2023 Million Dollar Bike Ride Pilot Grant Awardees

38 researchers across 32 institutions were awarded grants for 31 different rare diseases, with money raised from the 2023 Million Dollar Bike Ride. Over $2.4 million dollars were awarded in total.

 

 2023 MDBR Pilot Grant Awardees

Featured
MDBR, 2023, DC
MDBR, DC
Nucleoside therapy for telomere diseases
MDBR, 2023, DC
MDBR, DC

Agarwal Suneet

Boston Children's Hospital

$63,000.00

MDBR, 2023, DC
MDBR, DC
MDBR, 2023, NPC
MDBR, NPC
Targeting the endocannabinoid system to treat epilepsy in Niemann Pick disease type C
MDBR, 2023, NPC
MDBR, NPC

Lola Ledesma

Centro Biologia Molecular Severo Ochoa

$40,140.00

MDBR, 2023, NPC
MDBR, NPC
MDBR, 2023, MPS
MDBR, MPS
Antisense Oligonucleotide as Substrate Reduction Therapy for Mucopolysaccharidoses type III
MDBR, 2023, MPS
MDBR, MPS

Manor Yehoshua

Sheba Medical Center

$57,645.00

MDBR, 2023, MPS
MDBR, MPS
MDBR, 2023, RASopathies
MDBR, RASopthies
Social Outcomes in Adults with RASopathies: The SOAR Study
MDBR, 2023, RASopathies
MDBR, RASopthies

Jonathan Payne

Murdoch Children's Research Institute

$60,755.00

MDBR, 2023, RASopathies
MDBR, RASopthies
MDBR, 2023, CLA
MDBR, CLA
CLA Chatbot: Developing a Scalable Artificial Intelligence-Powered Communication Tool for Families Affected by Complex Lymphatic Anomalies
MDBR, 2023, CLA
MDBR, CLA

Bryan Sisk

Washington University

$60,679.00

MDBR, 2023, CLA
MDBR, CLA
MDBR, 2023, ZC4H2
MDBR, ZC4H2
Neuromuscular Activation of Muscle in Children with the ZC4H2 Mutation
MDBR, 2023, ZC4H2
MDBR, ZC4H2

Richard Lieber

Shirley Ryan AbilityLab

$61,815.00

MDBR, 2023, ZC4H2
MDBR, ZC4H2
MDBR, 2023, NBIABPAN
MDBR, NBIA(BPAN)
The mitochondrial-related defects in WDR45-defective cells and how to reverse them
MDBR, 2023, NBIABPAN
MDBR, NBIA(BPAN)

Mario MautheUniversity

Medical Center Groningen (UMCG)

$60,000.00

MDBR, 2023, NBIABPAN
MDBR, NBIA(BPAN)
MDBR, 2023, NBIABPAN
MDBR, NBIA(BPAN)
Advancing gene therapy for BPAN
MDBR, 2023, NBIABPAN
MDBR, NBIA(BPAN)

Manju Kurian

UCL

$60,000.00

MDBR, 2023, NBIABPAN
MDBR, NBIA(BPAN)
MDBR, 2023, CDKL5
MDBR, CDKL5
Exploring CDKL5 Impact on Extracellular Vesicle-Mediated Cell-to-Cell Communication: Uncovering Hidden Pathways and Innovative Therapeutic Avenues
MDBR, 2023, CDKL5
MDBR, CDKL5

Maurizio Giustetto

University of Torino

$60,960.00

MDBR, 2023, CDKL5
MDBR, CDKL5
MDBR, 2023, Castleman
MDBR, Castleman
Development of the novel treatment of idiopathic multicentric Castleman Disease using patientderived cell transplantation in an immunodeficient mouse
MDBR, 2023, Castleman
MDBR, Castleman

Takuya Harada

National Hospital Organization Kyushu Medical Center

$63,270.00

MDBR, 2023, Castleman
MDBR, Castleman
MDBR, 2023, CADASIL
MDBR, CADASIL
Immunotherapy and improved diagnosis and prognosis of the small vessel disease CADASIL
MDBR, 2023, CADASIL
MDBR, CADASIL

Helena Karlström

Karolinska Institutet

$109,856.00

MDBR, 2023, CADASIL
MDBR, CADASIL
MDBR, 2023, SCN2A
MDBR, SCN2A
Channel scaffolding and its contribution to SCN2A disorders
MDBR, 2023, SCN2A
MDBR, SCN2A

