Research Updates

Research Updated 2013

• Molecular Mechanisms to Repair the Vesicular Transport System in Cystinosis
  One-Year Study - Funded September 2012
  Sergio Daniel Catz, PhD, Principal Investigator
  The Scripps Research Institute, La Jolla, California
  Updated 5/10/2013
• Small Molecule Regulators of Vesicular Trafficking to Enhance Lysosomal Exocytosis in Cystinosis
  Two-Year Study - Funded October 2011
  Sergio Daniel Catz, PhD, Mentor
  Gennaro Napolitano, PhD, Research Fellow
  The Scripps Research Institute, La Jolla, California 
  Updated 4-5-2013 
• Differentiation of Cystinotic Pluripotent Stem Cells into Kidney Tissue
  One-Year Study - Funded September 2012
  Alan Davidson, PhD, Principal Investigator
  University of Auckland, New Zealand
  Updated 4-5-2013 
• Patient-Reported Outcome and Health-Related Quality of Life in Adults with Cystinosis: A Study Utilizing the NIH "PROMIS"
  One-Year Study - Funded February 2012
  Angela Ballantyne, PhD, Principal Investigator
  Doris Trauner, MD, Co-Principal Investigator
  University of California, San Diego
  Updated 3/11/13 
• Defective Transport and Epithelial Dedifferentiation: Genesis of Key Events in Nephropathic Cystinosis 
  Two-Year Study - Funded September 2012
  Olivier Devuyst, MD, PhD, Principal Investigator
  Sara Terryn, PhD, Co-Principal Investigator
  University of Zurich, Germany
  Updated 2/26/13 
• Integrated Cellular and Tissular Physiopathology of Cystinosis in Cystinosin KO Mice and Correction Mechanisms Upon Haematopoietic Stem Cell Grafting 
  Two-Year Study - Funded September 2012
  Pierre J. Courtoy, MD, PhD, Principal Investigator
  Héloïse Chevronnay, PhD, Co-Principal Investigator
  De Duve Institute, Belgium
  Updated 2/26/13
• Molecular Study of Lysosomal Transporters Involved in the Cystine-Depleting Effect of Cysteamine 
  Two-Year Study - Funded September 2010 
  Bruno Gasnier, PhD, Principal Investigator
  Université Paris Descartes, Paris, France
  Ellen Closs PhD, Co-Principal Investigator
  Gutenberg University Medical Center, Mainz, Germany
  Updated 2/22/2013
• 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 2/18/2013 - Final Report
• Elucidating the Role of Cystinosin-Deficient Macrophages in Nephropathic Cystinosis
  Two-Year Study - Funded August 2011
  Daryl Okamura, MD, Principal Investigator
  Allison Eddy, MD, Co-Principal Investigator
  Seattle Children's Hospital, Washington
  Upated 2/4/2013
• 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 1/31/2013
• Drug Library Screening to Improve the Outcome of Nephropathic Cystinosis
  Two-Year Study - Funded January 2012
  Francesco Emma, MD, Principal Investigator, Bambino Gesú Childrens Hospital, Rome Italy
  Maria Antonietta De Matteis, MD, Co-Principal Investigator, Telethon Institute of Genetics, Naples, Italy
  Updated 1/28/2013

