A 12 year-old Kurt Gillenberg. Photo courtesy of Kurt Gillenberg. When Kurt Gillenberg was 10 months old, his parents knew something wasn’t right. But it wasn’t until he reached 18 months that they found a doctor at the University of California, San Diego, who diagnosed Kurt with cystinosis – a rare genetic, metabolic defect that … Continue reading Breaking barriers in rare disease: A gene therapy transforms cystinosis treatment
cystinosis
Novartis acquisition validates CIRM’s impact on cystinosis treatment
Dr. Stephanie Cherqui The future looks brighter for cystinosis patients and their families. As one of 7,000 rare diseases, cystinosis causes an abnormal build-up of the amino acid cystine that can lead to organ failure and premature death. With little to no treatment options, children and young adults primarily affected by the condition often have … Continue reading Novartis acquisition validates CIRM’s impact on cystinosis treatment
An experimental cystinosis treatment changed hair color
In October 2019, 20‑year‑old Jordan Janz became the first person to receive an experimental gene therapy for cystinosis. A rare disorder Cystinosis is a rare genetic disorder in which cystine builds up in organs such as the kidneys, eyes, muscles, liver, pancreas, and brain. This buildup leads to multi‑organ failure and usually causes premature death. … Continue reading An experimental cystinosis treatment changed hair color
CIRM funded trial may pave way for gene therapy to treat different diseases
Image Description: Jordan Janz (left) and Dr. Stephanie Cherqui (right) According to the National Organization for Rare Disorders (NORD), a disease is consider rare if it affects fewer than 200,000 people. If you combine the over 7,000 known rare diseases, about 30 million people in the U.S. are affected by one of these conditions. A … Continue reading CIRM funded trial may pave way for gene therapy to treat different diseases
Two rare diseases, two pieces of good news
Dr. Stephanie Cherqui Last week saw a flurry of really encouraging reports from projects that CIRM has supported. We blogged about two of them last Wednesday, but here’s another two programs showing promising results. UC San Diego researcher Dr. Stephanie Cherqui is running a CIRM-funded clinical trial for cystinosis. This is a condition where patients … Continue reading Two rare diseases, two pieces of good news
‘A Tornado at the Front Door, a Tsunami at the Back Door’
CIRM funds a lot of research and all of it has life-saving potential. But every once in a while you come across a story about someone benefiting from CIRM-supported research that highlights why the work we do is so important. This story is about a brilliant researcher at UC San Diego developing a treatment for … Continue reading ‘A Tornado at the Front Door, a Tsunami at the Back Door’
The Top CIRM Blogs of 2019
This year the most widely read blog was actually one we wrote back in 2018. It’s the transcript of a Facebook Live: “Ask the Stem Cell Team” event about strokes and stroke recovery. Because stroke is the third leading cause of death and disability in the US it’s probably no surprise this blog has lasting … Continue reading The Top CIRM Blogs of 2019
“A new awakening”: One patient advocate’s fight for her daughters life
We often talk about the important role that patient advocates play in helping advance research. That was demonstrated in a powerful way last week when the CIRM Board approved almost $12 million to fund a clinical trial targeting a rare childhood disorder called cystinosis. The award, to Stephanie Cherqui and her team at UC San … Continue reading “A new awakening”: One patient advocate’s fight for her daughters life
CIRM Board Approves New Clinical Trial for Rare Childhood Disease
Today the governing Board of the California Institute for Regenerative Medicine (CIRM) approved a grant of almost $12 million to Dr. Stephanie Cherqui at the University of California, San Diego (UCSD) to conduct a clinical trial for treatment of cystinosis. This award brings the total number of CIRM funded clinical trials to 55. Cystinosis is … Continue reading CIRM Board Approves New Clinical Trial for Rare Childhood Disease
Rare disease gets go-ahead to run clinical trial
Cystinosis is one of those diseases most people have never heard of and should be very grateful they haven't. It's rare - affecting only around 500 children and young adults in the US and just 2,000 people worldwide - but it's nasty. Up to now the treatments for it have been very limited. But a … Continue reading Rare disease gets go-ahead to run clinical trial