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 […]
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 […]
JOIN OUR JOURNEY TO A CURE ON RARE DISEASE DAY!
There are approximately 7,000 rare diseases that affect 30 million people in the U.S. and 300 million people in the world, and only 5% have an FDA-approved treatment. Cystinosis affects approximately 2,000 people in the world, and we are fortunate to have a treatment. In fact, as a direct result of CRF’s funding and strategy […]
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 […]
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. […]
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 […]
Stem Cell Trial Update: One Year Later-Jordan Janz Shares His Thoughts
I definitely feel better today than when I had cystinosis. In the mornings I can go a couple of hours or so without eating and still feel fine, whereas before the transplant if I didn’t eat something as soon as I got up, I would feel very sick. I definitely don’t feel as sick all […]
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 […]
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 […]
Stem Cell and Gene Therapy Webinar Update Video Now Available!
Stem Cell and Gene Therapy Trial Update with Dr. Stéphanie Cherqui, Jordan Janz, and Barb Kulyk Presented Tuesday, October 27, 2020 We had a record of 309 people participating from 20 countries around the world. The participants represented the myriad of people in our community; adults with cystinosis, parents of children and adults with cystinosis, […]