Research Updates

Novel Treatment Modalities for Corneal Cystinosis - Two Year Study - Funded August 2010
Jennifer Simpson, MD, Principal Investigator
James Jester, PhD, Co-Principal Investigator
University of California, Irvine
Updated 1/17/2012

Studying Podocyte Function in Nephropathic Cystinosis - Two Year Study - Funded January 2011
Elena Levtchenko, MD, PhD, Principal Investigator
University of Leuven, Belgium
Updated 1/4/2012

Cystinosis Gene Repair - Two Year Study - Funded October 2010
Patrick Harrison, PhD - Mentor
Ciaran Lee - Research Fellow
University College Cork, Ireland
Updated 12/21/2011

Energy Homeostasis and Muscle Wasting in Nephropathic Cystinosis - Two Year Study
Funded January 2010
Robert Mak, MD, PhD, Principal Investigator
University of California, San Diego
Updated 12/1/2011

Lessons from Cystinotic Mice - Two Year Study - Funded January 2010
Pierre J. Courtoy, MD, PhD, Principal Investigator
de Duve Institute, Brussels, Belgium
Updated 10/31/2011

Characterization of the Interaction of Cystinosin with Galectin-3 and Vacuolar H+-ATPase - Two Year Study
Funded October 2008
Corinne Antignac, MD, PhD
Necker Hospital, Paris, France
Updated 10/28/2011

Characterization and Rescue of CTNS-iPS Cells - One Year Study - Funded October 2010
Alan Davidson, PhD, Principal Investigator
University of Auckland, New Zealand
Updated 9/8/2011

Pathogenesis of Renal Disease in Nephropathic Cystinosis - Two Year Study - Funded January 2009
Elena Levtchenko, MD, PhD, Mentor
Martijn Wilmer, Research Fellow
University Hospital Leuven, Belgium
Updated 8/8/2011 - Final Report

Cystinosis Gene Repair - Two Year Study - Funded October 2010
Patrick Harrison, PhD, Mentor
Ciaran Lee, PhD, Research Fellow
University College Cork, Ireland
Updated 7/25/2011

Molecular Study of Lysosomal Transporters Involved in the Cystine-Depleting Effect of Cysteamine
Two Year Study - Funded September 2010
Bruno Gasnier, PhD, Principal Investigator
Institut de Biologie Physico-Chimique, Paris, France
Ellen Closs PhD, Co-Principal Investigator
Gutenberg University Medical Center, Mainz, Germany
Updated 7/15/2011

Molecular Anatomy and Physiology of Human Cystinosin - Three Year Study - Funded October 2008
Bruno Gasnier, PhD, Principal Investigator
Xiong Chen, PhD, Post-Doctoral Research Fellow
Institut de Biologie Physico-Chimique, Paris, France
Updated 7/14/2011

Studying Podocyte Function in Nephropathic Cystinosis - Two Year Study - Funded January 2011
Elena Levtchenko, MD, PhD
University Hospitals Leuven, Belgium
Updated 7/11/2011

Cysteamine Effects on Extracellular Matrix Accumulation in Chronic Kidney Disease - Three Year Study
Funded July 2008
Allison Eddy, MD
Daryl Okamura, MD
Seattle Children's Hospital Research Institute, Seattle, Washington
Updated 7/8/2011 - Final Report

Stem Cell and Gene therapy for Cystinosis - Two Year Study - Funded August 2009
Stephanie Cherqui, PhD, Principal Investigator
The Scripps Research Institute, La Jolla, California
Updated 5/10/2011

Proteomics Based Identification of Cysteinylated Proteins in Cystinotic Cells - Two Year Study
Funded January 2010
Bruce Barshop, MD, PhD, Mentor
Ilya Gertsman, PhD, Post-Doctoral Research Fellow
University of California, San Diego
Updated 5/10/2011

