Dr. Lawrence Goldstein
Howard Hughes Medical Institute
University of California San Diego
Dr. Goldstein is working to generate true human neuronal models of Niemann Pick Type C in cell culture and plans to analyze neuronal phenotypes by applying many of the assays and insights he has been developing from his studies in Alzheimer’s Disease (e.g, amyloid precursor protein synthesis, transport, proteolysis, JNK activation and phophorylation of tau and other substrates).
Dr. Christoper P. Austin
National Chemical Genomics Center National Institutes of Health
Dr. Chris Austin is working on a project using highly sophisticated robotic technology to test over 4,000 approved FDA drugs against multiple lines of Niemann Pick Type C skin cells to determine if off label drugs can be used to treat NPC. The use of small molecule tools and screening technologies has traditionally been restricted largely to the private sector. Dr. Austin has begun an ambitious program in chemical genomics to bring the power of small molecule screening, chemistry and informatics to the elucidation of gene function in the public sector and for rare disease such as Niemann Pick Type C. Co-funded project with the Ara Parseghian Medical Research Foundation.
Dr. Jung Suh
CHORIs Center For Nutrition and Metabolsim
Dr. Jung Suh of Children’s Hospital Oakland Research Institute (CHORI) under the direction of Dr. Bruce Ames is working on a metabolomic analysis of amino acids and related metabolites in Niemann Pick Type C disease. CHORI will conduct mass spectrometric analysis of plasma, red blood cells, buccal epithelial cells and saliva. Analysis will involve the application of liquid chromatography-linked tandem mass spectrometric methods developed by Dr. Suh. All analytical sample preparation and mass spectrometric analysis work will be performed in the laboratory of Dr. Ames at CHORI.
Dr. David J. Begley
Pharmacology and Therapeutics, Blood Brain Barrier Expert
Kings College London
Dr. David J. Begley is the author of more than 60 key peer-reviewed papers on blood-brain barrier (BBB) function and drug delivery to the central nervous system. Dr. Begley is currently studying hydroxy propel beta cyclodextrin (HPBCD) to determine if this sugar compound crosses the blood brain barrier. Co-funded project with The Hadely Hope Fund.
Silicon Valley HealthCare Company Helping Patients Start Virtual BioTech Companies
CollabRx builds and operates Virtual Biotechsfor foundations and patients who urgently seek treatments and cures for their diseases. CollabRx has helped a small group of families with NPC children create SOAR-NPC (Support of Accelerated Research for Niemann-Pick disease Type C).
The SOAR-NPC Virtual Biotech is a cutting edge research collaborative between four leading Niemann Pick Type C researchers and universities including Dr. Daniel Ory of Wasington University in St. Louis, Dr. Francis Platt at Oxford University in England, Dr. Yiannis Ioannou of Mt. Sinai and Dr. Steven Walkley of Albert Einstein College of Medicine.