Research Updated 2012

• 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 12/21/2012 - Final Report
• Role of Nitric Oxide in the Kidney Proximal Tubular Dysfunction Associated with the
  Fanconi Syndrome in Cystinosis
  One-Year Study - Funded January 2012
  Tara McMorrow, MD, Principal Investigator
  Philip Newsholme, PhD, Co-Principal Investigator
  University College Dublin, Ireland
  Updated 11/17/2012
• The Role of Altered Calcium and mTOR Signaling in the Pathogenesis of Cystinosis
  Two-Year Study - Funded January 2012
  Elena Levtchenko, MD, PhD, Principal Investigator
  Antonella De Matteis, MD, Co-Principal Investigator
  University of Leuven, Belgium
  Updated 8/14/2012
• Elucidating the Role of Cystinosin-Deficient Macrophages in Nephropathic Cystinosis
  Two-Year Study - Funded August 2011
  Daryl Okamura, MD, Principal Investigator
  Allison Eddy, MD, Co-Principal Investigator
  Seattle Children's Hospital, Washington
  Updated 8/14/2012
• Pluripotent Stem Cells as a Source of Immunocompatible Renal Progenitor Cells for Therapy of Nephropathic Cystinosis
  One-Year Study - Funded May 2010
  Holger Willenbring, MD, PhD, Principal Investigator
  University of California, San Francisco
  Updated 8/14/2012 - Final Report
• Patient-Reported Outcome and Health-Related Quality of Life in Adults with Cystinosis: A Study Utilizing the NIH "PROMIS"
  One-Year Study - Funded February 2012
  Angela Ballantyne, PhD, Principal Investigator
  Doris Trauner, MD, Co-Principal Investigator
  University of California, San Diego
  Updated 7/31/2012
• Characterization and Rescue of CTNS-iPS Cells
  One-Year Study - Funded October 2010
  Alan Davidson, PhD, Principal Investigator
  University of Auckland, New Zealand
  Updated 7/30/2012 - Final Report
• Studying Podocyte Function in Nephropathic Cystinosis
  Two-Year Study - Funded January 2011
  Elena Levtchenko, MD, PhD, Principal Investigator
  University of Leuven, Belgium
  Updated 7/12/2012
• Cystinosis Gene Repair
  Two-Year Study - Funded October 2010
  Patrick Harrison, PhD - Mentor
  Ciaran Lee - Research Fellow
  University College Cork, Ireland
  Updated 7/03/2012
• Molecular Study of Lysosomal Transporters Involved in the Cystine-Depleting Effect of Cysteamine
  Two-Year Study - Funded September 2010
  Bruno Gasnier, PhD, Principal Investigator
  Université Paris Descartes, Paris, France
  Ellen Closs PhD, Co-Principal Investigator
  Gutenberg University Medical Center, Mainz, Germany
  Updated 5/24/2012 
• Stem and Gene Therapy for Cystinosis
  One-Year Study - Funded January 2012
  Stephanie Cherqui, PhD, Principal Investigator and Mentor
  Brian Yeagy, PhD, Research Fellow
  The Scripps Research Institute, La Jolla, California
  Updated 7/03/2012
• Lessons from Cystinotic Mice
  Two-Year Study - Funded January 2010
  Pierre J. Courtoy, MD, PhD, Principal Investigator
  de Duve Institute, Brussels, Belgium
  Updated 4/26/2012
• 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 3/25/2012
• Proteomic 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 3/25/2012
• Elucidating the Role of Cystinosin-Deficient Macrophages in Nephropathic Cystinosis
  Two-Year Study
  Daryl Okamura, MD, Principal Investigator
  Allison Eddy, MD, Co-Principal Investigator
  Seattle Children's Research Institute, Seattle, WA
  Updated 2/2/2012
• 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

Research Updated 2011

• 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

Research Updated 2010

• 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 12/31/10
• 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 12/31/10
• 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
• 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 11/17/10
• 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
• 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 10/22/10
• 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 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 6/22/10
• 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 6/22/10
• 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
• 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 5/12/10
• 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 4/12/10
• 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
• 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 3/1/10
• 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
• 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 1/12/10
• 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

Research Updated 2009

• 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 12/22/09
• 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 12/20/09
• 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 12/18/09
• 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
• 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 04/22/09
• Characterization of the Interaction of Cystinosin with Galectin-3 and Vacuolar H+ATPase
  Two-Year Study - Funded October 2008
  Corinne Antignac, MD, PhD
  Hospital Necker, Paris France
  Updated 04/14/09
• Evaluation of Novel Corneal Imaging and Therapeutics in the CTNS Knockout Mouse Model
  Two-Year Study - Funded July 2008 Jennifer Simpson, MD
  James Jester, PhD
  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

Research Updated 2008

• 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
• 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 10/20/08
• Transcriptional and Post-Transcriptional Regulation of the CRNS Gene
  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
• Supplemental Support to Establish a Cystinosis Research Lab at the University of Michigan
  One-Year Study - 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

Research Updated 2007

• 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
• 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
• 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

Research Updated 2006

• 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
• 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

Research Updated 2005

• 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
  
• 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