Justine Bacchetta, MD, PhD, Principal Investigator/Mentor
Claire Dumortier, PhD, Fellow 
Hospices Civils de Lyon, Bron, France 
“The 2024 CYSTEA-BONE Project”
$123,000 – Two-year fellowship

Bruce Barshop, MD, PhD, Principal Investigator
Jon Gangoiti, MS, Co-Principal Investigator
University of California, San Diego, La Jolla, California
“Trial of a Hydrolase-Activated Thiol Prodrug in Cystinosis Fibroblasts”
$67,615 – One-year study

Sergio Catz, PhD, Principal Investigator/Mentor
Danni Chen, PhD, Fellow
Scripps Research Institute, La Jolla, California 
“Novel Mechanistic and Translational Studies of Inflammation in Cystinosis”
$150,000 – Two-year study

Sergio Catz, PhD, Principal Investigator/Mentor
Aparna Shukla, PhD, Fellow
Scripps Research Institute, La Jolla, California
“Translational Approaches to Repair Chaperone Mediated Autophagy in Cystinosis”
$150,000 – Two-year study

Stéphanie Cherqui, PhD, Principal Investigator/Mentor
Veenita Khare, PhD, Fellow
University of California, San Diego, La Jolla, California 
“To Characterize Two New Ctns -/- Mice Models”
$150,000 – Two-year study

Liang Feng, PhD, Principal Investigator
Stanford University, Stanford, California 
“Probing Protein Mutagenesis and Modulation in Cystinosis” 
$245,000 – Two-year study

Norbert Perrimon, PhD, Principal Investigator/Mentor
Ting Miao, PhD, Fellow
Harvard Medical School, Boston, Massachusetts
“Profiling Dysregulation of Kidney Coenzyme A (CoA) Biosynthesis in Cystinosis”
$75,000 – One-year study

Reza Seyedsadjadi, MD, Principal Investigator
Massachusetts General Hospital, Boston, Massachusetts 
“Further Characterization of Dysphagia in Nephropathic Cystinosis”
$442,768 – Two-year study 

2023 Fall CRF Research Grant Awards Funded

Lauren Albrecht, BS, PhD, and Renata Pereira, PhD,
University of California, Irvine, and University of California, Los Angeles
“Investigating novel regulators of lysosomes and osteocyte signaling in cystinosis”
$357,047 – Two-year study

Yael Borovitz, MD, Ittai Fattal, MD, Shelly Levi, MD, and  Daniel Landau, MD  
Schneider Children’s Medical Center, Israel 
“Efficacy of dipyridamole for hypercalciuria in hypophosphatemic tubulopathies: a prospective interventional study” 
$27,500 – Two-year study

Stéphanie Cherqui, PhD 
University of California, San Diego
“Advancing the understanding of the renal Fanconi syndrome in cystinosis”
$330,577 – Two-year study

Benjamin Freedman, PhD 
University of Washington
“Developing a therapeutic strategy for nephropathic cystinosis with iPS cells”
$437,778 – Two-year study

Bruno Gasnier, PhD 
CNRS/University of Paris, France
“A critical role for cystinosin during mammalian embryonic development”
$404,000 – Two-year study

Maren Leifheit-Nestler, PhD, Malgorzata Szaroszyk, PhD, and Dieter Haffner, MD 
Hannover Medical School, Germany
“Cystinosis-associated myopathy: Impact of musclin gene therapy and exercise”
$277,288 – Two-year study

Ming Li, PhD, and Jacob Kitzman, PhD 
University of Michigan
“Investigating the degradation mechanism of cystinosis mutant”
$165,834 – One-year study

2023 Spring CRF Research Grant Awards Funded

Sergio Catz, PhD (Mentor) and Juan Yu, PhD (Fellow) 
Scripps Research, La Jolla, California 
“Studies of global inflammation in patients with cystinosis”
$150,000 – Two-year fellowship

Ester De Leo, PhD and Francesco Emma, MD
Bambino Gesu Children’s Hospital, IRCCS, Rome, Italy
“Efficacy and safety of genistein in Ctns-/- rats”
$209,550 – Two-year study

