Shortcomings of new cystic fibrosis treatments illustrate the complexity of some genetic diseases

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Hillman mixes together a liquid antibiotic and sterile water to fill his medical air nebulizer with. Image credit: Kayana Szymcak/STAT

Josh Hillman, a 23-year-old Harvard Law student from Alabama, has cystic fibrosis, the progressive genetic disease that causes frequent lung infections and wears on other organs.

[C]ystic fibrosis is not caused by one mutation, or a handful, but more than 1,500 different rearrangements in the code for the gene known as CFTR. The cutting-edge treatments — there are three available now and a fourth, still-experimental medication expected to be approved, all from Vertex Pharmaceuticals — cover the mutations held by some 90 percent of CF patients.

That leaves up to 10 percent of people whose diseases are advancing without a powerful defense to slow them down. Hillman is among them.

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Patients who are not eligible for the new medications have been left wondering if the kinds of treatments available to others will reach them in their lifetimes. And there is a time imperative: Only half of people who are born today with CF will live into their late 40s.

It’s a reminder that with complicated genetic diseases, progress, while rightly celebrated, doesn’t always extend to everyone at the same time.

Read full, original post: ‘We’re still waiting’: As cystic fibrosis drugs deliver new hope, not everyone is being swept up by scientific progress

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