Jordan Janz knows how lucky he is. It's been almost six years since Jordan volunteered to be patient number one in a clinical trial at the University of California, San Diego (UCSD) to test a new treatment for cystinosis. People with this rare genetic disease accumulate the amino acid cystine in their organs. The toxic … Continue reading Treatment for one rare disease but plans for many more
rare disease
CIRM funded clinical trial gives siblings a second chance at life
written by Holly Alyssa MacCormick Image Credit: The Langenhop Family Alicia Langenhop was seven months pregnant with her third child when she and her husband, Jon, learned that their two toddlers had a life-threatening immune disease called leukocyte adhesion deficiency-1 (LAD-1). One in a million LAD-1 is extremely rare—about one in a million births—but because … Continue reading CIRM funded clinical trial gives siblings a second chance at life
Stanford researcher Crystal Mackall discusses progress on rare cancers clinical trials
Written by Holly Alyssa MacCormick In 2023, the California Institute for Regenerative Medicine (CIRM) funded a clinical trial led by Stanford researcher Crystal Mackall, MD, to investigate a possible therapy for rare brain and spinal tumors. Devastating cancers These cancers, that arise from a specific genetic mutation, known as H3K27M, are devastating. Each year, about … Continue reading Stanford researcher Crystal Mackall discusses progress on rare cancers clinical trials
CIRM board supports a rare disease funding plan, administrative changes
Written by Holly Alyssa MacCormick South San Francisco, CA, January 30, 2026 – As many as 1 in 10 people in the U.S. has a rare disease, many of which have no known cure. A new program by the California Institute for Regenerative Medicine (CIRM) could change this by funding novel ways to develop multiple … Continue reading CIRM board supports a rare disease funding plan, administrative changes
New program to help patients with rare disease
Recently, the California Institute for Regenerative Medicine (CIRM) announced a new approach for how its funding can advance treatments for people living with rare diseases. Individually, few people have any single rare disease, but in aggregate, about 30 million people in the U.S. have one of the roughly 10,000 rare diseases, and 95% have no … Continue reading New program to help patients with rare disease
Early-stage research could benefit those with genetic diseases
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
Winner of Beast Games becomes champion for his son’s rare disease
You can do a lot with $10 million. Yet when Jeffrey Randall Allen won the largest prize in Amazon Prime Video’s Beast Games, he wanted to use it for one purpose: supporting research that might help cure his son’s rare disease. “When my youngest son, Lucas, turned eight months old, we noticed he was missing … Continue reading Winner of Beast Games becomes champion for his son’s rare disease
Gene therapies for Friedreich’s Ataxia: A conversation with Liz Soragni, PhD
Liz Soragni, PhD, Director of Research at the Friedreich’s Ataxia Research Alliance In the fall of 2024, the California Institute for Regenerative Medicine (CIRM) helped sponsor the Gene Therapy Initiative symposium in La Jolla, CA. While there, CIRM staff caught up with a few CIRM grantees who are working on gene therapy approaches to treating … Continue reading Gene therapies for Friedreich’s Ataxia: A conversation with Liz Soragni, PhD
CIRM awards $2.8 million to develop a gene therapy for rare neuromuscular disorders
Credit: Shutterstock The California Institute for Regenerative Medicine (CIRM) announced in January $100 million in funding for a broad range of projects, including four to support clinical programs. One of these was a $2.8 million award to Patricio Sepulveda, PhD, MBA, CEO of Amplo Biotechnology, Inc. That grant will support the development of a gene … Continue reading CIRM awards $2.8 million to develop a gene therapy for rare neuromuscular disorders
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