Olivier Devuyst, MD, PhD and Alessandro Luciani, PhD 
University of Zurich, Switzerland 
“SGLT2 inhibitors reveal new therapeutic opportunities for cystinosis” 
$320,000 – Two-year study

Olivier Devuyst, MD, PhD and Francesco Emma, MD 
Bambino Gesu Children’s Hospital, Rome, Italy
Maintenance of CTNS Rat Model 
$40,000 – Two-year study

Paul Goodyer, MD, and Elena  Torban, PhD 
Research Institute of the McGill University Health Centre, Montreal, QC, Canada 
“mRNA therapy for cystinosis” 
$240,000 – Two-year study

2022 Fall CRF Research Grant Awards Funded

Justine Bacchetta, MD, PhD, and Irma
Machuca-Gayet, PhD 
Hospital Femme Mère Infant, Bron Cedex, France 
“The 2022 CYSTEA-BONE Project”
$246,000 – Two-year study

Morgan DiLeo, PhD, (Mentor) and Xin Fan, PhD, (Fellow)
University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania
“Liposome cysteamine carriers for eye drop formulation with long-term stability and
smart release ability”
$75,000 – One-year fellowship

2022 Spring CRF Research Grant Awards Funded

Sergio Catz, PhD, (Mentor) and Danni Chen, PhD, (Fellow) 
The Scripps Research Institute, La Jolla, California 
“Novel mechanistic and translational studies of inflammation in cystinosis” 
$150,000 – Two-year fellowship

 Sergio Catz, PhD, (Mentor) and Aparna Shukla, PhD, (Fellow) 
The Scripps Research Institute, La Jolla, California 
“Translational approaches to repair chaperone mediated autophagy in cystinosis” 
$150,000 – Two-year fellowship

Olivier Devuyst, MD, PhD, (Mentor) and Marine Berquez, PhD, (Fellow) 
University of Zürich, Switzerland 
“Role of nutrient sensing and mTORC1 signaling in cystinosis” 
$150,000 – Two-year fellowship

Francesco Emma, MD, and Anna Taranta, PhD  
Bambino Gesù Children’s Hospital, Rome, Italy 
“Impact of diet composition on renal function and bone disease of Ctns-/- mice” 
$287,320 – Two-year study

 Liang Feng, PhD 
Stanford University, Stanford, California 
“Investigating the molecular basis of protein dynamics in cystinosis” 
$245,000 – Two-year study

Dieter Haffner, MD, (Mentor) and Malgorzata Szaroszyk, PhD, (Fellow) 
Hannover Medical School, Germany 
“Musclin as a new marker for muscle health in cystinosis” 
$74,915 – One-year fellowship

 Jennifer Hollywood, PhD, and Alan Davidson, PhD 
University of Auckland, New Zealand
Collaborator: Herbie Newell, PhD 
University of Sunderland, United Kingdom 
“Evaluation of a novel drug combination treatment of CF10 and Everolimus for nephropathic cystinosis in a new cystinotic rat model” 
$229,892.04 – Two-year study

2021 Fall CRF Research Grants Funded

Stéphanie Cherqui, PhD, Principal Investigator
University of California, San Diego, La Jolla, California
 “Advancing the understanding of renal Fanconi syndrome in cystinosis”
$329,908 – Two-year study

Andrea Del Fattore, PhD, Principal Investigator
Giulia Battafarano, PhD, Co-Principal Investigator
Bambino Gesù Children’s Hospital, Rome, Italy 
“Analysis of the impact of Pepstatin A/Cysteamine combined treatment on bone remodeling activity of cystinotic mice” 
$225,500 – Two-year study

Benjamin Freedman, PhD, Principal Investigator
University of Washington, Seattle, Washington
“Developing a therapeutic strategy for nephropathic cystinosis with iPS cells”
$283,490 – Two-year study 

