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
Rare Diseases
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
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 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 disease. “When my youngest son, … Continue reading Winner of Beast Games becomes champion for his son’s rare disease
CIRM Supports Innovative Gene Therapy for Rare Heart Disorder
Image Source: American Heart Association Journals The California Institute for Regenerative Medicine (CIRM) awarded $4 million to support a gene therapy for rare life-threatening genetic disorder. A rare heart disorder Known as desmoplakin gene variant arrhythmogenic cardiomyopathy (DSP ACM), the genetic disorder is a rare heart disorder. This preclinical award went to Deborah D. Ascheim, … Continue reading CIRM Supports 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 who loves music and the beach, but his journey has been anything but ordinary. He was diagnosed with a rare mutation in the SCN2A gene, bringing significant challenges into his life. A few weeks after birth, he struggled with sleep and persistent stomach issues. By eight months … 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