Mechanisms Underlying the Fanconi Syndrome in Cystinosis - One Year Study - Funded October 2010
Mary Taub, PhD
State University of New York at Buffalo
Updated 5/10/2011

Yeast Model for Cystinosis - Three Year Study - Funded March 2008
David Pearce, PhD, Mentor
Seasson P. Vitiello, Post-Doctoral Research Fellow
Sanford Children's Health Research Center, University of South Dakota
Updated 3/28/2011

Eye-Targeted Gene Therapy for Cystinosis in the Eye - Two Year Study - Funded September 2009
Kang Zhang, MD, Principal Investigator
University of California, San Diego
Updated 3/4/2011

Identification and Analysis of CIS-and Trans-Acting Elements that Activate the CTNS Gene - Two Year Study
Funded October 2008
Francesco Emma, MD
Ana Taranta, PhD
Bambino Gesu Children's Hospital, Rome, Italy
Final Report 1/1/2011

Pluripotent Stem Cells as a Source of Immunocompatible Renal Progenitor Cells for Therapy of Nephropathic Cystinosis - One Year Study - Funded May 2010
Holder Willenbring, MD, PhD, Principal Investigator
University of California, San Francisco
Updated 12/21/10

Role of Cystinosin in Vesicular Trafficking and Membrane Fusion - Three Year Fellowship
Funded October 2009
Corinne Antignac, MD, PhD, Mentor
Zuzanna Andrzejewska, Research Fellow
Inserm U983, Necker Hospital, Paris France
Updated 12/15/10

Scanning the Human Transcriptome in Cystinotic Cell Lines for Changes that are Associated with Genetic Variation in the CTNS Gene - Three Year Study - Funded January 2008
Eric K. Moses, PhD, Principal Investigator
John Blangero, PhD, and Katy Freed, PhD, Co-Principal Investigators
Southwest Foundation for Biomedical Research, San Antonio, Texas
Updated 12/13/10

Energy Homeostasis and Muscle Wasting in Nephropathis Cystinosis - Two Year Study
Funded January 2010
Robert Mak, MD, PhD, Principal Investigator
University of California, San Diego
Updated 12/1/10

Unravelling the Mechanisms of Cysteamine Toxicity in Patients with Cystinosis - One Year Study
Funded January 2009
Elena Levtchenko, MD, PhD, Principal Investigator
University Hospital Leuven, Leuven, Belgium
Updated 11/8/10

Eye-Targeted Gene Therapy for Cystinosis in the Eye - Two Year Study - Funded September 2009
Kang Zhang, MD, Principal Investigator
University of California, San Diego
Updated 10/22/10

Lessons from Cystinotic Mice - Two Year Study - Funded January 2010
Pierre J. Courtoy, MD, PhD, Principal Investigator
de Duve Institute, Brussels, Belgium
Upated 9/30/10

Developing New Models of Cystinosis Zebrafish - One Year Study - Funded September 2009
Alan Davidson, PhD, Principal Investigator
Joseph P. Vacanti, MD, Co-Principal Investigator
Massachusetts General Hospital, Boston, Massachusetts
Updated 9/16/10 Final Report

Pathogenesis of Renal Disease in Nephropathic Cystinosis - Two Year Fellowship
Funded January 2009
Elena Levtchenko, MD, PhD, Mentor
Martijn Wilmer, Research Fellow
University Hospital Leuven, Belgium
Updated 8/10/10

Identification and Analysis of Cis-and Trans-Acting Elements that Activate the CTNS Gene
Two Year Study - Funded October 2008
Francesco Emma, MD, Principal Investigator
Anna Taranta, PhD, Co-Principal Investigator
Bambino Gesu Children's Hospital and Research Institute, Rome, Italy
Updated 7/15/10

Cysteamine Effects on Extracellular Matrix Accumulation in Chronic Kidney Disease - Three Year Study
Funded July 2008
Allison Eddy, MD
Daryl Okamura, MD
Seattle Children's Hospital Research Institute, Seattle, Washington
Updated 6/30/10