Bruno Gasnier, PhD, Principal Investigator
CNRS / Université de Paris, Paris, France
 “A critical role for cystinosin during embryo development”
$265,000 – Two-year study

Pascal Laforêt, MD, PhD, Principal Investigator
Hélène Prigent, MD, PhD, Co-Principal Investigator
Raymond Poincaré University Hospital, Garches, France
Aude Servais, MD, PhD, Co-Principal Investigator
Necker Hospital, Paris Descartes University, Paris, France
“Improving characterization of neuromuscular involvement in adults with cystinosis”
$139,323 – Three-year study

Robert Mak, MD, PhD, Principal Investigator
University of California, San Diego
“Dietary glycine supplementation attenuates infantile nephropathic cystinosis-associated muscle wasting and adipose tissue browning” 
$296,759 – Two-year study

2021 Spring CRF Research Grants Funded

Francesco Bellomo, PhD, Principal Investigator
Francesco Emma, MD, Co-Principal Investigator 
Bambino Gesù Children’s Hospital, Rome, Italy
“Vanin-1 as Therapeutic Target in Nephropathic Cystinosis”
$181,874.00 – Two-year study

Bruno Vogt, MD, Principal Investigator 
Daniel Pouly, PhD, Co-Principal Investigator 
University Hospital of Bern, Bern, Switzerland
“Early Events of Cystinosis Pathogenesis: Pro-Apoptotic Signals and mRNA Translation” 
$196,090.00 – One-year study

Equipment Grant 
Sergio Catz, PhD 
The Scripps Research Institute, La Jolla, California 
Celldiscoverer CD7 Zeiss Microscope
$234,279.00 – Purchase Total

2020 Fall CRF Research Grants Funded

Justine Bacchetta, MD, PhD, Principal Investigator
Irma Machuca-Gayet, PhD, Co-Principal investigator
Hospices Civils de Lyon and INSERM, Lyon, France 
“Pathophysiology of Bone Disease in Nephropathic Cystinosis” (CYSTABONE)
$108,000.00 – One-year study

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”
 $75,000.00 – One-year study

Giusi Prencipe, PhD, Research Mentor
Marianna Nicoletta Rossi, PhD, Research Fellow
Bambino Gesù Children’s Hospital, Rome, Italy
“Role of DNA methylation in cystinosis”
$75,000.00 – One-year study

Reza Seyedsadjadi, MD, Principal Investigator
Florian Eichler, MD, Co-Principal Investigator
Massachusetts General Hospital, Boston Massachusetts
“Optimizing Dysphagia Assessments Using MBSImP in Adults with Nephropathic Cystinosis”
 $67,019.00 – One-year study

Grant Extensions

Corinne Antignac, MD, PhD, Principal Investigator 
IMAGINE Institute, Paris, France 
“Intra-Dermal Imaging of Subjects with Cystinosis Using Confocal Microscopy” 
$31,306.00 – One-year extension

 Stéphanie Cherqui, PhD, Principal Investigator 
University of California, San Diego, La Jolla, California 
“Intra-Dermal Imaging of Subjects with Cystinosis Using Confocal Microscopy” 
$102,755.00 – One-year extension

Pierre Courtoy, MD, PhD, Principal Investigator
de Duve Institute, Brussels, Belgium
Laura Rita Rega, PhD, Co-Principal Investigator 
Bambino Gesù Children’s Hospital, Rome, Italy 
“Secondary Treatment of Ctns-/- Mice with Dibasic Amino-Acids:  Safety, Efficacy and Mechanism(s)”
$46,174.00 – One-year extension

Laura Rita Rega, PhD, Co-Principal Investigator 
Bambino Gesù Children’s Hospital, Rome, Italy 
“Secondary Treatment of Ctns-/- Mice with Dibasic Amino-Acids:  Safety, Efficacy and Mechanism(s)”
$16,170.00 – One-year extension

2020 Spring CRF Research Grants Funded

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 study

Sergio Catz, PhD, Research Mentor 
Farhana Rahman, PhD, Research Fellow 
The Scripps Research Institute, La Jolla, California 
“Molecular Trafficking Regulators of Dynamic Organelles in Cystinosis” 
$150,000.00 – Two-year study

