2020 Million Dollar Bike Ride Pilot Grant Awardees

33 researchers across 27 institutions were awarded grants for 28 different rare diseases (listed below), with money raised from the 2020 Million Dollar Bike Ride. Over $2.2 million dollars were awarded in total.

 

 2020 MDBR Pilot Grant Awardees

Featured
MDBR, NUBPL, 2020
MDBR, NUBPL
Characterizing the Natural History of NUBPL-related Mitochondrial Disease
MDBR, NUBPL, 2020
MDBR, NUBPL

Zarazuela Zolkipli-Cunningham

Children's Hospital of Philadelphia

$75,360

MDBR, NUBPL, 2020
MDBR, NUBPL
MDBR, BPAN, 2020
MDBR, BPAN
Deciphering the causes of mitochondrial network disruption in WDR45-defective cells and their contribution to the BPAN pathology
MDBR, BPAN, 2020
MDBR, BPAN

Fulvio Reggiori

University Medical Center Groningen (UMCG)

$71,471

MDBR, BPAN, 2020
MDBR, BPAN
MDBR, MSUD, 2020
MDBR, MSUD
Neurocognitive Outcomes and Quality of Life in Adults with MSUD
MDBR, MSUD, 2020
MDBR, MSUD

Jessica Gold

Children's Hospital of Philadelphia

$54,465

MDBR, MSUD, 2020
MDBR, MSUD
MDBR, MPS, 2020
MDBR, MPS
Tissue inflammation in Mucopolysaccharidoses type II disease: molecular mechanism and therapy
MDBR, MPS, 2020
MDBR, MPS

Manoj Pandey

Cincinnati Children's Hospital Medical Center

$64,485

MDBR, MPS, 2020
MDBR, MPS
MDBR, FOP, 2020
MDBR, FOP
Role of the GM-CSF Pathway in Heterotopic Ossification Associated with Fibrodysplasia Ossificans Progressiva (FOP) and Novel Therapeutic Strategies to Suppress the Inflammatory Response
MDBR, FOP, 2020
MDBR, FOP

Eileen M. Shore

University of Pennsylvania School of Medicine

$40,000

MDBR, FOP, 2020
MDBR, FOP
MDBR, FOP, 2020
MDBR, FOP
Influence of microbiota on innate immune responses and heterotopic ossification in fibrodysplasia ossificans progressiva (FOP)
MDBR, FOP, 2020
MDBR, FOP

Daniel Perrien

Emory University

$40,000

MDBR, FOP, 2020
MDBR, FOP
MDBR, Castleman, 2020
MDBR, Castleman
JAK1/2 as a Central Regulator of iMCD Pathogenesis and Novel Therapeutic Target
MDBR, Castleman, 2020
MDBR, Castleman

David Fajgenbaum

University of Pennsylvania

$64,590

MDBR, Castleman, 2020
MDBR, Castleman
MDBR, APBD, 2020
MDBR, APBD
Conquer from Within – Treating APBD by viral delivery of cross-correction-enabled amylase
MDBR, APBD, 2020
MDBR, APBD

Felix Nitschke

University of Texas Southwestern Medical Center

$121,268

MDBR, APBD, 2020
MDBR, APBD
MDBR, NEHI, 2020
MDBR, NEHI
Dissecting the Genetic and Genomic Basis of Neuroendocrine Cell Hyperplasia of Infancy (NEHI)
MDBR, NEHI, 2020
MDBR, NEHI

Xin Sun

The Regents of the Univ. of Calif., U.C. San Diego

$103,066

MDBR, NEHI, 2020
MDBR, NEHI
MDBR, IBM, 2020
MDBR, IBM
Efficacy of rapamycin and sodium phenylbutyrate in a xenograft model of IBM
MDBR, IBM, 2020
MDBR, IBM

Thomas Lloyd

Johns Hopkins University

$68,245

MDBR, IBM, 2020
MDBR, IBM
MDBR, NPC, 2020
MDBR, NPC
Deciphering variants of unknown significance in Niemann Pick Type C
MDBR, NPC, 2020
MDBR, NPC

