Dr. Steven Grey
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. Xin Chen
Is the lead under Dr. Grey’s team working on Genetic Therapy for SPG50
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.
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 functionality and the link with Hereditary Spastic Paraplegia.
Dr. Alexandria Davies
Is focused on studying the AP-4 adaptor complex using CRISPR CAS9 and other tools. Her PhD research has been focused on the function of the AP-4 complex, particularly the cellular consequences of losing AP-4 and how this may lead to the severe neuropathology associated with AP-4 deficiency
Dr. Darius Ebrahimi-Fakhari
Works at the Department of Neurology, Boston Children's Hospital. His group does research in Neurology, Neuroscience, and Cell Biology. Current projects include "Development Of An In Vitro Model Of SPG47/50/51 & 52-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. Colin Ross
Works on incorporate genomics into guiding, optimizing, and developing novel therapeutics to improve the safety and effectiveness of medications. He developed a novel gene-delivery treatment for LPL Deficiency that received regulatory approval. One of the projects his team will be taking on is developing nanomedicine strategies to treat genetic diseases affecting the brain.
Dr. Sean Ekins
CEO of Collaboration Pharmaceuticals offers drug discovery skills tailored to rare and neglected diseases.
Dr. Sotirios Kampranis
Works in the area of Synthetic Biology/Metabolic Engineering, aiming to devise methods to produce high-value natural products in engineered organisms. He is a close family friend and has been helping cure Michael since day 1.
Dr. Cathleen (Cat) Lutz
Is the Director of the Mouse Repository and the Rare and Orphan Disease Center at The Jackson Laboratory. She has fiscal and managerial oversight of a growing collection of more than 8,500 unique strains, including over 1,700 live colonies for distribution to the scientific community. As part of the Mouse Repository program, Dr. Lutz is the Principal Investigator on a number of NIH-sponsored resource grants, including the Mutant Mouse Regional and Research Center at JAX. Dr. Lutz also serves as the Director of In Vivo Pharmacology and Efficacy Testing Program in Bar Harbor, which interfaces with biotechnology and pharmaceutical companies to pursue novel therapeutics across a variety of therapeutic areas
Dr. Saamir Zuberi
Leads the Rare and Orphan Disease mouse model development portfolio and has managed the completion of over 200 new mouse models in the last five years using CRISPR/Cas9, Embryonic stem cell and transgenic strategies.
Dr. Stephen Capuzzi
Is an expert in the fields of chemical information and computational modeling. He is particularly interested in the use of computational methodologies to accelerate rare disease drug discovery efforts.
Dr. Horacio Bach
Dr. Bach is an Adjunct Professor at University Of British Columbia. His current research interests include: signal transduction, mechanism elucidation of virulence factors of pathogenic bacteria, the link between Mycobacterium paratuberculosis and inflammatory bowel diseases, the design of novel antibodies for therapeutic and diagnostic tests using antibody engineering, and applications of nanotechnology in Medicine