Paul Jenkins

University of Michigan Medical School

$61,280.00

MDBR, 2023, SCN2A
MDBR, SCN2A
MDBR, 2023, STXBP1
MDBR, STXBP1
Systematic dissection of STXBP1 3’ UTR regulation to facilitate therapeutic development
MDBR, 2023, STXBP1
MDBR, STXBP1

Xuebing Wu

Columbia University

$75,460.00

MDBR, 2023, STXBP1
MDBR, STXBP1
MDBR, 2023, STXBP1
MDBR, STXBP1
Integrative omics: A novel approach to unravelling the complexity of STXBP1 encephalopathies
MDBR, 2023, STXBP1
MDBR, STXBP1

Wendy Gold

The University of Sydney

$75,460.00

MDBR, 2023, STXBP1
MDBR, STXBP1
MDBR, 2023, CMD
MDBR, CMD
Developing peptide-conjugated antisense oligonucleotide therapy for COL6-related congenital muscular dystrophy
MDBR, 2023, CMD
MDBR, CMD

Haiyan Zhou

University College London

$70,133.00

MDBR, 2023, CMD
MDBR, CMD
MDBR, 2023, CMD
MDBR, CMD
ADAR mediated RNA editing for treatment of collagen VI related muscular dystrophy
MDBR, 2023, CMD
MDBR, CMD

Russell Butterfield

University of Utah

$70,133.00

MDBR, 2023, CMD
MDBR, CMD
MDBR, 2023, TBC1D24
MDBR, TBC1D24
pH-dependent mechanisms of disease caused by TBC1D24 mutations
MDBR, 2023, TBC1D24
MDBR, TBC1D24

Dennis Brown

Massachusetts General Hospital

$60,000.00

MDBR, 2023, TBC1D24
MDBR, TBC1D24
MDBR, 2023, SETBP1
MDBR, SETBP1
Linking SETBP1-HD EEG Biomarkers to Clinical Profiles
MDBR, 2023, SETBP1
MDBR, SETBP1

Caitlin Hudac

University of South Carolina

$88,740.00

MDBR, 2023, SETBP1
MDBR, SETBP1
MDBR, 2023, TBC1D24
MDBR, TBC1D24
Clinical trial readiness through longitudinal disease reconstruction in TBC1D24-related disorders
MDBR, 2023, TBC1D24
MDBR, TBC1D24

Jillian McKee

University of Pennsylvania/ Children's Hospital of Philadelphia

$26,962.00

MDBR, 2023, TBC1D24
MDBR, TBC1D24
MDBR, 2023, CHI
MDBR, CHI
Congenital hyperinsulinism models for novel drug discovery
MDBR, 2023, CHI
MDBR, CHI

Michael Kalwat

Indiana Biosciences Research Institute

$70,200.00

MDBR, 2023, CHI
MDBR, CHI
MDBR, 2023, LAM
MDBR, LAM
Targeting immunosuppression in LAM
MDBR, 2023, LAM
MDBR, LAM

Yan Tang

Brigham and Women's Hospital, Harvard Medical School

$71,051.00

MDBR, 2023, LAM
MDBR, LAM
MDBR, 2023, Cohen
MDBR, Cohen
Rescue of defective lipid handling in Cohen syndrome
MDBR, 2023, Cohen
MDBR, Cohen

Jens Luders

Institute for Research in Biomedicine (IRB Barcelona), Spain

$83,282.00

MDBR, 2023, Cohen
MDBR, Cohen
MDBR, 2023, APBD
MDBR, APBD
Deep Tissue and Cellular Phenotyping of APBD: A Bench to Bedside Approach
MDBR, 2023, APBD
MDBR, APBD

Priya Kishnani

Duke University Medical Center

$50,000.00

MDBR, 2023, APBD
MDBR, APBD
MDBR, 2023, APBD
MDBR, APBD
Combinations of small molecule as potential therapeutic agents for APBD
MDBR, 2023, APBD
MDBR, APBD

Or Kakhlon

Research Fund of the Hadassah Medical Organization

$50,000.00

MDBR, 2023, APBD
MDBR, APBD
MDBR, 2023, FDMAS
MDBR, FDMAS
Testing the specificity and efficacy of compounds that inhibit cAMP signaling, for the development of potential therapeutics for FD/MAS
MDBR, 2023, FDMAS
MDBR, FDMAS

Fernando Fierro

University of California Davis

$80,642.00

MDBR, 2023, FDMAS
MDBR, FDMAS
MDBR, 2023, FDMAS
MDBR, FDMAS
Spatial transcriptomics to elucidate the mechanism of anti-RANKL inhibition of fibrous dysplasia bone lesions
MDBR, 2023, FDMAS
MDBR, FDMAS