Role of P-Glycoprotein Expression and Function in Cystinotic Proximal Tubular Cells - One Year Study
Funded January 2010
Elena Levtchenko, MD, PhD, Principal Investigator
Roos Masereeuw, PhD, and Lambertus van den Huevel, PhD, Co-Investigators
University Hospital Leuven, Leuven, Belgium
Updated 6/21/10

Characterization of Novel Lysosomal Genes for Immune Regulations and Spermatogenesis in Nephropathic Cystinosis - One Year Study - Funded April 2009
Minnie Sarwal, MD, MRCP, PhD, Principal Investigator
Renee Reijo Pera, PhD, Co-Investigator
Stanford University School of Medicine
Updated 4/5/10 Final Report

Psychosocial Functioning in Cystinosis: Stress and Coping with a Chronic Illness - One Year Study
Funded September 2009
Doris a. Trauner, MD, Principal Investigator
Amy M. Spilkin, PhD, Co-Principal Investigator
Angela Ballantyne, PhD, Co-Principal Investigator
University of California, San Diego
Updated 3/23/10

Neural Correlates of Executive Functioning in Cystinosis: a Structural MRI Study - One Year Study
Funded September 2009
Miriam Britt Sach, MD, PhD, Principal Investigator
University of California, San Diego
Updated 3/15/10

Molecular Mechanisms of Skin Hypopigmentation in Cystinosis - Two Year Study - Funded March 2007
Robert Ballotti, PhD, Principal Investigator
Christine Chiaverini, Co-Principal Investigator
Faculte'de Medecine, Nice, France
Updated 2/22/10 Final Report

Stem and Gene Therapy for Cystinosis - Two Year Study - Funded August 2009
Stephanie Cherqui, PhD, Principal Investigator
The Scripps Research Institute, La Jolla, California
Updated 1/12/10

Parthenogenetic Embryonic Stem Cells as a Source of Immunocompatible Renal Progenitor Cells for Therapy of Nephropathic Cystinosis - Two Year Study - Funded May 2008
Holger Willenbring, MD, Principal Investigator
John McLaughlin, PhD, Co-Principal Investigator
University of California, San Francisco
Updated 12/20/09

Identification and Analysis of CIS-and Trans-Acting Elements that Achivate the CTNS Gene
Two Year Study - Funded October 2008
Francesco Emma, MD
Anna Taranta, PhD
Bambino Gesu Children's Hospital and Research Institute, Rome, Italy
Updated 12/15/09

Scanning the Human Transcriptome in Cystinotic Cell Lines for Changes Associated with Genetic Variation in the CTNS Gene
Three Year Study - Funded January 2008
Eric K. Moses, PhD, Principal Investigator
John Blangero, PhD, and Katy Freed, PhD, Co-Principal Investigators
Southwest Foundation for Biomedical Research, San Antonio, Texas
Updated 11/25/09

Evaluation of Novel Corneal Imaging and Therapeutics in the CTNS Knockout Mouse Model
Two Year Study - Funded July 2008
Jennifer Simpson, MD, Principal Investigator
James Jester, PhD, Co-Principal Investigator
University of California, Irvine
Updated 11/19/09

Unraveling the Mechanisms of Cysteamine Toxicity in Patients with Cystinosis - One Year Study
Funded January 2009
Elena Levtchenko, MD, PhD, Principal Investigator
University Hospital Gasthuisberg, Leuven, Belgium
Updated 11/05/09

Yeast Model for Cystinosis - Three Year Study - Funded March 2008
David Pearce, PhD, Mentor
Seasson P. Vitiello, PhD, Post-Doctoral Research Fellow
University of Rochester Medical Center, Rochester, New York
Updated 11/04/09

