2024 Million Dollar Bike Ride Pilot Grant Awardees

41 researchers across 34 institutions were awarded grants for 34 different rare diseases, with money raised from the 2024 Million Dollar Bike Ride. Over $2.6 million dollars were awarded in total.

 

 2024 MDBR Pilot Grant Awardees

Featured
MDBR, 2024, Castleman
MDBR, Castleman
Investigating clonal expansion of pathogenic T cells in idiopathic multicentric Castleman disease
MDBR, 2024, Castleman
MDBR, Castleman

David Fajgenbaum

University of Pennsylvania

$58,775

MDBR, 2024, Castleman
MDBR, Castleman
MDBR, 2024, SYNGAP
MDBR, SYNGAP
Targeting biomolecular condensates, as a novel approach to ameliorate SYNGAP1-related synaptopathy
MDBR, 2024, SYNGAP
MDBR, SYNGAP

Kristian Strømgaard

University of Copenhagen

$74,851

MDBR, 2024, SYNGAP
MDBR, SYNGAP
MDBR, 2024, SETBP1
MDBR, SETBP1
Mapping Molecular and Behavioral Impacts of SETBP1 Deficiency in Zebrafish
MDBR, 2024, SETBP1
MDBR, SETBP1

Alexander Little

McMaster University

$68,544

MDBR, 2024, SETBP1
MDBR, SETBP1
MDBR, 2024, SETBP1
MDBR, SCN2A
Assessing Excitation-Transcription Coupling in SCN2A-Related Disorder Mouse Models
MDBR, 2024, SETBP1
MDBR, SCN2A

Jennifer Kearney

Northwestern University

$62,492

MDBR, 2024, SETBP1
MDBR, SCN2A
MDBR, 2024, CHI
MDBR, CHI
Leveraging Human iPSC Derived Beta Cells to Investigate the Impact of Novel Therapeutics in Patients with Congenital Hyperinsulinism
MDBR, 2024, CHI
MDBR, CHI

Mansa Krishnamurthy

Cincinnati Children's Hospital Medical Center

$77,165

MDBR, 2024, CHI
MDBR, CHI
MDBR, 2024, CHI
MDBR, CHI
Safety, Accuracy, and Feasibility of Continuous Glucose Monitoring in Infants in the Inpatient NICU Setting with Hyperinsulinism and Hypoglycemia
MDBR, 2024, CHI
MDBR, CHI

Paul Thornton

Cook Children's Medical Center

$77,165

MDBR, 2024, CHI
MDBR, CHI
MDBR, 2024, Pitt Hopkins
MDBR, Pitt Hopkins
Tcf4 in gut development; investigating underlying causes of gastro-intestinal problems in patients with Pitt Hopkins syndrome
MDBR, 2024, Pitt Hopkins
MDBR, Pitt Hopkins

Simone Mesman

University of Amsterdam

$58,602

MDBR, 2024, Pitt Hopkins
MDBR, Pitt Hopkins
MDBR, 2024, NEHI
MDBR, NEHI
Transcriptomic Signatures in Neuroendocrine Cell Hyperplasia of Infancy (NEHI)
MDBR, 2024, NEHI
MDBR, NEHI

Sharon McGrath-Morrow

Children's Hospital of Philadelphia

$83,154

MDBR, 2024, NEHI
MDBR, NEHI
MDBR, 2024, NEHI
MDBR, NEHI
Bronchoalveolar Lavage Fluid-Derived Organoids as Translational Models for Neuroendocrine cell hyperplasia of infancy
MDBR, 2024, NEHI
MDBR, NEHI

James Hagood

University of North Carolina

$83,154

MDBR, 2024, NEHI
MDBR, NEHI
MDBR, 2024, STXBP1
MDBR, STXBP1
Quantifying Movement Patterns in Children with STXBP1 Related Disorders
MDBR, 2024, STXBP1
MDBR, STXBP1

Laura Prosser

Children's Hospital of Philadelphia

$69,708

MDBR, 2024, STXBP1
MDBR, STXBP1
MDBR, 2024, STXBP1
MDBR, STXBP1
A deep screen of RNA-based therapeutics for STXBP1 syndrome
MDBR, 2024, STXBP1
MDBR, STXBP1

Chaolin Zhang

The Trustees of Columbia University in the City of New York

$69,708

MDBR, 2024, STXBP1
MDBR, STXBP1
MDBR, 2024, LNS
MDBR, LNS
Exploring the profile of Extracellular Vesicles (EVs) in Lesch-Nyhan Syndrome (LNS)
MDBR, 2024, LNS
MDBR, LNS

Giulia Bernardini

Università degli Studi di Siena, Dipartimento di Biotecnologie, Chimica e Farmacia

$57,332

MDBR, 2024, LNS
MDBR, LNS
MDBR, 2024, CLA
MDBR, CLA
Deciphering the role of ephrin B2 mutation in the pathogenesis of central conducting lymphatic anomaly
MDBR, 2024, CLA
MDBR, CLA

