November 2015 Grants Awarded

The Cystinosis Research Network is pleased to announce its grant awardees for 2016. These three grants represent one established Cystinosis researcher in Dr. Levtchenko’s group in Belgium, one esteemed neuroscience lab at Montefiore in the Bronx which is expanding their work into cystinosis, and one innovative newborn screening initiative in Germany led by Dr. Hohenfellner. The grants total over $200,000 in funding for 2016. They are:

"Mechanisms Underlying Neurocognitive Changes in Cystinosis" John Foxe, PhD, Sophie Molhom, PhD, Steven U. Walkley, DVM PhD, Co-Principal Investigators Departments of Neuroscience and Pediatrics and Pediatrics, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY Aims for the project are to explore sensory processing and multisensory integration as potential biomarkers using high-density electrophysiological mapping techniques in individuals with Cystinosis and to determine the cell biological contributions to neuronal dysfunction in Cystinosis and their impact on neural network connectivity. Grant Year One: $98,010

"Postpartal Screening for Cystinosis with urine dipsticks at the age of 12 weeks" PD Dr. med. Katharina Hohenfellner, LÄ Kindernephrologie, Kinderklinik Traunstein, Cuno-Niggl-str.3, 83278 Traunstein, Germany Dr. med. Uta Nennstiel Ratzel MPH, Leitung Sachgebiet GE4, Präsidentin der Deutschen Gesellschaft für Screening, Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit, Veterinärstr.2, 85762 Oberschleißheim Prof. Dr. med. Lothar Thomas, Emeritus Direktor Laboratoriumsmedizin , Klinikum Frankfurt Höchst, 65929 Frankfurt, Germany Prof. Dr. med Erich Harms, Emeritus Direktor, Kinderklinik Münster, 48149 Münster, Germany The objective of the present study is to determine if screening with urine strips can detect patients with Cystinosis during early childhood. This study plans to test infants born in Bavaria, during the next two years, with a urine dipstick at the age of 12 weeks. If this method yields valid as a screening method for Cystinosis, we plan to integrate it into the standard German child health care examinations. Total grant: $25,000

"Altered protein kinase signaling as a cause of reduced adhesion and increased motility of renal epithelial cells in Cystinosis" E. Ivanova, L. van den Heuvel, E. Levtchenko Katholieke Universiteit Leuven, Belgium In this project, we will focus on the altered cytoskeleton and increased motility of cystinedeficient human podocytes and proximal tubular epithelial cells that may underlie the increased renal cell loss in cystinosis and the development of kidney damage. We will also further investigate the mechanisms of altered vesicular trafficking that can link disturbed endocytosis to protein kinase signalling. Finally, we will study the effects of cysteamine and various protein kinase inhibitors on the abnormal phenotype of cystinotic cells. The obtained results will contribute to the understanding of the pathogenesis of cystinosis and will help identifying novel therapeutic targets to improve the treatment of the disease. Grant Year One: $77,000

We are happy to support all three groups important work and will report results back to the community.

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