Characterization of Novel Lysosomal Genes for Immune Regulation and Spermatogenesis in Nephropathic Cystinosis - One Year Study - Funded April 2009
Minnie Sarwal, MD, MRCP, PhD, Principal Investigator
Renee Reijo Pera, PhD, Co-Investigator
Stanford University, Palo Alto, California
Updated 10/06/09

Identification and Characterization of the Lysosomal Transporter Involved in Cysteamine-Mediated Cysteine Efflux
Two Year Study - Funded July 2007
Bruno Gasnier, PhD (Paris) Prinicpal Investigator
Ellen Closs, PhD, (Germany) Co-Investigator
Institut de Biologie Physico-Chimique, Paris, France
Updated 09/05/09

Treatment of Cystinosis Nephropathy Using Ureteral Injection of Aden-Oassociated Virus Expressing CTNS - One Year Study - Funded August 2008
Stephanie Cherqui, PhD
Daniel Salomon, MD
The Scripps Institute, La Jolla, California
Updated 09/04/09

Gene Transfer Studies for Cystinosis - One Year Study - Funded January 2009
Vasiliki Kalatzis, PhD, Principal Investigator
Eric J. Kremer, PhD, Co-Investigator
Institut Génétique Moléculaire Montpellier, Montpellier, France
Updated 08/01/09

Gene Transfer Studies for Cystinosis - One Year Continuation Fellowship - Funded January 2009
Vasiliki Kalatzis, PhD, Mentor
Claire Hippert, Predoctoral Research Fellow
Institut Génétique Moléculaire Montpellier, Montpellier, France
Updated 08/01/09

Cysteamine Effects on Extracellular Matrix Accumulation in Chronic Kidney Disease
Three Year Study - Funded July 2008
Allison Eddy, MD
Daryl Okamura, MD
Seattle Children's Hospital Research Institute, Seattle, Washington
Updated 07/13/09

Gene Transfer Studies for Cystinosis - Two Year Study - Funded January 2007
Vasiliki Kalatzis, PhD, Mentor
Claire Hippert, Predoctoral Research Fellow
Institut Génétique Moléculaire Montpellier, Montpellier, France
Updated 06/26/009 Final Report

Transcriptional and Post-Transcriptional Regulation of the CTNS Gene
Two Year Study Funded March 2007
Francesco Emma, MD, Principal Investigator
Elena Levtchenko, MD and Anna Taranta, PhD, Co-Investigators
Bambino Gesu Children’s Hospital and Research Institute, Rome, Italy
Updated 06/08/09

Molecular and Pathogenesis Study of Cystinosis - Two Year Study - Funded June 2007
Taosheng Huang, MD, PhD, Mentor
Sha Tang, PhD, Research Fellow
University of California, Irvine
Updated 06/04/09 Final Report

Targeted Cell Fusion for the Correction of Tubulopathy Due to Cystinosis
Two Year Study - Funded January 2007
Holger Willenbring, MD, Mentor
Silvia Espejel Carbajal, PhD, Post-Doctoral Research Fellow
University of California, San Francisco
Updated 06/01/09 Final Report

Identification and Analysis of CIS-and Trans-acting Elements that Activate the CTNS Gene
Two Year Study - Funded October 2008
Francesco Emma, MD
Anna Taranta, PhD
Bambino Gesu Children's Hospital and Research Institute, Rome, Italy
Updated 05/02/09

Characterization of the Interaction of Cystinosin with Galectin-3 and Vacuolar H+ATPase
Corinne Antignac, MD, PhD
Two Year Study - Funded October 2008
Hospital Necker, Paris France
Updated 04/14/09

Evaluation of Novel Corneal Imaging and Therapeutics in the CTNS Knockout Mouse Model
Jennifer Simpson, MD
James Jester, PhD
Two Year Study - Funded July 2008
University of California, Irvine
Updated 03/23/09

Mechanisms Underlying the Fanconi Syndrome in Cystinosis - One Year Study - Funded July 2008
Mary Taub, PhD, Principal Investigator
University at Buffalo, The State University of New York
Updated 01/25/09

