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Research Progress Report by Jennifer Hollywood, PhD, and Alan Davidson, PhD, University of Auckland, New Zealand

The goal of this study is to conduct therapeutic drug intervention studies in Ctns knock-out rats to determine whether a combination treatment of cysteamine and Everolimus provides greater therapeutic benefit than cysteamine alone. CRF has granted research funding to the University of Auckland since 2009, awarding $805,143 for the important research conducted by Dr. Hollywood …

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Research Progress Report by Michael Sekar, PhD, AMMA Therapeutics, Inc.

In the spring of 2020, CRF awarded a grant to AMMA Therapeutics for $304,064, the aim of their study is to develop a once-daily subcutaneous injection of cysteamine bitartate.  The project is led by Michael Sekar, PhD, Principal Investigator, and Laura Rita Rega, PhD, Co-Principal Investigator. The project is comprised of three specific Aims.  Aim …

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Dr. Cherqui Update from UCSD Stem Cell and Gene Therapy Clinical Trial!

CRF has a positive update from the UCSD Stem Cell and Gene Therapy clinical trial! This trial is possible because of the dedication and commitment of CRF families and donors who supported the early research and continue to support this trial today. We are so thankful to the first three patients who volunteered for the …

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Final Research Progress Report Ming Li, PhD and Jacob Kitzman, PhD, University of Michigan

The research study, “Dissect the Protein Turnover Mechanism of Cystinosis Mutants” received a CRF research grant of $285,648 in 2018.  Dr. Li explained in lay terms the purpose of the study,  “some people consider it as an “overkill” for grocery stores to throw away expired food even though most of them can still be consumed. …

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Final Research Progress Report Sihoun Hahn, MD, PhD, Seattle Children’s Hospital Research Institute

CRF has supported Dr. Hahn’s important research since 2017, awarding $234,458 for his research on Newborn Screening.  The aim of the study was to develop and validate a specific and quantitative assay for newborn screening of cystinosis. Objective/Rationale Newborn screening (NBS) has proven to be highly effective at reducing healthcare costs, improving outcomes, and avoiding …

Final Research Progress Report Sihoun Hahn, MD, PhD, Seattle Children’s Hospital Research Institute Read More »

Research Progress Report by Liang Feng, PhD, Mentor and Xue Guo, PhD, Fellow

CRF has supported Dr. Feng at Stanford University since 2015, awarding him $525,000 for his important research on the Molecular Mechanisms of Cystinosis. The goal of the study is to decipher the membrane transporters found on lysosomes that play critical roles in the pathogenesis and therapy of cystinosis.  Download Dr. Feng’s final progress report for …

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Research Progress Report Update by Pierre J. Courtoy, MD, PhD

Evaluation of Ctns-/-Mice Protection by Oral Supplementation with Basic Amino-Acids:  Focus on Kidneys – Extension to Another Colony Since 2016, CRF has supported Pierre Courtoy MD, PhD, and Christophe Pierreux, PhD, with $504,728 in grant funding for their important research studies at the de Duve Institute in Brussels, Belgium. Despite the challenges with Covid-19, they …

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