The promise of gene therapy looms large for families dealing with rare, genetic disorders. Such treatments offer the possibility of one-time cures. But families and researchers worry such therapies will remain out of reach.
Collectively, about 350 million people worldwide suffer from rare diseases, most of which are genetic. But each of the 7,000 individual disorders affects perhaps a few in a million people or less. So there’s little commercial incentive to develop or bring to market these one-time therapies to fix faulty genes or replace them with healthy ones.
The Associated Press examined what this means for families, scientists and the nascent field of gene therapy. Here are key takeaways from AP’s report. Camden Alderman was diagnosed as a baby with a rare disease called Wiskott-Aldrich syndrome, which is caused by a mutated gene on the X chromosome.
It primarily affects boys – up to 10 out of every million — and can cause frequent infections, eczema and excessive bleeding. When he was a toddler, doctors removed his spleen because of uncontrolled bleeding. As a young boy, he wound up in the hospital many times and was told he couldn’t play baseball.
His mother Robin Alderman recalls one doctor saying: “Basically, your son’s only chance at a cure is going to be gene therapy.” He also told her researchers weren’t then accepting U.S.
residents into a clinical trial for the treatment, which “just kind of broke my heart,” she said. There’s still no cl.