Parthenogenetic Embryonic Stem Cells as a Source of Immunocompatible Renal Progenitor Cells for Therapy of Nephropathic Cystinosis - Two Year Study - Funded May 2008
Holger Willenbring, MD, Principal Investigator
John McLaughlin, PhD, Co-Principal Investigator
University of California, San Francisco
Updated 01/23/09

Yeast Model for Cystinosis - Three Year Study - Funded March 2008
David Pearce, PhD, Mentor
Seasson Phillips, Post-Doctoral Fellowship
University of Rochester Medical Center, Rochester, New York
Updated 01/10/09

Complex Genetic Approaches to Monogenic Disease: Genomic and Transcriptomic Dissection of Normal Expression of CTNS - Two Year Study - Funded January 2007
Katy Freed, PhD Post-Doctoral Fellowship
Southwest Foundation for Biomedical Research, San Antonio, Texas
Updated 01/07/09

Characterization of Cystinosin Intracellular Trafficking - One Year Study - Funded July 2007
Corinne Antignac, MD, PhD
Hospital Necker, Paris France
Updated 01/05/09

Molecular and Pathogenesis Study of Cystinosis - Two Year Study - Funded June 2007
Taosheng Huang, MD, PhD, Mentor
Sha Tang, PhD, Research Fellow
University of California, Irvine
Updated 12/31/08

Cysteamine Effects On Extracellular Matrix Accumulation in Chronic Kidney Disease
Three Year Study - Funded July 2008
Allison Eddy, MD
Daryl Okamura, MD
Seattle Children's Hospital Research Institute, Seattle, Washington
Updated 12/31/08

Transcriptional and Post-Transcriptional Regulation of the CRNS Gene
Two Year Study Funded March 2007
Francesco Emma, MD, Principal Investigator
Elena Levtchenko, MD and Anna Taranta, PhD, Co-Investigators
Bambino Gesu Children’s Hospital and Research Institute, Rome, Italy
Updated 10/1/08

Neural Functioning in Auditory and Visual Systems in Cystinosis: Linking Brain to Behavior
Two Year Study Funded January 2007
Rita Ceponiene, MD, PhD
University of California, San Diego
Updated 09/12/08

Scanning the Human Transcriptome in Cystinotic Cell Lines for Changes That Are Associatd With Genetic Variation in The CTNS Gene - Three Year Study - Funded January 2008
Eric K. Moses, PhD, Principal Investigator
John Blangero, PhD, and Katy Freed, PhD, Co-Principal Investigators
Southwest Foundation for Biomedical Research, San Antonio, Texas
Updated 07/30/08

Gene Transfer Studies for Cystinosis - Two Year Study - Funded January 2007
Vasiliki Kalatzis, PhD, Mentor
Claire Hippert, Predoctoral Research Fellow
Institut Génétique Moléculaire Montpellier, Montpellier, France
Updated 07/04/2008

Molecular Mechanisms of Hypopigmentation in Cystinosis - Two Year Study - Funded March 2007
Robert Ballotti, PhD, Principal Investigator
Christine Chiaverni, Co-Principal Investigator
Faculte'de Medecine, Nice, France
Updated 06/30/08

Treatment of Cystinosis Nephropathy Using Genetically Modified Adult Stem Cells in Murine Cystinosis Model - Three Year Study - Funded May 2006
Stephanie Cherqui, PhD
Daniel Salomon, MD
The Scripps Institute, La Jolla, California
Updated 06/10/2008

Targeted Cell Fusion for the Correction of Tubulopathy due to Cystinosis - Two Year Study
Funded January 2007
Silvia Espejel Carbajal, PhD - Post-Doctoral Fellow
Holger Willenbring, MD - Mentor
University of California, San Francisco
Updated 05/31/2008

