Grants Awarded

Since 2003, the Cystinosis Research Foundation has raised and committed more than $55 million for cystinosis research, making the CRF the largest provider of grants for cystinosis research in the world. Our dedicated researchers and scientists are working in 12 countries around the world to find better treatments and a cure for cystinosis.

Francesco Bellomo, PhD, Principal Investigator
Francesco Emma, MD, Co-Principal Investigator
Bambino Gesù Children’s Hospital, Rome, Italy
“Ketogenic Diet for Nephropathic Cystinosis”
$200,310.00 – Two-year grant

Sergio Catz, PhD, Research Mentor
Nadia Zgajnar, PhD, Research Fellow
The Scripps Research Institute, La Jolla, California
“Role of Cystinosin in the Cross-Talk Between Late Endosomal, Endoplasmic Reticulum and Autophagic Functions”
$150,000.00 – Two-year grant

Stéphanie Cherqui, PhD, Principal Investigator
University of California, San Diego, La Jolla, California
“Mechanism of Bone Marrow Stem Cell-Mediated Therapy in the Mouse Model of Cystinosis”
$362,746.00 – Two-year grant

*Pierre Courtoy, MD, PhD, Co-Principal Investigator (Brussels)
Christophe Pierreux, PhD, Co-Principal Investigator (Brussels)
Laura Rita Rega, PhD, Co-Principal Investigator (Rome)
de Duve Institute, Brussels, Belgium
Bambino Gesù Children’s Hospital, Rome, Italy
“Secondary Treatment of Ctns-/- Mice with Dibasic Amino-Acids: Safety, Efficacy and Mechanism(s)”
$190,707.00 – Two-year grant

Andrea Del Fattore, PhD, Research Mentor
Giulia Battafarano, PhD, Research Fellow
Bambino Gesù Children’s Hospital, Rome, Italy
“Cathepsin D Inhibition to Rescue Osteoblast Function in Cystinosis”
$62,975.00 – One-year grant

Bruno Gasnier, PhD, Research Mentor
Yann Teriz, MSc, Research Fellow
CNRS/ Paris Descartes University, Paris, France
“A Novel Absorptive Epithelium Defect in Cystinosis”
$75,000.00 – One-year grant

*Robert Mak, MD, PhD, Principal Investigator
University of California, San Diego, La Jolla, California
“Impact of NLRP3 Inflammasome Signaling on Fanconi Syndrome and Progressive Kidney Disease in Infantile Nephropathic Cystinosis”
$348,660.00 – Two-year grant 

*Reza Seyedsadjadi, MD, Principal Investigator
Lee Rubin, PhD, Co-Principal Investigator
Massachusetts General Hospital, Boston, Massachusetts
“Clinical, Neurophysiological and Pathological Characterization of Myopathy and Dysphagia in Adults with Nephropathic Cystinosis; Evaluation for Inherent Muscle Resilience and Regenerative Capacity”
$317,121.00 – Two-year grant

Matias Simons, MD, Research Mentor
Zvonimir Marelja, PhD, Research Fellow
Institut Imagine, Paris, France
“Elucidation of Tissue-Specific Roles of Cystinosin in mTORC1 Signaling and Mitochondrial Metabolism”
$145,000.00 – Two-year grant

CRF Gift Award
Stéphanie Cherqui, PhD
University of California, San Diego, La Jolla, California
Stem Cell and Gene Therapy Clinical Trial
$765,192 – Four-year gift installments

2018 Fall CRF Research Grant Awards

Corinne Antignac, MD, PhD, Principal Investigator
IMAGINE Institute, Paris, France
“Characterization of mTORC1 Signaling in Early Pathogenesis of Cystinosis “
$336,400 – Two-year grant (February 1, 2019 – January 31, 2021)

Olivier Devuyst, MD, PhD, Research Mentor
Zhiyog Chen, PhD, Research Fellow
University of Zürich, Zürich, Sweden
“Pathogenesis of Cystinosis: Studies Using Transgenic Zebrafish Models”
$225,000 – Three-year grant (February 1, 2019 – January 31, 2022)

Morgan Fedorchak, PhD, Principal Investigator
Kanwal Nischal, MD, FRCO, Co-Principal Investigator
University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania
“Development of a Topical, Controlled Release Cysteamine Eye Drop”
$150,145 – One-year grant (October 19, 2018 – October 18, 2019)