Evgueni Ivakine

Hospital for Sick Children

$47,630

MDBR, NPC, 2020
MDBR, NPC
MDBR, Glut1, 2020
MDBR, GLUT1
Identification of GLUT1 Activating Compounds in a Mouse Model
MDBR, Glut1, 2020
MDBR, GLUT1

Jason Park

University of Texas Southwestern Medical Center

$64,200

MDBR, Glut1, 2020
MDBR, GLUT1
MDBR, LGDALMI, 2020
MDBR, LGDALMI
Understanding the effects of Sirolimus/Zolendronic acid treatment on bone remodeling activity in patients with Gorham-Stout disease
MDBR, LGDALMI, 2020
MDBR, LGDALMI

Andrea Del Fattore

Bambino Gesù Children’s Hospital

$81,965

MDBR, LGDALMI, 2020
MDBR, LGDALMI
MDBR, 2020, FDMAS
MDBR, FDMAS
Osteoclasts and pain in Fibrous Dysplasia: investigating and targeting the molecular links in a transgenic mouse model (EF1α-GsαR201C mice) of human Fibrous Dysplasia
MDBR, 2020, FDMAS
MDBR, FDMAS

Mara Riminucci

Sapienza University of Rome

$66,236

MDBR, 2020, FDMAS
MDBR, FDMAS
MDBR, TBCK, 2020
MDBR, TBCK
Platforms for the identification and validation of candidate small molecule treatments for TBCK Syndrome
MDBR, TBCK, 2020
MDBR, TBCK

Jay Vivian

University of Kansas Medical Center

$50,600

MDBR, TBCK, 2020
MDBR, TBCK
MDBR, STXBP1, 2020
MDBR, STXBP1
Discovering genetic modifiers of STXBP1 protein stability
MDBR, STXBP1, 2020
MDBR, STXBP1

Jimmy L. Holder, Jr.

Baylor College of Medicine

$71,658

MDBR, STXBP1, 2020
MDBR, STXBP1
MDBR, STXBP1, 2020
MDBR, STXBP1
Circuit mechanism of STXPB1-encephalopathy interrogated using human brain organoids
MDBR, STXBP1, 2020
MDBR, STXBP1

Christopher Makinson

Columbia University

$71,658

MDBR, STXBP1, 2020
MDBR, STXBP1
MDBR, SRS, 2020
MDBR, SRS
Pharmacologic modulation of the polyamine metabolic pathway to restore normal spermidine/spermine ratios and ameliorate symptoms in Snyder-Robinson Syndrome models
MDBR, SRS, 2020
MDBR, SRS

Robert Casero

Tracy Murray Stewart

Johns Hopkins University

$68,840

MDBR, SRS, 2020
MDBR, SRS
MDBR, Pitt Hopkins, 2020
MDBR, Pitt Hopkins
Reinstatement of Tcf4 function to treat Pitt-Hopkins Syndrome
MDBR, Pitt Hopkins, 2020
MDBR, Pitt Hopkins

Andrew Kennedy

Bates College

$71,643

MDBR, Pitt Hopkins, 2020
MDBR, Pitt Hopkins
MDBR, DC, 2020
MDBR, DC
Characterization of Telomere Maintenance in Tumor Models of Dyskeratosis Congenita
MDBR, DC, 2020
MDBR, DC

Judy Wong

University of British Columbia

$66,440

MDBR, DC, 2020
MDBR, DC
MDBR, CHM, 2020
MDBR, CHM
Pharmacological induction of autophagy to treat CHM
MDBR, CHM, 2020
MDBR, CHM

Ivan Conte

University of Naples Federico II

$64,990

MDBR, CHM, 2020
MDBR, CHM
MDBR, CHI, 2020
MDBR, CHI
Maximising the Utilisation of the Hyperinsulinism Global Registry (HIGR) [Max HIGR]
MDBR, CHI, 2020
MDBR, CHI

Indraneel Banerjee

University of Manchester, Royal Manchester Children's Hospital

$73,190

MDBR, CHI, 2020
MDBR, CHI
MDBR, CADASIL, 2020
MDBR, CADASIL
HB-EGF/EGFR signaling in capillary dysfunction in CADASIL
MDBR, CADASIL, 2020
MDBR, CADASIL