Complex Genetic Approaches to Monogenic Disease: Genomic and Transcriptomic Dissection of Normal Expression of CTNS - Two Year Study - Funded January 2007
Katy Freed, PhD Post-Doctoral Fellowship
Southwest Foundation for Biomedical Research
San Antonio, Texas
Updated 05/19/2008

Academic Functioning in Cystinosis: A Comprehensive Study of the Process of Achievement
Two-Year Study - Funded May 2006
Angela Ballantyne, Ph.D, Principal Investigator
University of California, San Diego
Updated 03/05/2008

Neural Functioning in Auditory and Visual Systems in Cysintosis: Linking Brain to Behavior
Two Year Study - Funded January 2007
Rita Ceponiene, MD, PhD
University of California, San Diego
Updated 03/05/2008

Identification and Characterization of the Lysosomal Transporter Involved in Cysteamine-Mediated Cysteine Efflux - Two-Year Study - Funded July 2007
Bruno Gasnier, PhD ( Paris) Prinicpal Investigator
Ellen Closs, PhD, (Germany) Co-Investigator
Institut de Biologie Physico-Chimique, Paris, France
Updated 02/14/2008

Mitchondrial Dysfunction in Cystinosis Myopathy - Two-Year Study - Final Report
Doris A. Trauner, MD, Principal Investigator
University of California, San Diego
Updated 02/11/2008

Gene Transfer Studies for Cystinosis - Two-Year Study - Funded January 2007
Vasiliki Kalatzis, PhD, Mentor
Claire Hippert, PhD, Pre-Doctoral Research Fellow
Institut Génétique Moléculaire, Montpellier, France
Updated 01/24/2008

Targeted Cell Fusion for the Correction of Tubulopahy due to Cystinosis - Two-Year Fellowship
Silvia Espejel Carbajal, PhD - Research Fellow
Holger Willenbring, MD - Mentor
University of California, San Francisco
Updated 12/31/2007

Molecular and Pathogenesis Study of Cystinosis - Two Year Study - Funded January 2007
Taosheng Huang, MD, PhD, Mentor
Sha Tang, PhD, Research Fellow
University of California, Irvine
Updated 12/31/07

Academic Functioning in Cystinosis: A Comprehensive Study of the Process of Achievement
Two Year Study - Funded May 2006
Angela Ballantyne, PhD
University of California, Irvine
Updated 09/11/2007

Transcriptional and Post-Transcriptional Regulation of the CTNS Gene - Two Year Study
Funded January 2007
Francesco Emma, MD
Elena Levtchenko, MD and Anna Taranta, PhD, Co-Investigators
Bambino Gesu Children’s Hospital and Research Institute, Rome, Italy
Updated 09/02/2007

Complex Genetic Approaches to Monogenic Disease: Genomic and Transcriptomic Dissection of Normal Expression of CTNS, the Gene Involved in Nephropathic Cystinosis - Two-Year Study
Funded December 2006
Katy Freed, PhD, Research Fellow
Eric K. Moses, PhD, Mentor
Southwest Foundation for Biomedical Research, San Antonio, Texas
Updated 10/30/2007

Molecular Mechanisms of Hypopigmentation in Cystinosis - Two Year Study - Funded March 2007
Robert Ballotti, PhD
Christine Chiaverini, MD, PhD
Faculte’ de Medecine, Nice, France
Updated 11/20/2007

Lysosomal Cystine Enhanced Apoptosis in Cultured Human Mesenchymal Stem Cells - 18 Month Study - Funded December 2006
Jess G. Thoene, MD
University of Michigan
Updated 12/04/2007

Treatment of Cystinosis Nephropathy Using Genetically Modified Adult Stem Cells in the Murine Cystinosis Model - Three Year Study - Funded May 2006
Daniel Salomon, MD and Stephanie Cherqui, PhD
The Scripps Research Institute
La Jolla, California
Updated 12/26/2007

Supplemental Support to Establish a Cystinosis Research Lab at the University of Michigan - One-Year - Funded November 2006
Jess Thoene, MD
University of Michigan
Updated 01/02/2008