Benjamin Freedman, PhD, Principal Investigator
University of Washington, Seattle, Washington
“Developing a Therapeutic Strategy for Cystinotic Nephropathy with iPS Cells”
$392,316 – Two-year grant (February 1, 2019 – January 31, 2021)

Winston Kao, PhD, Principal Investigator
Hassane Amlal, PhD, Co-Principal Investigator
University of Cincinnati, Cincinnati, Ohio
“Cell Therapy and Gene Editing for Cystinosis”
$179,834 – One-year grant (February 1, 2019 – January 31, 2020)

Ming Li, PhD, Principal Investigator
Jacob Kitzman, PhD,Co-Principal Investigator
University of Michigan, Ann Arbor, Michigan
“Dissect the Protein Turnover Mechanism of Cystinosis Mutants”
$285,648 – Two-year grant (February 1, 2019 – January 31, 2021)

2018 Spring CRF Research Grant Awards

Justine Bachhawat, MD, PhD, Principal Investigator
Irma Machuca-Gayet, PhD, Co-Principal Investigator
Hospices Civils de Lyon et Universié de Lyon, Cedex, France
“Cysteamine Toxicity on Bone: The CYSTEA-BONE Project”
$126,000.00 – Two-year grant (November 1, 2018 – October 31, 2020)

Sergio Catz, PhD, Research Mentor
Raquel Carvalho Gontijo, PhD, Research Fellow
The Scripps Research Institute, La Jolla, California
“Novel Mechanistic and Translational Studies of Neutrophil-Mediated Inflammation in Cystinosis”
$150,000.00 – Two-year grant (September 1, 2018 – August 31, 2020)

Sergio Catz, PhD
The Scripps Research Institute, La Jolla, California
EnVision XCite plate reader equipment
$62,233.18 – Equipment Grant

Pierre Courtoy, MD, PhD, Principal Investigator
Christophe Pierreux, PhD, Co-Principal Investigator
De Duve Institute AISBL
“Evaluation of Ctns-/- Mice Protection by Oral Supplementation with Basic Amino-Acids: Focus on Kidneys”
$165,045.00 – Two-year grant (September 1, 2018 – August 31, 2020)

Francesco Emma, MD, Principal Investigator
Olivier Devuyst, MD, PhD Co-Principal Investigator
Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
University of Zurich, Zurich, Switzerland
“Development and Characterization of a Rat Model of Cystinosis”
$133,430.00 – One-year grant (September 1, 2018 – August 31, 2019

Liang Feng, PhD, Research Mentor
Xue Guo, PhD, Research Fellow
Stanford University, Stanford, California
“Molecular Mechanism of Cystinosis”
$150,000.00 – Two-year grant (September 1, 2018 – August 31, 2020)

Robert Mak, MD, PhD, Principal Investigator
University of California, San Diego
“Evaluation of Ctns-/- Mice Protection by Oral Supplementation with Basic Amino-Acids; Focus on Kidneys – Extension to Another Colony”
$133,083.00 – Two-year grant (September 1, 2018 – August 31, 2020)

Robert Mak, MD, PhD, Principal Investigator
University of California, San Diego
“Impact of Leptin Signaling on Skeletal Integrity and Growth in Infantile Neuropathic Cystinosis”
$206,466.00 – One-year grant (September 1, 2018 – August 31, 2019)

Richard Reimer, MD, Principal Investigator
Jacinda Sampson, MD, PhD, Co-Principal Investigator
Mary Leonard, MD, MSCE, Co-Principal Investigator
Paul Grimm, MD, Co-Principal Investigator
Trinh Tina Duong, MPT, PhD Candidate, Co-Principal Investigator
Feliks Kogan, PhD, Co-Principal Investigator
Stanford University, Stanford, California
“The Effect of Resistance Exercise on Muscle Dysfunction in Cystinosis”
$159,680.00 – One-year grant (September 1, 2018 – August 31, 2019)

Vincent Stanton, Jr, MD, Principal Investigator
Patrice Rioux, MD, PhD, Co-Principal Investigator
Thiogenesis Therapeutics, Inc., Belmont, Massachusetts and San Diego, California “Pharmacokinetic Evaluation and Optimization of Cysteamine Precursors”
$153,900.00 – One-year grant (March 1, 2018 – February 28, 2019)

