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 […]