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). The odds of being born with LAD-1 are rare, literally one-in-a-million, but the disease is genetic, so the Langenhop’s unborn child had a roughly 25 … Continue reading CIRM-funded clinical trial gives siblings a second chance at life
Rare Diseases
Closer to Cures: Stanford researcher Crystal Mackall discusses progress on clinical trials for rare cancers of the brain and spine with no known cure.
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 that arise from a specific genetic mutation, known as H3K27M. These cancers are devastating. Each year, about 1,000 people … Continue reading Closer to Cures: Stanford researcher Crystal Mackall discusses progress on clinical trials for rare cancers of the brain and spine with no known cure.
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
Winner of Beast Games becomes champion for his son’s rare disease
Written by Holly Alyssa MacCormick You can do a lot with $10 million. Yet, when Jeffrey Randall Allen won the largest prize in game show history on Amazon Prime Video’s Beast Games there was only one thing he wanted to spend his $10 million on—research that might help find a cure for his son’s rare … Continue reading Winner of Beast Games becomes champion for his son’s rare disease
CIRM $4 million awarded to support innovative Gene Therapy for Rare Heart Disorder
Image Source: American Heart Association Journals The California Institute for Regenerative Medicine (CIRM) recently awarded $4 million to support the development of a one-time gene therapy for desmoplakin gene variant arrhythmogenic cardiomyopathy (DSP ACM), a rare and life-threatening genetic disorder. This preclinical award to Deborah D. Ascheim, MD, and her team at Rejuvenate Bio are … Continue reading CIRM $4 million awarded to support innovative Gene Therapy for Rare Heart Disorder
Turning Hope into Reality: How a Genetic Therapy Helped Connor
Photo credit: n-Lorem Connor Dalby is a 15-year-old teenager who loves music and the beach, but his journey has been far from ordinary. Diagnosed with a rare mutation in the SCN2A gene, his life has been filled with challenges. From the time he was just a few weeks old, he had trouble sleeping and struggled … Continue reading Turning Hope into Reality: How a Genetic Therapy Helped Connor
Joining the movement to fight rare diseases
THIS BLOG IS ALSO AVAILABLE AS AN AUDIO CAST It’s hard to think of something as being rare when it affects up to 30 million Americans and 300 million people worldwide. But the truth is there are more than 6,000 conditions – those affecting 200,000 people or fewer – that are considered rare. Today, … Continue reading Joining the movement to fight rare diseases
The Stem Cellar 