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A cure for cystinosis can only be found through a highly cooperative approach that involves those afflicted by the disease, their families, and the medical community. A major focus of the Cystinosis Research Network continues to be a determined effort to secure a promising future for the cystinosis community through the support and funding of research grants that lead to improved treatments and ultimately a cure for cystinosis. CRN has a current research commitment of over $300,000.00 and has funded $4.5 million total in research grants and fellowships. Following are updates on CRN funded research projects.

OCTOBER 2018

Study of Neuronal Structure and Function Changes in Cystinosis
Principal Investigators: John Foxe, PhD and Krishnan Padmanabhan, PhD

APRIL 2017

Laymen’s Summary: Altered Protein Kinase Signalling as a Cause of Reduced Adhesion and Increased Motility of Renal Epithelial Cells in Cystinosis
Principal Investigator: Dr. Elena Levtchenko

OCT 2016

Research Grant Updates Fall 2016

JAN 2013

Final Report: Functional Characterization of Cystinosin-LKG
Principal investigator: Francesco Emma, MD, Co-investigator: Anna Taranta, Ph.D.

Progress Report: Genotype-Phenotype in Egyptian Patients with Nephropathic Cystinosis
by Dr. Neveen Soliman and Dr. Elena Levtchenko

Progress Report: A proteomic investigation of cystinotic cells and the effects of cysteamine treatment.
Jill Jobson, Noel Carter, Ken McGarry, Achim Treumann‡ and Roz Anderson Faculty of Applied Science, School of Pharmacy, University of Sunderland, UK ‡ University of Newcastle Upon Tyne, Newcastle, UK

Progress Report: Study of skin changes in cystinosis patients under cysteamine therapy
Fellow: Martine Besouw, MD, Mentors: Elena Levtchenko, MD, PhD, Lambertus vanden Heuvel, PhD

MAY 2012

Newborn Screening Research
Elevated concentrations of seduheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnosis and neonatal screening

FEB 2011

The Living with Cystinosis Survey Results

OCT 2010

Cystinosis Patients Survey Results: Survey Sheds Light on the Needs of Cystinosis Patients

SEPT 2010

Professional Paper and Final Report: The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies
Christopher Larsen, Patrick Walker, and Jess Thoene

AUG 2010

15th Congress of the International Pediatric Nephrology Association The Cystinosis Research Network Symposium
The Cystinosis Research Network Symposium – Official Program

JULY 2010

2nd Progress Report: Functional Characterization of Cystinosin- LK
Francesco Emma, M.D. and Anna Taranta, Ph.D.

NOV 2009

Final Report: Gene Transfer Studies for Cystinosis
Vasiliki Kalatzis, MD

AUG 2009

6-month Progress Report: Functional Characterization of Cystinosin- LK
Francesco Emma, M.D. and Anna Taranta, Ph.D.

JUNE 2009

CRN 18-mo progress update – Gene transfer studies for Cystinosis
Vasiliki Kalatzis, M.D.

FEB 2009

Final Report: Study of ATP metabolism in human cystinotic proximal tubular cells and in humans with cystinosis in vivo
E. Levtchenko, M.D., PhD; M. Wilmer, PhD student

FEB 2009

Final Report: Evaluation of Novel Prodrugs for the Treatment of Nephropathic Cystinosis
Dr. Rachel Knott, Dr. Graeme Kay and Professor Donald Cairn, M.D.

DEC 2008

Final Report: Design and Synthesis of Novel Prodrugs for the Treatment of Cystinosis
Donald Cairn, M.D.

DEC 2008

Final Report: Early Intervention Trial for Visual Processing Deficit in Cystinosis
Doris A. Trauner M.D.

NOV 2008

CRN 12 Month Progress Update – Gene Transfer Studies for Cystinosis
Viki Kalatzis, PhD, and Eric J. Kremer, PhD

AUG 2008

Publication: Gene Transfer May be Preventative But Not Curative for a Lysosomal Transport Disorder
The American Society of Gene Therapy | Partially funded by CRN

AUG 2008

1 year progress report: Development of a Cysteamine in Situ Gelling System for the Treatment of Corneal Crystals in Cystinosis
Bolanle Lawal

AUG 2008

Final Report: Evaluation of Novel Prodrugs for the Treatment of Nephropathic Cystinosis
Dr Rachel Knott, Dr Graeme Kay and Professor Donald Cairn

AUG 2008

6 month Progress update: Study of ATP Metabolism in Human Cystinotic Proximal Tubular Cells and in Humans with Cystinosis in Vivo
Report: E. Levtchenko, MD, PhD

MAR 2008

Publication: A Potential New Pro-Drug for the Treatment of Cystinosis: Design, Synthesis and in-Vitro evaluation
Bridgeen McCaughan, et. al.

MAR 2008

Publication: Cystine Accumulation in the CNS Results in Severe Age-Related Memory Deficits
Maurice, et. al.

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