THIS BLOG IS ALSO AVAILABLE AS AN AUDIO CAST From left to right: Baby Dalia pre-diagnosis, Dalia on her way to the kindergarten, and Dalia today. When Dalia was 5 years old, she was finally diagnosed with MERRF syndrome- an extremely rare form of mitochondrial disease. By then, her parents had been searching for an … Continue reading Rare Disease: An Uphill Battle for Diagnosis and Treatment
rare disease
A rare chance to help those in need
Recently the CIRM Board voted to support the creation of a Rare Disease Advisory Council (RDAC) in California. An RDAC is an advisory body providing a platform for the rare community to have a stronger voice in state government. They address the needs of rare patients and families by giving stakeholders an opportunity to make … Continue reading A rare chance to help those in need
Using film to break down barriers around rare disease
You can read about a disease or hear someone talking about it and be engaged and interested. But when you see and hear the people who have the disease talking about it and the impact it has on their lives, that's when a profound impact occurs. When you look into their eyes and hear them … Continue reading Using film to break down barriers around rare 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
Stem Cell Agency’s supporting role in advancing research for rare diseases
The recent agreement transferring GSK’s rare disease gene therapies to Orchard Therapeutics was good news for both companies and for the patients who are hoping this research could lead to new treatments, even cures, for some rare diseases. It was also good news for CIRM, which played a key role in helping Orchard grow to … Continue reading Stem Cell Agency’s supporting role in advancing research for rare diseases
Bridging the divide: stem cell students helping families with rare diseases become partners in research
CIRM's Bridges students and Rare Science's families with rare diseases Sometimes it’s the simplest things that make the biggest impact. For example, introducing a scientist to a patient can help them drive stem cell research forward faster than either one could do on their own. Want proof? This year, students in CIRM’s Bridges to Stem … Continue reading Bridging the divide: stem cell students helping families with rare diseases become partners in research
Raising awareness about Rare Diseases
On Rare Disease Day, Emily Walsh, the Community Outreach Director at the Mesothelioma Cancer Alliance, shared how her group is working to raise awareness about rare diseases, as well as the importance funding research new treatments.
Partnering with the best to help find cures for rare diseases
As a state agency we focus most of our efforts and nearly all our money on California. That’s what we were set up to do. But that doesn’t mean we don’t also look outside the borders of California to try and find the best research, and the most promising therapies, to help people in need. … Continue reading Partnering with the best to help find cures for rare diseases
Rare diseases are not so rare
It seems like a contradiction in terms to say that there are nearly 7,000 diseases, affecting 30 million people, that are considered rare in the US. But the definition of a rare disease is one that affects fewer than 200,000 people and the National Institutes of Health’s (NIH) Genetic and Rare Diseases Information Center (GARD) … Continue reading Rare diseases are not so rare
Stem Cells Profile in Courage: Pat Furlong, Patient Advocate
One of the true joys for me in helping put together this year’s Annual Report was getting to know the patients and patient advocates that we profiled in the report. These are some extraordinary individuals and the short profiles we posted only touch the surface of just how extraordinary. So, over the next few weeks … Continue reading Stem Cells Profile in Courage: Pat Furlong, Patient Advocate