Shoshana Greenberger

Newcastle University

$62,398

MDBR, 2024, CLA
MDBR, CLA
MDBR, 2024, LAM
MDBR, LAM
Serum biomarkers for diagnosis and sirolimus response in lymphangioleiomyomatosis
MDBR, 2024, LAM
MDBR, LAM

Elizabeth P Henske

Brigham and Women's Hospital, Harvard Medical School

$73,958

MDBR, 2024, LAM
MDBR, LAM
MDBR, 2024, CMD
MDBR, CMD
Deciphering the splicing order of COL6A1-3 pre-mRNAs to improve the prognosis and treatment of collagen VI-related muscular dystrophies
MDBR, 2024, CMD
MDBR, CMD

Karine Choquet

Université de Sherbrooke

$46,611

MDBR, 2024, CMD
MDBR, CMD
MDBR, 2024, CMD
MDBR, CMD
Novel insights into cellular interaction in collagen VI muscular dystrophy
MDBR, 2024, CMD
MDBR, CMD

Malte Tiburcy

University Medical Center Göttingen

$46,611

MDBR, 2024, CMD
MDBR, CMD
MDBR, APBD, 2024
MDBR, APBD
From mouse to human – Establishing novel biomarkers for APBD
MDBR, APBD, 2024
MDBR, APBD

Felix Nitschke

University of Texas Southwestern Medical Center

$56,857

MDBR, APBD, 2024
MDBR, APBD
MDBR, APBD, 2024
MDBR, APBD
Development of glycogen synthase inhibitors for APBD
MDBR, APBD, 2024
MDBR, APBD

Wyatt Yue

Newcastle University

$56,857

MDBR, APBD, 2024
MDBR, APBD
MDBR, 2024, CADASIL
MDBR, CADASIL
Small molecule inhibition of NOTCH3 conformational alterations
MDBR, 2024, CADASIL
MDBR, CADASIL

Michael Wang

University of Michigan

$101,776

MDBR, 2024, CADASIL
MDBR, CADASIL
MDBR, 2024, Cohen
MDBR, Cohen
Understanding the role of the lipid transport protein VPS13B in Cohen syndrome pathogenesis
MDBR, 2024, Cohen
MDBR, Cohen

Berrak Ugur

Yale University

$98,828

MDBR, 2024, Cohen
MDBR, Cohen
MDBR, 2024, CRB1
MDBR, CRB1
Using human retinal organoids to discover mechanisms and therapies for CRB1 retinopathy
MDBR, 2024, CRB1
MDBR, CRB1

Brian Ballios

University Health Network

$66,991

MDBR, 2024, CRB1
MDBR, CRB1
MDBR, 2024, CSNK2A1
MDBR, CSNK2A1
Deciphering perturbations of primary cilia in Okur-Chung neurodevelopmental disorder
MDBR, 2024, CSNK2A1
MDBR, CSNK2A1

Abdelhalim Loukil

Sanford Research Institute

$60,013

MDBR, 2024, CSNK2A1
MDBR, CSNK2A1
MDBR, 2024, AT
MDBR, AT
In Vivo, Non-Viral Base Editing To Correct AT Variants In Brain, Blood, Lung, and Liver
MDBR, 2024, AT
MDBR, AT

Xizhen Lian

Johns Hopkins University

$41,740

MDBR, 2024, AT
MDBR, AT
MDBR, 2024, CDKL5
MDBR, CDKL5
Investigating Excitation/Inhibition Balance in Cortical-Thalamic Circuitry in CDKL5 Deficiency Disorder Using Human-Derived Assembloids
MDBR, 2024, CDKL5
MDBR, CDKL5

Francesca Puppo

University of California, San Diego

$61,007

MDBR, 2024, CDKL5
MDBR, CDKL5
MDBR, 2024, TBC1D24
MDBR, TBC1D24
Epilepsy linked toTBC1D24 Loss: pH-Targeted Pharmacological and Nanotechnological Interventions
MDBR, 2024, TBC1D24
MDBR, TBC1D24

Caterina Michetti

University of Genoa

$62,937

MDBR, 2024, TBC1D24
MDBR, TBC1D24
MDBR, 2024, RASopathies
MDBR, RASopthies
An iPSC-based Platform for Characterization of Neuronal Circuit Dysfunction in RASopathies
MDBR, 2024, RASopathies
MDBR, RASopthies

Sattar Khoshkhoo

Brigham and Women's Hospital

$58,222

MDBR, 2024, RASopathies
MDBR, RASopthies
MDBR, 2024, SGS
MDBR, SGS
Investigating SETBP1 pathogenic variants in lung malformation and function using human induced pluripotent stem cell-derived organoids
MDBR, 2024, SGS
MDBR, SGS

Amy Wong

Toronto Hospital for Sick Children

$70,000

MDBR, 2024, SGS
MDBR, SGS
MDBR, 2024, CTNNB1
MDBR, CTNNB1
A novel RNA therapeutic for the treatment of CTNNB1 syndrome
MDBR, 2024, CTNNB1
MDBR, CTNNB1

