News

Transplanted Hematopoietic Stem Cells Reverse Damage Caused by Neuro-Muscular Disorder
-- Newswise, October 25, 2017. -Researchers at University of California San Diego School of Medicine report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich’s ataxia (FA) measurably halted cellular damage caused by the degenerative disease. The findings, published online in the October 25 issue of Science Translational Medicine, suggest a potential therapeutic approach for a disease that currently is considered incurable. In their study, Stephanie Cherqui, PhD, associate professor in the UC San Diego School of Medicine Department of Pediatrics, and colleagues used a transgenic mouse model that expresses two mutant human FXN transgenes, exhibiting progressive neurological degeneration and muscle weakness. Reprint » | Full Text »

Blood Stem Cell Transplants Treat Neurodegenerative Disease in Mice (Video)
-- EurekAlert. by Carla Schaffer / C.J. Rocca et al. / American Association for the Advancement of Science.

AVROBIO, Inc. Expands Rare Disease Pipeline with Gene Therapy to Treat Cystinosis
-- Business Wire, October 4, 2017. -Avrobio, Inc., a clinical-stage biotechnology company developing transformative, life-changing gene therapies for rare diseases, today announced the expansion of its pipeline to cystinosis. This program becomes AVROBIO’s fourth gene therapy for lysosomal storage disorders (LSDs), and with an anticipated IND filing later this year is expected to enter the clinic in early 2018. “This cystinosis program is a strong strategic fit with our pipeline,” said Geoff MacKay, AVROBIO’s President and Chief Executive Officer. “We are pleased to partner with Dr. Stephanie Cherqui and her team at the University of San Diego (UCSD), as well as with GenStem Therapeutics, Inc., as we share their vision of developing a novel and potentially transformative gene therapy for the treatment of patients with cystinosis.”

A life-threatening childhood disease and the CIRM-funded team seeking a stem cell cure featured in new video
-- Official Blog of California's Stem Cell Agency, April 13, 2017. “My hope for Brooke is she can one day look back and we have to remind her of the disease she once had.” That’s Clay Emerson’s biggest hope for his young daughter Brooke, who has cystinosis, a life-threatening genetic disease that appears by the age of two and over time causes damage to many organs, especially the kidneys and eyes but also the liver, muscle, brain, pancreas and other tissues. UCSD researcher Dr. Stephanie Cherqui, who is also featured in the video, received $5 million in CIRM funding to bring her team’s therapy to clinical trials in people.

2017 Natalie’s Wish Celebration. -- CRF, April 1, 2017. Hope filled the room as the Cystinosis Research Foundation, the largest fund provider of cystinosis research in the world, held its Natalie’s Wish Celebration at the Island Hotel in Newport Beach. The event was a record-breaking success, raising $3.5 million for cystinosis research. More than 475 guests attended the gala including 56 cystinosis families from around the world from Canada, Australia, Sweden, France, Ireland & Norway. The inspirational event concluded with all donations raised by cystinosis families, CRF friends and the community going to fund cystinosis research.

Cystinosis Research Foundation Grants Support Scientific Studies on Cell Function, New Treatments and the Quest for a Cure. -- MarketWired, February 07, 2017. $2.79 Million Awarded in 2016 to Fund 17 Research Projects in Five Countries. Among 9 funded projects in the US is the "Accelerated Research Program for Stem Cell Research" of Stéphanie Cherqui, Ph.D.

"Our work in the area of nanotechnology and corneal cystinosis will undoubtedly help other corneal diseases. The stem cell work conducted by Stéphanie Cherqui, Ph.D., (UCSD) will help treat other lysosomal and even neuro-muscular degenerative disorders. CRF research extends far beyond our community; it has the potential to treat millions of other people who suffer from other disorders." said CRF Founder Nancy Stack.

Natalie’s Wish. -- UC SanDiego Health Newsroom, October 21, 2016Cystinosis affects 2,000 children and young adults in the world, including 500 in the United States — and Natalie just happens to be one of them. In 2003, on the eve of her 12th birthday, Natalie wrote a wish in purple crayon on a restaurant napkin — to have my disease go away forever. Those heartbreaking words inspired Nancy and her husband, Jeff, to launch the Cystinosis Research Foundation. Since its inception, the Cystinosis Research Foundation has raised $35 million for scientific studies into the cause and treatments of the disease, supporting 143 studies in 12 countries.

Now, the Stacks, Clarkes and other cystinosis families are hoping for even better treatment options, and perhaps even a cure. To this end, the CRF has funded the work of Stephanie Cherqui, PhD, associate professor of pediatrics at UC San Diego School of Medicine, since 2012. “Dr. Cherqui is the rock star of our community,” Nancy said. “She cares deeply about the patients and is always available to talk, to explain her work and to give us hope. She has said years ago that she would never give up until she found the cure — and now we are closer than ever before.”

CIRM approves $5.2 million for Cystinosis Research. -- Rare Disease Report, September 22, 2016The California Institute for Regenerative Medicine (CIRM) approved a $5.2 million fund to help create a better and more safe life-long treatment for the childhood rare disease cystinosis. University of California, San Diego researcher Stephanie Cherqui, Ph.D. and her team believe there is a better way to help treat this disease than the already FDA approved therapy Cysteamine (Cystagon) which has shown delays in progression of the disease, has severe side effects and the patients taking it still require kidney transplants, and develop diabetes, neuromuscular disorders and hypothyroidism. The CIRM funding approved today will enable Cherqui and her team to do the pre-clinical work needed to show the approach appears to be both safe and effective for possible clinical trials in the future.