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 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.
The awards:
Team ALD (Adrenoleukodystrophy): Florian Eichler, Massachusetts General Hospital/Harvard Medical School; pilot study on adeno-associated virus serotype 9-mediated gene therapy for adrenomyeloneuropathy.
Team CHI (Congenital Hyperinsulinism): Diva De Leon, Children’s Hospital of Philadelphia; pilot study of the efficacy and safety of sirolimus in the treatment of congenital hyperinsulinism.
Team Cure CMD (Congenital Muscular Dystrophy): Pam Van Ry, University of Nevada School of Medicine; postdoctoral fellowship to study galectin-1 protein therapy for the treatment for laminin alpha2 related congenital muscular dystrophy.
Team FH (Familial Hypercholesterolemia): Chutikarn Butkinaree, Clinical Research Institute of Montreal, Canada; postdoctoral fellowship to study the molecular mechanisms of PCSK9-induced LDLR degradation.
Team FARA (Friedreich’s Ataxia Research Alliance): Yogesh Chutake, University of Oklahoma HSC; postdoctoral fellowship to study the reversal of epigenetic promoter silencing in Friedreich ataxia by histone deacetylase inhibitors.
Team Spin Factor for Hemophilia: Oscar Marcos-Contreras, Children’s Hospital of Philadelphia; hemophilia postdoctoral fellowship for $35,000, enhancing 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, Texas Tech University Health Sciences Center; pilot study to evaluate PLK1 inhibitors in a pre-clinical LAM animal model.
Team LAM (Lymphangioleiomyomatosis): Vera Krymskaya, University of Pennsylvania; pilot study of STAT3 in pulmonary lymphangioleiomyomatosis (LAM).
Team ML4 (Mucolipidosis type 4): Susan Slaugenhaupt, Massachusetts General Hospital; pilot study targeting miR-155 as a therapy for mucolipidosis IV.
Team MPS (Mucopolysaccharidosis): Alena Svatkova, University of Minnesota; postdoctoral fellowship to unravel the basis of white matter disease in mucopolysaccharidosis type I–a DTI study.
Team NPC (Niemann Pick type C): Ashley Bush, Australia Fellow; The Florey Institute of Neuroscience and Mental Health, Australia; pilot study of dual targeting of defective lipid and metal pathways in Niemann-Pick type C disease: an in vitro pilot study.
Team NPC (Niemann Pick type C): Brittney Gurda, University of Pennsylvania, School of Veterinary Medicine; postdoctoral 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 Pedalers: Daniel Marenda, Drexel University; pilot study to understand TCF4 function in post-mitotic neuron synaptic plasticity.
Team Pitt Hopkins Pedalers: Benjamin Philpot, University of North Carolina, Chapel Hill; pilot study to identify molecular targets for Pitt-Hopkins Syndrome treatments.
Team RASopathies: Maria Kontaridis, Beth Israel Deaconess Medical Center/Harvard Medical School; pilot 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, University Medical Center Hamburg-Eppendorf, Germany; postdoctoral fellowship to quantitatively describe the clinical course of Canavan disease.