The GLP is committed to full transparency. Download and review our just-released 2019 Annual Report.

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

| | February 13, 2019

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.

Related article:  Examining the legacy of W. French Anderson—'father of gene therapy' and convicted child molester

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

The GLP aggregated and excerpted this article to reflect the diversity of news, opinion, and analysis. Click the link above to read the full, original article.
News on human & agricultural genetics and biotechnology delivered to your inbox.
Optional. Mail on special occasions.

Send this to a friend