Stunning advances in genetic science have revealed the subtle, insidious culprits behind these brutal [rare genetic] diseases and have started paving the way for treatments. But patients with these exceedingly rare mutations have fewer options and poorer prospects than those with more typical forms of these diseases — and many are now pinning hopes on experimental gene therapies.
It’s not just science that is working against these patients, it’s market forces. Drug companies are naturally going to look for medications that target the most common mutations.
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“You need a sufficiently large number of patients in a major market in order for a company to be interested in going forward,” said Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert, [which amounts to … “mutational discrimination.”
