Newswise — PHILADELPHIA — The Orphan Disease Center at the Perelman School of Medicine at the University of Pennsylvania, has awarded its inaugural grants funded by proceeds from the 2014 Million Dollar Bike Ride. Thirteen institutions – from academia in the US, Canada, Germany, and Australia – received grants ranging from $35,000 to $60,000 from funds raised by 13 disease-specific cycling teams.
Orphan diseases represent a collection of disorders that afflict less than 200,000 individuals for any single disease type. Despite their rarity in the population, there are more than 7,000 distinct orphan diseases. In all, over 25 million people in the United States suffer from complications associated with from orphan diseases; thousands die from them each year. Despite this toll, research in most disease types has lagged far behind other major areas due to a combination of technological and funding limitations.
The Million Dollar Bike Ride does not benefit just one rare disease, but many. Individual cyclists register and raise money for their specific orphan/rare disease foundation. Funds raised support pilot research projects and investigators studying a specific rare disease. These awards were made through a competitive call for proposals related to the needs of the individual disease foundations and reviewed by experts in each disease area.
Team ALD (Adrenoleukodystrophy)Florian Eichler, MDMassachusetts General Hospital / Harvard Medical SchoolPilot study on adeno-associated virus serotype 9-mediated gene therapy for adrenomyeloneuropathy
Team CHI (Congenital Hyperinsulinism)Diva De Leon, MD, MSCEChildren's Hospital of PhiladelphiaPilot study of the efficacy and safety of sirolimus in the treatment of congenital hyperinsulinism
Team Cure CMD (Congenital Muscular Dystrophy)Pam Van Ry, PhDUniversity of Nevada School of MedicinePostdoctoral fellowship to study galectin-1 protein therapy for the treatment for laminin alpha2 related congenital muscular dystrophy
Team FH (Familial Hypercholesterolemia)Chutikarn Butkinaree, PhDClinical Research Institute of Montreal, CanadaPostdoctoral fellowship to study the molecular mechanisms of PCSK9-induced LDLR degradation
Team FARA (Friedreich’s Ataxia Research Alliance)Yogesh Chutake, PhDUniversity of Oklahoma HSCPostdoctoral fellowship Reversal of epigenetic promoter silencing in Friedreich ataxia by histone deacetylase inhibitors
Team Spin Factor for HemophiliaOscar Marcos-Contreras, PhDThe Children's Hospital of PhiladelphiaHemophilia Postdoctoral fellowship for $35,000Enhancing coagulation factor expression in skeletal muscle by augmenting the endogenous post-translational protein modification machinery: application to hemophilia gene therapy
Team LAM (Lymphangioleiomyomatosis)Aristotelis Astreinidis, PhDTexas Tech University Health Sciences CenterPilot study to evaluate PLK1 inhibitors in a pre-clinical LAM animal model
Vera Krymskaya, PhD, MBAUniversity of PennsylvaniaPilot study of STAT3 in pulmonary lymphangioleiomyomatosis (LAM)
Team ML4 (Mucolipidosis type 4)Susan Slaugenhaupt, PhDMassachusetts General HospitalPilot study to study targeting miR-155 as a therapy for mucolipidosis IV
Team MPS (Mucopolysaccharidosis)Alena Svatkova, MDUniversity of MinnesotaPostdoctoral fellowship to unravel the basis of white matter disease in mucopolysaccharidosis type I – a DTI study
Team NPC (Niemann Pick type C)Ashley Bush, MB BS, DPM, FRANZCP, PhD, FTSE, NHMRC Australia FellowThe Florey Institute of Neuroscience and Mental Health, AustraliaPilot study of dual targeting of defective lipid and metal pathways in Niemann-Pick type C disease: an in vitro pilot study
Brittney Gurda, PhDUniversity of Pennsylvania, School of Veterinary MedicinePostdoctoral fellowship to study CNS gene therapy to restore NPC1 protein expression in cerebellar Purkinje cells and delay or prevent disease onset in feline Niemann-Pick type C1 (NPC1) disease
Team Pitt Hopkins PedalersDaniel Marenda, PhDDrexel UniversityPilot study to understand TCF4 function in post-mitotic neuron synaptic plasticity
Benjamin Philpot, PhDUniversity of North Carolina, Chapel HillPilot study to identify molecular targets for Pitt-Hopkins Syndrome treatments
Team RASopathiesMaria Kontaridis, PhDBeth Israel Deaconess Medical Center/Harvard Medical SchoolPilot study to delineate the cause of gastrointestinal abnormalities in RASopathy disorders using human inducible pluripotent stem cells (iPSCs)
Team NTSAD (National Tay-Sachs and Allied Diseases Association)Annette Bley, MDUniversity Medical Center Hamburg-Eppendorf, GermanyPostdoctoral fellowship to quantitatively describe the clinical course of Canavan disease