2021 Million Dollar Bike Ride Pilot Grant Awardees

37 researchers across 32 institutions were awarded grants for 28 different rare diseases, with money raised from the 2021 Million Dollar Bike Ride. Over $2.2 million dollars were awarded in total.

 

 2021 MDBR Pilot Grant Awardees

Featured
MDBR, CLA, LGDALMI, 2021
MDBR, CLA, LGDALMI
Identifying Unmet Care and Communication Needs of Families Affected by Complex Lymphatic Anomalies
MDBR, CLA, LGDALMI, 2021
MDBR, CLA, LGDALMI

Bryan Sisk

Washington University School of Medicine

$53,460

MDBR, CLA, LGDALMI, 2021
MDBR, CLA, LGDALMI
MDBR, FOP, 2021
MDBR, FOP
Novel, point of care biomarker to detect pre-clinical flares for people living with fibrodysplasia ossificans progressiva (FOP)
MDBR, FOP, 2021
MDBR, FOP

Nezihi Murat Karabacak

Massachusetts General Hospital

$64,000

MDBR, FOP, 2021
MDBR, FOP
MDBR, MPS, 2021
MDBR, MPS
Understanding the role of inflammation in MPSIIIA disease to identify therapeutic approaches for older patients without treatment options
MDBR, MPS, 2021
MDBR, MPS

Brian Bigger

University of Manchester

$64,015

MDBR, MPS, 2021
MDBR, MPS
MDBR, MPS Gene Spotlight, 2021
MDBR, MPS Gene Spotlight, MPS
CNS disease severity assessment with quantitative neuroimaging
MDBR, MPS Gene Spotlight, 2021
MDBR, MPS Gene Spotlight, MPS

Igor Nestrasil

University of Minnesota

$64,645

MDBR, MPS Gene Spotlight, 2021
MDBR, MPS Gene Spotlight, MPS
MDBR, STXBP1, 2021
MDBR, STXBP1
Rescue of STXBP1 encephalopathies with small molecules in mouse models in vivo
MDBR, STXBP1, 2021
MDBR, STXBP1

Jacqueline Burré

Weill Medical College of Cornell University

$80,070

MDBR, STXBP1, 2021
MDBR, STXBP1
MDBR, STXBP1, 2021
MDBR, STXBP1
A novel mouse model for developing therapeutic approaches of STXBP1 encephalopathy
MDBR, STXBP1, 2021
MDBR, STXBP1

Mingshan Xue

Baylor College of Medicine

$80,070

MDBR, STXBP1, 2021
MDBR, STXBP1
MDBR, Castleman, 2021
MDBR, Castleman
CXCL13 as a novel biomarker and therapeutic target in idiopathic multicentric Castleman disease
MDBR, Castleman, 2021
MDBR, Castleman

David Fajgenbaum

University of Pennsylvania

$64,205

MDBR, Castleman, 2021
MDBR, Castleman
MDBR, NPC, 2021
MDBR, NPC
Leveraging proteostasis to improve Niemann-Pick C gene therapy
MDBR, NPC, 2021
MDBR, NPC

Mark Schultz

Regents of the University of Michigan

$50,010

MDBR, NPC, 2021
MDBR, NPC
MDBR, CHI, 2021
MDBR, CHI
Natural History of the Hyperinsulinism Hyperammonemia Syndrome – A Multi-center Observational Study Incorporating Patient-centered Data through the HI Global Registry
MDBR, CHI, 2021
MDBR, CHI

Elizabeth Rosenfeld

Children's Hospital of Philadelphia

$73,045

MDBR, CHI, 2021
MDBR, CHI
MDBR, TBCK, 2021
MDBR, TBCK
Evaluating the Effects of Selected Small-Molecules on a Zebrafish Model of TBCK Syndrome
MDBR, TBCK, 2021
MDBR, TBCK

Gerald B. Downes

University of Massachusetts Amherst

$50,400

MDBR, TBCK, 2021
MDBR, TBCK
MDBR, LAM, 2021
MDBR, LAM
Identify genetic regulatory circuitry driving the development of rapamycin tolerance
MDBR, LAM, 2021
MDBR, LAM

Yan Tang

Brigham and Women's Hospital

$73,491

MDBR, LAM, 2021
MDBR, LAM
MDBR, SETBP1, 2021
MDBR, SETBP1
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis and treatment.
MDBR, SETBP1, 2021
MDBR, SETBP1