2017 Fall CRF Research Grants Funded

Francesco Bellomo, PhD, Principal Investigator
Domenico De Rasmo, PhD, Co-Principal Investigator
Bambino Gesù Children’s Hospital – IRCCS, Rome, Italy
National Research Council (CNR), Bari, Italy
“Role of Mitochondria in Nephropathic Cystinosis: The Control of Cyclic AMP”
$150,150.00 – Eighteen-month grant (February 1, 2018 – July 31, 2019)

Stephanie Cherqui, PhD, Principal Investigator
Ranjan Dohil, MD, Co-Principal Investigator
University of California, San Diego, La Jolla, California
“Intra-Dermal Imaging of Subjects with Cystinosis Using Confocal Microscopy”
$134,061.00 – One-year grant (February 1, 2018 – January 31, 2019)

Bruno Gasnier, PhD, Research Mentor
Rosella Conti, PhD, Research Fellow
Paris Descartes University, Paris France
“Dynamics of Cystinosin”
$150,000.00 – Two-year fellowship (March 26, 2018 – March 25, 2020)

Robert Mak, MD, PhD, Principal Investigator
Harold Hoffman, MD, Co-Principal Investigator
University of California, San Diego, La Jolla, California
“Impact of NLRP3 Inflammasome Signaling on Skeletal Integrity and Growth in Infantile Nephropathic Cystinosis”
$379,678.00 – Two-year grant (February 1, 2018 – January 31, 2020)

Doris Trauner, MD, Principal Investigator
Atul Malhotra, MD, Co-Principal Investigator
University of California, San Diego, La Jolla, California
“Sleep Disorders and Memory in Adults with Cystinosis and Chronic Renal Disease”
$97,229.00 – One-year grant (February 1, 2018 – January 31, 2019)

2017 Spring CRF Research Grants Funded

Sergio Catz, PhD, Research Mentor
Jinzhong Zhang, PhD, Research Fellow
The Scripps Research Institute, La Jolla, California
“Improvement of Cellular Function Through Chaperone-Mediated Autophagy and Cellular Trafficking in Cystinosis”
$75,000.00 – One-year grant (September 15, 2017 – September 14, 2018)

Stephanie Cherqui, PhD, Principal Investigator
University of California, San Diego, La Jolla, California
“Mechanism of Bone Marrow Stem Cell-Mediated Therapy in the Mouse Model of Cystinosis”
$345,829.00 – Two-year grant (September 1, 2017 – August 31, 2019)

Florian Eichler, MD, Principal Investigator
Reza Seyedsadjadi, MD, Co-Principal Investigator
Massachusetts General Hospital, Boston, Massachusetts
“Clinical Trial Readiness for Distal Myopathy in Nephropathic Cystinosis (DMNC)”
$177,132.00 – One-year grant (September 1, 2017 – August 31, 2018)

Morgan Fedorchak, PhD, Principal Investigator
Kanwal Nichal, MD, FRCO, Co-Principal Investigator
University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania
“Development of a Topical, Controlled Release Cysteamine Eye Drop”
$163,819.00 – One-year grant (September 1, 2017 – August 31, 2018)

Paul Goodyer, MD, Principal Investigator
McGill University Health Centre, Montreal, Quebec, Canada
“ELX-02 Therapy for Cystinosis Caused by CTNS Nonsense Mutations”
$150,000.00 – Two-year grant (September 1, 2017 – August 31, 2019)

Sihoun Hahn, MD, PhD, Principal Investigator
Seattle Children’s Research Institute, Seattle, Washington
“Newborn Screening for Cystinosis”
$234,458.00 – Two-year grant (September 1, 2017 – August 31, 2019)

Alessandro Luciani, PhD, Principal Investigator
Olivier Devyust, MD, PhD, Co-Principal Investigator
University of Zurich, Switzerland
“Autophagic Lysosomal Reformation and Lipid Signaling in Nephropathic Cystinosis”
$240,000.00 – Three-year grant (October 1, 2017 – September 30, 2020)

Robert Mak, MD, PhD, Principal Investigator
University of California, San Diego, La Jolla, California
“Impact of Leptin Signaling on Skeletal Integrity and Growth in Infantile Nephropathic Cystinosis”
$167,177.00 – One-year grant (September 1, 2017 – August 31, 2018)

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