Jeff Coller

Johns Hopkins University

$63,312

MDBR, 2024, CTNNB1
MDBR, CTNNB1
MDBR, 2024, DUP15Q
MDBR, DUP15Q
A comprehensive functional analysis of Dup15q ‎genes: phenotypic effects and treatment ‎following restoration‎
MDBR, 2024, DUP15Q
MDBR, DUP15Q

Alon Zaslaver

The Hebrew University

$47,038

MDBR, 2024, DUP15Q
MDBR, DUP15Q
MDBR, 2024, CACNA1A
MDBR, CACNA1A
Molecular and Functional Mechanisms Underlying Cortical Activity in CACNA1A Epilepsy
MDBR, 2024, CACNA1A
MDBR, CACNA1A

Fikri Birey

Emory University

$57,450

MDBR, 2024, CACNA1A
MDBR, CACNA1A
Featured
MDBR, RING14
MDBR, RING14, 2024-1
Exploring Chromosomal Instability and Cellular Phenotypes in Ring Chromosome 14 Syndrome
MDBR, RING14
MDBR, RING14, 2024-1

Matthew Tegtmeyer

Purdue University

$60,840.00

MDBR, RING14
MDBR, RING14, 2024-1
MDBR, KCNT1
MDBR, KCNT1, 2024-1
Characterization of seizures in a new mouse model of KCNT1 G288S
MDBR, KCNT1
MDBR, KCNT1, 2024-1

Jill Silverman

UC Davis

$68,667

MDBR, KCNT1
MDBR, KCNT1, 2024-1
MDBR, ZC4H2
MDBR, ZC4H2, 2024-1
Molecular Pathogenesis and Epigenetic Rescue of Novel Human Models of ZC4H2-associated rare disorders.
MDBR, ZC4H2
MDBR, ZC4H2, 2024-1

Julian Halmai

UC Davis

$54,187

MDBR, ZC4H2
MDBR, ZC4H2, 2024-1
MDBR, DC
MDBR, DC, 2024-1
CROSS-TISSUE ULTRASTRUCTURAL IMAGING FOR DISCOVERING FIBROTIC DETERMINANTS AND ACTIONABLE TARGETS IN DC/TBD
MDBR, DC
MDBR, DC, 2024-1

Alfredo Rodríguez

National Autonomous University of Mexico (UNAM)

$62,158

MDBR, DC
MDBR, DC, 2024-1
MDBR, NBIA(BPAN)
MDBR, NBIABPAN, 2024-1
Charting WDR45-dependent genes for neurodegeneration at a single-cell resolution
MDBR, NBIA(BPAN)
MDBR, NBIABPAN, 2024-1

Young Ah Seo

Regents of the University of Michigan

$75,815

MDBR, NBIA(BPAN)
MDBR, NBIABPAN, 2024-1
MDBR, MPS
MDBR, MPS, 2024-1
Short-interfering RNA to reduce heparan sulfate in Sanfilippo B syndrome
MDBR, MPS
MDBR, MPS, 2024-1

Patricia Dickson

Washington University in St. Louis

$60,000

MDBR, MPS
MDBR, MPS, 2024-1
MDBR, GLUT1
MDBR, Glut1, 2024-1
Does Treatment with Diazoxide or a novel form of Diazoxide Choline elevate the plasma glucose levels in GLUT1 Deficiency Syndrome thus potentially increasing glucose transport the blood brain barrier?
MDBR, GLUT1
MDBR, Glut1, 2024-1

Paul Thornton

Cook Children's Medical Center

$60,367

MDBR, GLUT1
MDBR, Glut1, 2024-1
MDBR, MPS Gene Spotlight
MDBR, MPS Gene Spotlight, 2024-1
Selective HDAC6 inhibitors as a novel treatment for CNS pathology in MPS-I
MDBR, MPS Gene Spotlight
MDBR, MPS Gene Spotlight, 2024-1

Nicolina Cristina Sorrentino

University of Naples " Federico II"

$60,378

MDBR, MPS Gene Spotlight
MDBR, MPS Gene Spotlight, 2024-1
MDBR, FDMAS
MDBR, FDMAS, 2024-1
Targeting GNAS-Driven Pathway for Precision Therapy of Fibrous Dysplasia
MDBR, FDMAS
MDBR, FDMAS, 2024-1

J. Silvio Gutkind

University of California, San Diego

$80,468.00

MDBR, FDMAS
MDBR, FDMAS, 2024-1
MDBR, FDMAS
MDBR, FDMAS, 2024-1
Elucidating a link between microfractures and fibrous dysplasia bone pain in mice
MDBR, FDMAS
MDBR, FDMAS, 2024-1

Ariane Zamarioli

Ribeirao Preto Medical School

$40,234.00

MDBR, FDMAS
MDBR, FDMAS, 2024-1

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