Masayo Koide

University of Vermont Larner College of Medicine

$82,795

MDBR, CADASIL, 2020
MDBR, CADASIL
MDBR, AT, 2020
MDBR, AT
Development of at-home speech and wearable sensor biomarkers for ataxia-telangiectasia
MDBR, AT, 2020
MDBR, AT

Annopum Gupta

Massachusetts General Hospital and Harvard Medical School

$129,898

MDBR, AT, 2020
MDBR, AT
Featured
MDBR, RASopthies
MDBR, RASopathies, 2020-1
Understanding RASopathies to better inform diagnosis and treatment.
MDBR, RASopthies
MDBR, RASopathies, 2020-1

Vanessa Fear

The University of Western Australia

$69,885

MDBR, RASopthies
MDBR, RASopathies, 2020-1
MDBR, CMD
MDBR, CMD, 2020-1
Targeting muscle stem cells for the treatment of Collagen VI muscular dystrophies
MDBR, CMD
MDBR, CMD, 2020-1

Nicholas Dumont

CHU Sainte-Justine research center (University of Montreal)

$42,406

MDBR, CMD
MDBR, CMD, 2020-1
MDBR, CMD
MDBR, CMD, 2020-1
Novel tools for drug repurposing in COL6 myopathies: accelerating the route towards therapy.
MDBR, CMD
MDBR, CMD, 2020-1

Paolo Bonaldo

University of Padova, Department of Molecular Medicine

$42,406

MDBR, CMD
MDBR, CMD, 2020-1
MDBR, CMT
MDBR, CMT, 2020-1
Global Registry for Inherited Neuropathies (GRIN) - Natural History Study Data Assessment of Charcot-Marie-Tooth (CMT) Patients (age 3-25) to Support Virtual Clinical Studies
MDBR, CMT
MDBR, CMT, 2020-1

Florian Thomas

Hackensack University Medical Center

$55,090

MDBR, CMT
MDBR, CMT, 2020-1
MDBR, LAM
MDBR, LAM, 2020-1
Role of CTHRC1 in the Pathogenesis and Therapy of LAM
MDBR, LAM
MDBR, LAM, 2020-1

Elizabeth Henske

BWH

$70,769

MDBR, LAM
MDBR, LAM, 2020-1
MDBR, SETBP1
MDBR, SETBP1, 2020-1
REACT: a reversible knock-out mouse model to explore treatment strategies for the SETBP1 haploinsufficiency disease
MDBR, SETBP1
MDBR, SETBP1, 2020-1

Rocco Piazza

University of Milano - Bicocca

$40,373

MDBR, SETBP1
MDBR, SETBP1, 2020-1
MDBR, SETBP1
MDBR, SETBP1, 2020-1
Neuromodulation of prefrontal circuits in a mouse model of SETBP1 disorder
MDBR, SETBP1
MDBR, SETBP1, 2020-1

Audrey Brumback

The University of Texas at Austin

$40,373

MDBR, SETBP1
MDBR, SETBP1, 2020-1
MDBR, Cohen
MDBR, 2020-1, Cohen
Determination of the retinal functions of VPS13B using a murine model and assessment of exon-skipping as a therapeutic strategy for Cohen Syndrome in patient-derived cells
MDBR, Cohen
MDBR, 2020-1, Cohen

Laurence Faivre

CHU Dijon Bourgogne

$66,560

MDBR, Cohen
MDBR, 2020-1, Cohen
MDBR, MPS Gene Spotlight, MPS
MDBR, 2020-1, MPS Gene Spotlight, MPS
The “molecular tweezer” CLR01 as a new potent drug candidate to slow CNS pathology progression in MPS-I
MDBR, MPS Gene Spotlight, MPS
MDBR, 2020-1, MPS Gene Spotlight, MPS

Alessandro Fraldi

University of Naples "Federico", Dept of Translational Medicine

$65,040

MDBR, MPS Gene Spotlight, MPS
MDBR, 2020-1, MPS Gene Spotlight, MPS

For a complete list of ODC grant awardees, click here.