Updates

Jan 2013

Final Report: Functional Characterization of Cystinosin-LKG

Principal investigator: Francesco Emma, MD, Co-investigator: Anna Taranta, Ph.D.

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

Oct 2010

Cystinosis Patients Survey Results:

Survey Sheds Light on the Needs of Cystinosis Patients

Sept 2010

Aug 2010

July 2010

2nd Progress Report: Functional Characterization of Cystinosin- LK

Francesco Emma, M.D. and Anna Taranta, Ph.D.

Nov 2009

Aug 2009

6-month Progress Report: Functional Characterization of Cystinosin- LK

Francesco Emma, M.D. and Anna Taranta, Ph.D.

June 2009

Feb 2009

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

Dec 2008

Nov 2008

CRN 12 Month Progress Update - Gene Transfer Studies for Cystinosis

Viki Kalatzis, PhD, and Eric J. Kremer, PhD

Aug 2008

Aug 2008

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

Mar 2008

Mar 2008

June 2007

Sept 2006

Aug 2006

Apr 2005

Cystinosis Research Progress Report

Dr. Jess G. Thoene | Partially funded by CRN