2022 Million Dollar Bike Ride Pilot Grant Awardees

37 researchers across 30 institutions were awarded grants for 30 different rare diseases, with money raised from the 2022 Million Dollar Bike Ride. Over $2.6 million dollars were awarded in total.

 

 2022 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, SETBP1
MDBR, SETBP1, 2022-1
Brain Penetrant Therapeutic Proteins for SETBP1 Haploinsufficiency Disorder
MDBR, SETBP1
MDBR, SETBP1, 2022-1

Barbara Bailus

Keck Graduate Institute

$45,832.00

MDBR, SETBP1
MDBR, SETBP1, 2022-1
MDBR, SETBP1
MDBR, SETBP1, 2022-1
Deciphering the neurobiological pathways involved in heterogenous SETBP1 haploinsufficiency disorder using human brain organoids and transcriptomics
MDBR, SETBP1
MDBR, SETBP1, 2022-1

Simon E Fisher: Max Planck Institute for Psycholinguistics, The Netherlands

Maggie MK Wong: Max Planck Institute for Psycholinguistics, The Netherlands

Bregje W van Bon: Radboud University Medical Center, The Netherlands

$45,832.00

MDBR, SETBP1
MDBR, SETBP1, 2022-1
MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2022-1
Development of proof-of-concept Pitt-Hopkins Syndrome therapy by upregulation of TCF4 transcriptional activity
MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2022-1

Tonis Timmusk

Tallinn University of Technology

$71,650.00

MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2022-1
MDBR, STXBP1
MDBR, STXBP1, 2022-1
Fingerprinting a multiomics biomarker profile in patients with STXBP1-RD
MDBR, STXBP1
MDBR, STXBP1, 2022-1

Pasquale Striano

University of Genoa

$87,125.00

MDBR, STXBP1
MDBR, STXBP1, 2022-1
MDBR, STXBP1
MDBR, STXBP1, 2022-1
Assessing and quantifying gait problems in patients with STXBP1-related disorders using three-dimensional gait analysis
MDBR, STXBP1
MDBR, STXBP1, 2022-1

Sarah Weckhuysen

VIB-CMN, University of Antwerp

$87,125.00

MDBR, STXBP1
MDBR, STXBP1, 2022-1
MDBR, LNS
MDBR, LNS, 2022-1
Dopamine in Lesch-Nyhan Disease
MDBR, LNS
MDBR, LNS, 2022-1

Jasper Visser

Radboud University Medical Center, Nijmegen, The Netherlands

$85,779.00

MDBR, LNS
MDBR, LNS, 2022-1
MDBR, AT
MDBR, AT, 2022-1
PET Radiotracer development based on existing ATM-inhibitors
MDBR, AT
MDBR, AT, 2022-1

Jacob Hooker

Massachusetts General Hospital

$116,172.00

MDBR, AT
MDBR, AT, 2022-1

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