Julia Charles

Brigham and Women's Hospital

$40,321.00

MDBR, 2023, FDMAS
MDBR, FDMAS
MDBR, 2023, FDMAS
MDBR, FDMAS
Probing Central and Peripheral Mechanisms of Pain and Dysfunction in Fibrous Dysplasia/McCune-Albright
MDBR, 2023, FDMAS
MDBR, FDMAS

Jaymin Upadhyay

Boston Children's Hospital

$40,321.00

MDBR, 2023, FDMAS
MDBR, FDMAS
MDBR, 2023, Glut1
MDBR, GLUT1
Preclinical Validation of potential GLUT1 inducing agents for GLUT1 Deficiency Syndrome (GLUT1 DS).
MDBR, 2023, Glut1
MDBR, GLUT1

Alex MacKenzie

Children’s Hospital of Eastern Ontario, University of Ottawa

$61,901.00

MDBR, 2023, Glut1
MDBR, GLUT1
MDBR, 2023, DUP15Q
MDBR, DUP15Q
Deep phenotyping of mouse models of UBE3A gain-of-function
MDBR, 2023, DUP15Q
MDBR, DUP15Q

Jason Yi

Washington University School of Medicine

$47,158.00

MDBR, 2023, DUP15Q
MDBR, DUP15Q
MDBR, 2023, CACNA1A
MDBR, CACNA1A
Development of a Novel Viral Vector Gene Therapy Approach to treat CACNA1A Cerebellar Disorders
MDBR, 2023, CACNA1A
MDBR, CACNA1A

Samuel Young

University of Iowa

$73,731.00

MDBR, 2023, CACNA1A
MDBR, CACNA1A
Featured
MDBR, RING14
MDBR, RING14, 2023-1
A Multi-omics Investigation of Ring14
MDBR, RING14
MDBR, RING14, 2023-1

Heather Mefford

St. Jude Children's Research Hospital

$67,897.00

MDBR, RING14
MDBR, RING14, 2023-1
MDBR, KCNT1
MDBR, KCNT1, 2023-1
Novel Adeno-associated viral vector (AAV) mediated RNA editing treatment for KCNT1 epilepsy
MDBR, KCNT1
MDBR, KCNT1, 2023-1

Rajvinder Karda

University College London

$70,619.00

MDBR, KCNT1
MDBR, KCNT1, 2023-1
MDBR, AT
MDBR, AT, 2023-1
SKIP-AT: a comprehensive, systematic platform approach for targeted exon skipping of ATM
MDBR, AT
MDBR, AT, 2023-1

Matthis Synofzik

Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany

$53,240.00

MDBR, AT
MDBR, AT, 2023-1
MDBR, MPS Gene Spotlight
MDBR, MPS Gene Spotlight, 2023-1
CSF dynamics in mucopolysaccharidosis type I
MDBR, MPS Gene Spotlight
MDBR, MPS Gene Spotlight, 2023-1

Igor Nestrasil

University of Minnesota

$60,655.00

MDBR, MPS Gene Spotlight
MDBR, MPS Gene Spotlight, 2023-1
MDBR, CHM
MDBR, CHM, 2023-1
To Study the potential for Collagen Mimetic Peptides to reduce progressive damage to the Bruch's-RPE-Photoreceptor Complex in Choroideremia.
MDBR, CHM
MDBR, CHM, 2023-1

Malia Edwards

Johns Hopkins University

$64,735.00

MDBR, CHM
MDBR, CHM, 2023-1
MDBR, SYNGAP
MDBR, SYNGAP, 2023-1
Leveraging predictive models to design high-throughput assays to resolve variants of uncertain significance (VUS) in SYNGAP1
MDBR, SYNGAP
MDBR, SYNGAP, 2023-1

Gemma Carvill

Northwestern University

$61,222.00

MDBR, SYNGAP
MDBR, SYNGAP, 2023-1
MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2023-1
Identification of vulnerable cell types and quantification of cell type-specific differential gene expression in the Pitt-Hopkins Syndrome mouse model
MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2023-1

Brady Maher

Johns Hopkins University School of Medicine

$73,473.00

MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2023-1
MDBR, LNS
MDBR, LNS, 2023-1
Unravelling HGprt functioning in fore- and midbrain development using brain organoids
MDBR, LNS
MDBR, LNS, 2023-1

Sharon Kolk

Radboud University, Donders Institute for Neuroscience

$68,367.00

MDBR, LNS
MDBR, LNS, 2023-1

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