Orphan Disease Center

Rare Disease Overview ODC Opportunities

2014 MDBR Research Grant Awards

We are pleased to announce the following recipients of 2014 Million Dollar Bike Ride research grants!

Team ALD
Florian Eichler, MD
Massachusetts General Hospital / Harvard Medical School
Adrenoleukodystrophy pilot for $50,000
Adeno-associated virus serotype 9-mediated gene therapy for Adrenomyeloneuropathy

Team CHI
Diva De Leon, MD, MSCE
Children's Hospital of Philadelphia
Congenital Hyperinsulinism pilot for $60,000
Pilot study of the efficacy and safety of Sirolimus in the treatment of Congenital Hyperinsulinism

Team Cure CMD
Pam Van Ry, PhD
University of Nevada School of Medicine
Congenital Muscular Dystrophy Postdoctoral fellowship for $35,000
Galectin-1 protein therapy for the treatment for Laminin alpha2 related Congenital Muscular Dystrophy

Team FH
Chutikarn Butkinaree, PhD
Clinical Research Institute of Montreal, Canada
Familial Hypercholesterolemia Postdoctoral fellowship for $35,000
The molecular mechanisms of PCSK9-induced LDLR degradation

Team FARA
Yogesh Chutake, PhD
University of Oklahoma HSC
Friedreich’s Ataxia Postdoctoral fellowship for $35,000
Reversal of epigenetic promoter silencing in Friedreich ataxia by histone deacetylase inhibitors

Team Spin Factor for Hemophilia
Oscar Marcos-Contreras, PhD
The 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
Aristotelis Astreinidis, PhD
Texas Tech University Health Sciences Center
Lymphangioleiomyomatosis pilot for $60,000
Evaluation of PLK1 inhibitors in a pre-clinical LAM animal model

Vera Krymskaya, Ph.D., M.B.A.
University of Pennsylvania
Lymphangioleiomyomatosis pilot for $60,000
STAT3 in pulmonary lymphangioleiomyomatosis (LAM)

Team ML4
Susan Slaugenhaupt, PhD
Massachusetts General Hospital
Mucolipidosis Type IV pilot for $50,000
Targeting miR-155 as a therapy for mucolipidosis IV

Team MPS
Alena Svatkova, MD
University of Minnesota
Mucopolysaccharidosis Postdoctoral fellowship for $35,000
Unraveling the basis of white matter disease in mucopolysaccharidosis type I – a DTI study

Team NPC
Ashley Bush, MB BS, DPM, FRANZCP, PhD, FTSE, NHMRC Australia Fellow
The Florey Institute of Neuroscience and Mental Health, Australia
Niemann-Pick Type C pilot for $50,000
Dual targeting of defective lipid and metal pathways in Niemann-Pick type C disease: an in vitro pilot study

Brittney Gurda, PhD
University of Pennsylvania, School of Veterinary Medicine
Niemann-Pick Type C Postdoctoral fellowship for $35,000
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, PhD
Drexel University
Pitt Hopkins pilot for $55,000
Understanding TCF4 function in post-mitotic neuron synaptic plasticity

Benjamin Philpot, PhD
University of North Carolina, Chapel Hill
Pitt Hopkins pilot for $55,000
Identification of molecular targets for Pitt-Hopkins Syndrome treatments

Team RASopathies
Maria Kontaridis, PhD
Beth Israel Deaconess Medical Center/Harvard Medical School
RASopathies pilot for $65,000
Delineating the cause of gastrointestinal abnormalities in RASopathy disorders using human inducible pluripotent stem cells (iPSCs)

Team NTSAD
Annette Bley, MD
University Medical Center Hamburg-Eppendorf, Germany
Tay-Sachs Postdoctoral fellowship for $35,000
Quantitative description of the clinical course of Canavan disease