Research Progress Report by Olivier Devuyst, MD, PhD, University of Zürich
“Role of Nutrient Sensing and mTORC1 Signaling in Cystinosis.” Objective/Rationale: Cystinosis is a lysosomal storage disease caused by loss-of-function mutations in the CTNS gene coding for the proton-driven transporter cystinosin (CTNS) that exports cystine out of lysosomes. The loss of CTNS results in the lysosomal cystine storage, causing early manifestations of kidney proximal tubule (PT) […]
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. […]
Could This Be The Cure?
The early results are in and the news is promising! Jordan Janz was transplanted on October 7, 2019. Since that time, he has not had any cysteamine treatment. The results at three months show a dramatic reduction in Jordan’s cystine levels which is the key measurement of cystinosis. The genetically repaired cells are doing their job! This is incredible […]
The First Stem Cell Transplanted Cystinosis Patient Returns Home!
We are excited to report that Jordan Janz, the first cystinosis patient to receive the autologous stem cell and gene therapy treatment as part of the FDA approved clinical trial, returned home to Canada. Jordan and his mom, Barbara Kulyk, lived in San Diego after Jordan was transplanted on October 7, 2019. Jordan is a true […]
CRF Awards $2,617,711 in New Grants in 2019
We are pleased to announce that CRF recently approved three new research grants totaling $856,488. The grants were awarded to Dr. Pierre Courtoy at de Duve Institute, Dr. Robert Mak at UC San Diego and Dr. Reza Seyedsadjadi at Massachusetts General Hospital. In 2019 CRF awarded a total of 10 new grants totaling $2,617,711 million. The […]
The First Cystinosis Patient was Transplanted!
October 7, 2019 was a day that will forever be remembered as a historic day for adults and children with cystinosis and their families. It’s a day that could very well mark the beginning of a world without cystinosis. Jordan Janz, age 20 from Consort, Alberta, was the first patient to receive a genetically modified […]
The Stem Cell and Gene Therapy Trial has Started!
We are thrilled to announce that following the FDA approval late last year, Dr. Cherqui’s clinical trial has officially begun at UCSD. CRF has funded Dr. Stéphanie Cherqui since 2006 issuing grants totaling over $5.4 million to support her research. The path to FDA approval was long and challenging, but Stéphanie never gave up. She remained focused […]
Cystinosis Research Foundation Awards $1,761,223 In New Research Grants
We are excited to announce that the CRF Scientific Review Board reviewed the cystinosis grant requests and recommended seven applications for funding, which total $1,761,223. Included was an award of $765,192 for our brilliant CRF researcher, Stéphanie Cherqui, PhD of UCSD, for the stem cell and gene therapy clinical trial, covering costs above and beyond the […]
Cystinosis Research Foundation Awards $2.4 Million in Research Grants
FOR IMMEDIATE RELEASE Spring Awards Fund 10 Scientific Studies in Five Countries, Bringing the Foundation’s Total Research Funding to $29.3 Million Since 2003 IRVINE, Calif. – September 24, 2018 – The Cystinosis Research Foundation, the largest provider of grants for cystinosis research in the world, announced today that it has awarded $2.4 million to date […]