Vanessa Fear

Telethon Kids Institute, University of Western Australia

$45,733

MDBR, SETBP1, 2021
MDBR, SETBP1
MDBR, SETBP1, 2021
MDBR, SETBP1
Toward Structure-based Drug-Discovery for SETBP1
MDBR, SETBP1, 2021
MDBR, SETBP1

Jerome Baudry

The University of Alabama in Huntsville

$45,733

MDBR, SETBP1, 2021
MDBR, SETBP1
MDBR, CF, 2021
MDBR, CF
Exercise as Medicine in Cystic Fibrosis: A pilot study assessing the impact of a telehealth exercise program on adherence and self-efficacy
MDBR, CF, 2021
MDBR, CF

Stefanie Krick

The University of Alabama at Birmingham

$117,655

MDBR, CF, 2021
MDBR, CF
MDBR, DC, 2021
MDBR, DC
Targeting the shelterin component TINF2 in telomere diseases
MDBR, DC, 2021
MDBR, DC

Suneet Agarwal

Boston Children's Hospital

$65,445

MDBR, DC, 2021
MDBR, DC
MDBR, FDMAS, 2021
MDBR, FDMAS
Identification and signaling characterization of GNASR201H/C selective inhibitors for FD/MAS
MDBR, FDMAS, 2021
MDBR, FDMAS

Edward Hsiao

Kelly Wentworth

University of California, San Francisco

$53,791

MDBR, FDMAS, 2021
MDBR, FDMAS
MDBR, FDMAS, 2021
MDBR, FDMAS
Structure activity relationship studies of compounds to treat FD/MAS
MDBR, FDMAS, 2021
MDBR, FDMAS

Fernando Fierro

Charles Hoffman

University of California Davis

$53,791

MDBR, FDMAS, 2021
MDBR, FDMAS
MDBR, FDMAS, 2021
MDBR, FDMAS
Unraveling the role of Adiponectin-expressing bone marrow stromal cells in the cellular pathogenesis of Fibrous Dysplasia
MDBR, FDMAS, 2021
MDBR, FDMAS

Biagio Palmisano

Sapienza University of Rome

$53,791

MDBR, FDMAS, 2021
MDBR, FDMAS
MDBR, NBIABPAN, 2021
MDBR, NBIA(BPAN)
Reversing Brain Iron Overload in BPAN by a Natural Small Molecule
MDBR, NBIABPAN, 2021
MDBR, NBIA(BPAN)

Young-Ah Seo

University of Michigan

$66,366

MDBR, NBIABPAN, 2021
MDBR, NBIA(BPAN)
MDBR, Cohen, 2021
MDBR, Cohen
Membrane homeostasis as potential therapeutic angle in Cohen Syndrome
MDBR, Cohen, 2021
MDBR, Cohen

Jens Luders

Institute for Research in Biomedicine, Barcelona, Spain

$47,161.00

MDBR, Cohen, 2021
MDBR, Cohen
MDBR, Cohen, 2021
MDBR, Cohen
Determination of pathomechanisms and assessment of therapeutic strategies for Cohen Syndrome in patient derived cells and a murine model
MDBR, Cohen, 2021
MDBR, Cohen

Muhammad Ansar

Jules-Gonin Eye Hospital, Ophthalmology Department of the University of Lausanne, Lausanne, Switzerland

$115,000

MDBR, Cohen, 2021
MDBR, Cohen
MDBR, NEHI, 2021
MDBR, NEHI
High Resolution Ventilation and Perfusion MRI Assessment of Neuroendocrine Cell Hyperplasia of Infancy (NEHI) in Infants and Young Children: Technical Feasibility and Direct Clinical Application
MDBR, NEHI, 2021
MDBR, NEHI

Katie Krone

Boston Children's Hospital

$41,000

MDBR, NEHI, 2021
MDBR, NEHI
MDBR, NEHI, 2021
MDBR, NEHI
Spatial Transcriptomics to Identify Cellular Alterations in NEHI
MDBR, NEHI, 2021
MDBR, NEHI

W. Adam Gower

University of North Carolina at Chapel Hill School of Medicine

$41,000

MDBR, NEHI, 2021
MDBR, NEHI
MDBR, MSUD, 2021
MDBR, MSUD
Targeting mTOR signaling to improve neurologic outcomes in MSUD
MDBR, MSUD, 2021
MDBR, MSUD

Rebecca Ahrens-Nicklas

The Children's Hospital of Philadelphia and The University of Pennsylvania

MDBR, MSUD, 2021
MDBR, MSUD
MDBR, NUBPL, 2021
MDBR, NUBPL
Pre-clinical investigation of candidate therapies for NUBPL disease
MDBR, NUBPL, 2021
MDBR, NUBPL

