying the AP-4 adaptor complex using CRISPR CAS9 and other tools.
Darius Ebrahimi-Fakhari, MD, PhD
Resident physician in the combined Pediatrics & Child Neurology Program at Boston Children's Hospital / Harvard Medical School. Darius works at the Department of Neurology, Boston Children's Hospital. His group does research in Neurology, Neuroscience, and Cell Biology. Their current projects include "Development Of An In Vitro Model Of SPG47-Associated Hereditary Spastic Paraplegia Using Patient iPSC-Derived Neurons To Support Unbiased Screening Of Novel Therapeutic Approaches To Treatment", and "An International Registry and Natural History Study For AP-4-associated Hereditary Spastic Paraplegia".
Dr. John Fink
Professor, Department of Neurology, Director, Neurogenetic Disorders Program, University of Michigan. In addition to being one of the world's foremost investigators of upper motor neuron disorders, Dr. Fink also maintains the largest clinic in the U.S. for persons with HSP or PLS.
Dr. Steven Gray
Associate Professor at UT Southwestern Medical Center. Dr. Gray's core research focus is to develop adeno-associated virus (AAV) gene transfer vector systems, for clinically-relevant global gene transfer to the central and peripheral nervous system.
Dr. Jennifer Hirst
Principal Research Associate, Robinson lab, Cambridge Institute for Medical Research. Dr. Hirst is a cell biologist who discovered the AP-4 and AP-5 adaptor complexes and has been studying their function and link with Hereditary Spastic Paraplegia.
Robin Kleiman, PhD
Senior Director, Translational Cellular Sciences, Biogen. Dr. Kleiman's team within Research and Early Development is focused on establishing translatable human disease models of CNS disorders to enable testing of novel therapeutic molecules.
Professor Margaret (Scottie) Robinson
Principal Investigator, Cambridge Institute for Medical Research. Prof Robinson has worked on identifying and characterizing adaptor protein complexes for 30 years.
Mustafa Sahin, MD, PhD
Director, Translational Neuroscience Center, Professor in Neurology, Harvard Medical School. Dr. Sahin's lab investigates the normal cellular functions of signaling pathways implicated in neurological disease. His research is focused on proteins affected in TSC and SMA.
Sarah Sheikh, MD MSc MRCP
Executive Director of Neuroscience Clinical Development, I&I, at Celgene. Before joining Celgene, she held leadership positions of increasing responsibility in clinical development at Biogen where, most recently, she was the Head of Multiple Sclerosis and Neurorepair and the director of the Anne Young (MGH-Biogen) Neurology Fellowship Program.