Written by Holly Alyssa MacCormick Image Credit: Audrey Davidow－Calvin outside Wanting the best for your child is a universal experience, and Audrey Davidow wanted her baby to have a bright future full of possibility. But in March of 2012, her 13-month-old son Calvin was diagnosed with a rare disease called Pitt Hopkins Syndrome, and she … Continue reading Early-stage research could benefit those with genetic diseases
Patient Story
Breaking barriers in rare disease: A gene therapy transforms cystinosis treatment
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
Potential Gene Therapy for Children with ADA-SCID
Photo Courtesy of Andrea Fernandez de Soto Imagine stepping outside and facing life‑threatening danger. For children born with ADA‑SCID (adenosine deaminase severe combined immunodeficiency), this is daily life. Their immune systems are so weak that a cold or a scraped knee can cause a dangerous infection. Donald Kohn, MD, a leading researcher at the UCLA … Continue reading Potential Gene Therapy for Children with ADA-SCID
Where Are They Now: Jake Javier
On the first day, of the 2024 CIRM Trainee Network Conference, Jake Javier took shared his experience as a clinical trial patient, as how he benefited from the innovative trial. The event done in partnership with the University of Southern California (USC) gave trainees from CIRM’s education and training programs an opportunity to engage with … Continue reading Where Are They Now: Jake Javier
Tackling sickle cell disease from within
Photo Credit: Jaquell Chandler Evie Junior was born with sickle cell disease, a life-threatening condition that affects around 100,000 Americans, most of them Black and Latino. People with sickle cell disease have blood cells that are shaped like a hook (or sickle) rather than smooth and round, which can create clogs, causing intense pain, organ … Continue reading Tackling sickle cell disease from within