Poster Session Participants
Research/Clinical:
1.
“Delayed Diagnosis of Nephropathic Cystinosis in Mexico”. Leticia Belmont-Martinez,
Marcela Vela-Amieva, Isabel Ibarra-González, Cynthia Fernández-Lainez, Sara Guillén-López,
Susana Monroy-Santoyo. Laboratorio de Errores Innatos del Metabolismo y Tamiz, Mexico City
2.
“Cystinosis in Emerging Adulthood”. Maya Doyle, LCSW, PHD, New York University &
Children’s Hospital at Montefiore
3.
“Identifying protein specific thiol redox changes and metabolic consequences in
cystinosis”. Ilya Gertsman, Majid Ghassemian, Bruce Barshop. Department of Pediatrics,
University of California, San Diego, La Jolla, California
4.
“Increased shedding of renal epithelial cells in nephropathic cystinosis”. Ekaterina A.
Ivanova (1), Fanny Oliveira Arcolino (1), Laura Giardinao (2), Maria Pia Rastaldi (2),
Lambertus Van den Heuvel (1), Elena Levtchanko (1). (1) KU Leuven, Leuven, Belgium. (2)
Renal Research Laboratory, Fondazione IRCCS Policlinico & Fondazione D’Amico, Milano,
Italy
5.
“A quantitative proteomic investigation of cystinotic fibroblasts and prximal tubule
epithelial cells.” Jill Jobson, Noel Carter, Ken McGarry, Achim Treumann (1) and Roz
Anderson. Sunderland Pharmacy School, Sciences Complex, University of Sunderland,
Sunderland, UK. (1) Biopharmaceutical Bioprocessing Technology Centre, University of
Newcastle upon Tyne, Newcastle, UK
6.
“Cystinosis in the Heart of the Second Inherited Kidney Disease Workshop (IKDW2)”.
Neveen A. Soliman, Department of Pediatrics, Center of Pediatric Nephrology &
Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt. Egyptian
Group for Orphan Renal Diseases, Cairo, Egypt
7.
“Visual Cognition in Nephropathic Cystinosis: A Longitudinal Analysis”. Victoria P.
Wooley, Amy Spilkin, Ph.D., Angela O. Ballantyne, Ph.D., Doris A. Truaner, M.D., Departments
of Neurosciences and Pediatrics, UC San Diego School of Medicine, La Jolla, California and
Rady Children’s Hospital, San Diego, California
8.
"Myopathy of cystinosis and recombinant Growth Hormone:mechanism and possible
therapy". Galina Nesterova, M.D., Cystinosis Research Network Cystinosis Fellow, Medical
Genetics Branch, National Human Genome Research Institute, National Institutes of Health,
Bethesda, MD
9.
“Cystine crystals are an inflammasome activating danger signal: possible implicationsfor
the pathogenesis of cystinosis”. Giui Prencipe(1), Ivan Caiello(1), Stephanie Cherqui(2),
Thomas Whisenant(2, Stefania Petrini(3), Francesco Emma(5), Fabrizio De Benedetti(1), (1)
Division of Rhematology, Bambino Gesu Children’s Hospital, Roma, Italy, (2) Department of
Pediatrics, Division of Genetics, University of Californai, San Diego, USA, (3) Confocal
Microscopy Core Facility, Research Laboratories, Bambino Gesu Children’s Hospital, Roma,
Italy, (5) Department of Nephrology and Urology, Bambino Gesu Children’s Hospital, Roma,
Italy
10.
“Cystinosin-LKG: new insight in subcellular distribution”. Francesco Bellomo, Anna
Taranta, Stefania Petrini, Laura Rita Rega and Fracesco Emma, Department of Nephrology and
Urology, Division of Nephrology and Dialysis, Bambino Gesu Children’s Hospital and Research
Institute, Rome, Italy
Industry/Advocacy:
1.
Cystaran (cysteamine ophthalmic solution) 0.44%, Lesli King, Senior Manager, Patient
Affairs, Sigma Tau Pharmaceuticals, Inc., Gaithersburg, Maryland
2.
“A Randomized Controlled Crossover Trial for Nephropathic Cystinosis Demonstrates a
Twice Daily ‘Gastroresistant’ Cysteamine is Not Inferior to Every Six Hour Cystagon.” CB
Langman (1), D Matossian (1), LA Greenbaum (USA), M Sarwal (USA), PC Grimm (USA), PR
Niaudet (France), G Deschenes (France), D Morin (France, E Cornelissen (Netherlands), P
Cochat (France), S Gaillard (France), MJ Bagger (2), and P Rioux (2). (1) Feinberg School of
Medicine, Northwestern University, Chicago IL, and (2) Raptor Therapeutics, Inc.
3.
“Extended Treatment with RP103 (Procysbi™) in Patients with Nephropatic Cystinosis”,
CB Langman (1), C Hanna (1), LA Greenbaum (USA), PC Grimm (USA), PR Niaudet (France),
G Deschenes (France), D Morin (France), E Cornelissen (Netherlands), P Cochat (France), E.
Elenberg (USA), H Price (1), MJ Bagger (2), and P Rioux (2), (1) Feinberg School of Medicine,
Lurie Children’s Hospital of Chicago, Northwestern University, Chicago, IL and (2) Raptor
Therapeutics, Inc., Novato, CA
4.
“Cystinosis Research Network Scholarship Program”, Pam Woodward
5.
“Achieving Patient-Centered Goals Through an Empowered Rare Disease Patient
Community”. Mary E. Cobb, Senior Vice President, National Organization for Rare Disorders
(NORD), Danbury, CT
6.
“Cystinosis Mexico: Past, Present and Future”. Mexican Organization of Cystinosis,
Victor Gomez, President