Molecular and Pathogenesis Study of Cystinosis - Two-Year Study - Funded July 2007
Taosheng Huang, MD, Mentor
Sha Tan, PhD, Research Fellow
University of California, Irvine
Updated 01/04/2008

Absorption of Cysteamine Study - Two Year Study Funded July 2003
The purpose of this study was to determine where cysteamine was absorbed within the intestinal tract.
Ranjan Dohil, MD
Associate clinical Professor
Division of Pediatric Gastroenterology and Hepatology
University of California at San Diego
Updated 12/15/2005

Myopathy in Cystinosis - Two Year Study - Funded February 2004
The purpose of the study was to specifically determine whether there is evidence of mitochondrial dysfunction in Cystinosis myopathy (muscle wasting).
Doris Trauner, MD.
Professor, Departments of Neurosciences and Pediatrics
Chief, Pediatric Neurology
University of California at San Diego School of Medicine
Updated 08/11/2006

Cystamine and Cystinosis - Two Year Study - Funded March 2004
The purpose of his study is to discover better drugs for the treatment of Cystinosis.
Thomas Jeitner, PhD
Research Assistant Professor
Department of Biochemistry
Medical College of Wisconsin
Updated 02/08/2005

Lysosomal Cystine and Apoptosis - One Year Study - Funded April 2004
The purpose of this study was to learn how lysosomal cystine causes enhanced apoptosis (early programmed cell death).
Jess Thoene, MD
Director, Hayward Genetics Center
Karen Gore Professor of Pediatrics
Tulane University, School of Medicine
Updated 02/08/2005

Pathogenesis of Interstitial Renal Damage Leading to Renal Failure in Cystinosis - One Year Study Funded May 2006
Elena Levtchenko, MD, PhD
University Medical Center St. Radboud Nijmegen
The Neitherlands
Updated 04/07/2007

Cognitive Domain of Executive Functioning - Two Year Study - Funded July 2005
This study will provide the first set of comprehensive neuropsychological data on executive functioning in individuals with Cystinosis, from childhood through adulthood.
Amy Spilkin, Ph.D.
Assistant Project Neuroscientist
Pediatric Neurology Research Group
University of California, San Diego
Updated 07/31/2006

Enteric-Coated Cystagon Study – Interim Report - One Year Study - Funded February 2006
Ranjan Dohil, M.D.
Associate Clinical Professor
Division of Pediatric Gastroenterology and Hepatology
University of California at San Diego
Updated 08/15/2006

Treatment of Cystinosis Nephropathy Using Genetically Modified Adult Stem Cells in the Murine Cystinosis Model - Three Year Study - Funded May 2006
Daniel Salomon, MD and Stephanie Cherqui, PhD
The Scripps Research Institute
Updated 06/14/2007

Academic Functioning in Cystinosis: A Comprehensive Study of the Process of Achievement
Two Year Study - Funded May 2006
Angela O. Ballantyne, PhD Principal Investigator
Amy M. Spilkin, PhD, Co-Principal Investigator
Doris A. Trauner, MD Co-Investigator
University of California, San Diego
Updated 03/14/2007

Characterization of Cystinosin Intraellular Trafficking - One Year Study - Funded May 2006
Corinne Antignac, MD, PhD
Department of Genetics
Hospital Necker
Paris, France
Updated 03/14/2007

Lysosomal Cystine Enhanced Apoptosis In Cultured Human Mesenchymal Stem Cells - Eighteen Month Study - Funded December 2006
Jess G. Thoene, MD
University of Michigan
Updated 05/07/2007

Gene Transfer Studies for Cystinosis - Two Year Study - Funded January 2007
Vasiliki Kalatzis, PhD Mentor
Claire Hippert, Pre-Doctural Research Fellow
Institute Génétique Moléculaire Montpellier
Montpellier, France
Updated 07/16/2007