Neal Mathew

Children's Hospital of Philadelphia

$50,198

MDBR, NUBPL, 2021
MDBR, NUBPL
MDBR, SRS, 2021
MDBR, SRS
Untargeted metabolomics to map defects arising in Snyder-Robinson syndrome
MDBR, SRS, 2021
MDBR, SRS

Ankur Jain

Whitehead Institute for Biomedical Research

$74,691

MDBR, SRS, 2021
MDBR, SRS
MDBR, ML4, 2021
MDBR, ML4
Measuring neurotransmitter metabolites for biomarker discovery in Mucolipidosis IV
MDBR, ML4, 2021
MDBR, ML4

Yulia Grishchuk

MGH

$64,335

MDBR, ML4, 2021
MDBR, ML4
MDBR, CHM, 2021
MDBR, CHM
Ace-tRNA readthrough therapy for choroideremia caused by nonsense mutations
MDBR, CHM, 2021
MDBR, CHM

David M. Gamm

University of Wisconsin-Madison

$64,360

MDBR, CHM, 2021
MDBR, CHM
MDBR, CADASIL, 2021
MDBR, CADASIL
Single-nuclei RNA-seq for CADASIL understanding and therapeutic target discovery
MDBR, CADASIL, 2021
MDBR, CADASIL

Israel Fernández Cadenas

Fundació Privada Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau

$60,228

MDBR, CADASIL, 2021
MDBR, CADASIL
MDBR, CADASIL, 2021
MDBR, CADASIL
Modelling CADASIL with patient iPSC-based 3D vessel-on-chip
MDBR, CADASIL, 2021
MDBR, CADASIL

Saskia Lesnik-Oberstein

Leiden University Medical Center

$60,228

MDBR, CADASIL, 2021
MDBR, CADASIL
Featured
MDBR, CMD
MDBR, CMD, 2021-1
DYSTRO-SMARTY: A novel nanotechnology platform for delivery of nucleic acids to treat Collagen VI-related Congenital Muscular Dystrophy
MDBR, CMD
MDBR, CMD, 2021-1

Cecilia Jimenez-Mallebrera

Hospital Sant Joan de Deu

$48,876

MDBR, CMD
MDBR, CMD, 2021-1
MDBR, CMD
MDBR, CMD, 2021-1
Studying in-situ, in-vivo, and in-silico the pleiotropic action of collagen-VI to identify potential late-onset risks in COL6-CMD patients
MDBR, CMD
MDBR, CMD, 2021-1

Jeanette Erdmann

Universität zu Lübeck

$48,876

MDBR, CMD
MDBR, CMD, 2021-1
MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2021-1
Rescuing oligodendrogenesis and myelination as possible treatment for Pitt-Hopkins patients
MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2021-1

Simone Mesman

Swammerdam Institute of Life Sciences, University of Amsterdam

$78,530

MDBR, Pitt Hopkins
MDBR, Pitt Hopkins, 2021-1
MDBR, GLUT1
MDBR, Glut1, 2021-1
Multiplex analysis of variant effects for SLC2A1 gene
MDBR, GLUT1
MDBR, Glut1, 2021-1

Christina Gurnett

Washington University, St Louis

$64,465

MDBR, GLUT1
MDBR, Glut1, 2021-1
MDBR, APBD
MDBR, APBD, 2021-1
Discovery of glycogen synthase inhibitors for validation as a novel therapeutic target for adult polyglucosan body disease (APBD)
MDBR, APBD
MDBR, APBD, 2021-1

Wyatt Yue

Newcastle University, UK

$99,025

MDBR, APBD
MDBR, APBD, 2021-1
MDBR, RASopthies
MDBR, RASopathies, 2021-1
Discovery of new therapies for hypertrophic cardiomyopathy in RASopathies using an innovative hiPSC-based high-throughput drug screening platform
MDBR, RASopthies
MDBR, RASopathies, 2021-1

Fabrice Jaffré

Weill Cornell Medical College

$75,431

MDBR, RASopthies
MDBR, RASopathies, 2021-1
MDBR, CDKL5
MDBR, CDKL5, 2021-1
EXPLOITING NEURONS- AND BRAIN-DERIVED EXOSOMES AS BIOMARKER FOR CDKL5 DEFICIENCY DISORDER
MDBR, CDKL5
MDBR, CDKL5, 2021-1

Maurizio Giustetto

Univ. of Torino - Dept. of Neuroscience

$75,000

MDBR, CDKL5
MDBR, CDKL5, 2021-1

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