Pierre Courtoy, MD, PhD, Principal Investigator 
Christophe Pierreux, PhD, Co-Principal Investigator 
de Duve Institute, Louvain University Medical School, Brussels, Belgium 
Laura Rega, PhD,  Principal Investigator 
Ospedale Pediatrico Bambino Gesù, Rome, Italy
“Secondary Treatment of Ctns -/- Rats by Oral Dibasic Amino-Acids, with Focus on Fanconi Syndrome” 
$42,801.00 – Six-month study

Shawn Davidson, PhD, Principal Investigator
Princeton University, Princeton, New Jersey
“Metabolomics of Hematopoietic Stem Cell Therapy in Ctns -/- Mice”
$160,244.00 – One-year study

Olivier Devuyst, MD, PhD, Principal Investigator 
Alessandro Luciani, PhD, Co-Principal Investigator 
University of Zürich, Zürich, Switzerland 
“New Model Systems for Integrated Drug Discovery in Cystinosis” 
$290,000. 00 – Two-year study

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”
$410,810.00 – Two-year study

Liang Feng, PhD, Research Mentor
Xue Guo, PhD, Research Fellow 
Stanford University, Stanford, California 
“Molecular Mechanisms of Cystinosis” 
$150,000.00 – Two-year study

Jennifer Hollywood, PhD, Principal Investigator 
Alan Davidson, PhD, Co-Principal Investigator 
University of Auckland, New Zealand 
“A Pre-Clinical Drug Study Using Cysteamine/Everolimus Combination Therapy to Treat Cystinosis Knock-Out Rats” 
$200,530.00 – Two-year study

Sophie Molholm, PhD, Principal Investigator 
John Foxe, PhD, Co-Principal Investigator 
Albert Einstein College of Medicine, Bronx, New York 
“The Development of Neuromarkers of Cognitive Dysfunction in Cystinosis”
$333,164.00 – Two-year study

Michael Sekar, PhD, Principal Investigator 
Laura Rega, PhD, Co-Principal Investigator 
Amma Therapeutics, Inc., Hayward, California 
“Development of a Once-Daily Subcutaneous Injection of Cysteamine Bitartrate” 
$304,064.00 – One-year study

Grant Extensions
Corinne Antignac, MD, PhD, Principal Investigator 
IMAGINE Institute, Paris, France 
“Intra-Dermal Imaging of Subjects with Cystinosis Using Confocal Microscopy” 
$31,306.00 – One-year extension

Stéphanie Cherqui, PhD, Principal Investigator 
University of California, San Diego, La Jolla, California 
“Intra-Dermal Imaging of Subjects with Cystinosis Using Confocal Microscopy” 
$102,755.00 – One-year extension

Olivier Devuyst, MD, PhD, Principal Investigator 
University of Zürich, Zürich, Switzerland 
“Development and Characterization of a Rat Model of Cystinosis” 
$115,500.00 – One-year extension

Francesco Emma, MD, Principal Investigator 
Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy 
“Development and Characterization of a Rat Model of Cystinosis” 
$105,996.00 – One-year extension

Equipment Grant 
Stéphanie Cherqui, PhD 
University of California, San Diego, La Jolla, California 
HRT3-RCM 
$82,320.00 – Purchase Total

2019 Fall CRF Research Grants Funded

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

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

2019 Spring CRF Research Grants Funded

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

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

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
$765,192.00 – 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 “
$336,400.00 – Two-year grant (February 1, 2019 – January 31, 2021)

Olivier Devuyst, MD, PhD, Research Mentor
Zhiyog Chen, PhD, Research Fellow
University of Zürich, Zürich, Switzerland
“Pathogenesis of Cystinosis: Studies Using Transgenic Zebrafish Models”
$225,000.00 – 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”
$150,145.00 – 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”
$392,316.00 – 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”
$179,834.00 – 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”
$285,648.00 – 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
$62,233.18.00 – 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)