09/16/2025
Today, I'm posting a bit of a different take on my usual post on this Tuesday.
๐๐ข๐ณ๐ฆ ๐ธ๐ช๐ต๐ฉ ๐ฎ๐ฆ. ๐ซถ
Since the early 1950's, the Cystic Fibrosis Foundation has been IDS'ing for a cure for CF.
๐ญ๐ต๐ด๐ต: The CFTR gene, which causes cystic fibrosis, was discovered by a team of scientists led by Francis Collins working at the University of Michigan. The discovery was made using a technique called positional cloning, which involved using genetic linkage analysis to pinpoint the gene's location on chromosome 7.
Yes, they got to the ๐ฟ๐ผ๐ผ๐ ๐ฐ๐ฎ๐๐๐ฒ, and have been attacking this root cause ever since!
They're not just treating the ๐๐๐บ๐ฝ๐๐ผ๐บ๐ - ๐๐ต๐ฒ๐ ๐ฎ๐ฟ๐ฒ ๐๐ผ๐ฟ๐ธ๐ถ๐ป๐ด ๐๐ผ๐๐ฎ๐ฟ๐ฑ๐ ๐ฎ ๐ฐ๐๐ฟ๐ฒ!
๐๐ฆ๐ฆ ... ๐๐๐'๐ช๐ฏ๐จ. ๐๐ฐ๐ณ๐ณ๐บ. ๐๐ฐ๐ต ๐ด๐ฐ๐ณ๐ณ๐บ. EOS Worldwide
๐ญ๐ต๐ต๐ฏ: The FDA approved Pulmozyme, the first drug developed specifically for CF. It helps thin the thick mucus in the lungs.
๐ฎ๐ฌ๐ญ๐ฌ: Universal newborn screening for CF was instituted in all 50 U.S. states, allowing for earlier diagnosis and more immediate care that improves growth and lung health.
๐ฎ๐ฌ๐ญ๐ฎ (Kalydeco): The FDA approved ivacaftor (Kalydeco), the first drug to treat the underlying cause of CF.
๐ฎ๐ฌ๐ญ๐ฑ (Orkambi): A combination of lumacaftor and ivacaftor (Orkambi) was approved for patients homozygous for the F508del mutation.
๐ฎ๐ฌ๐ญ๐ต (Trikafta): A highly effective triple-combination modulator, elexacaftor/tezacaftor/ivacaftor (Trikafta), was approved for people with at least one copy of the F508del mutation.
๐ช๐ต๐ฎ๐'๐ ๐ก๐ฒ๐
๐?
Gene therapy and gene editing: Approaches using viral and non-viral vectors are currently in clinical trials. These therapies aim to deliver a functional copy of the CFTR gene to lung cells or use gene-editing tools like CRISPR to correct the faulty gene.
That's traction! ๐ช
The Cystic Fibrosis Foundation's "Path to a Cure" initiative is funding diverse approaches to accelerate new treatments for all CF mutations, with the ultimate goal of a cure.
In 1989, when the defective gene that causes CF was discovered, Dr. Collins and his team announced that the path to cure would not be in a straight line, and in fact would be a mountain to climb.
We're on that mountain right now.
And as an uncle to two nieces born with CF, I'm more determined than ever to get us to the summit.
Join me:
๐ https://fundraise.cff.org/roseup/65milesin65hoursforCF
We will be the generation that finds the cure for CF!
With gratitude ~
ย I am excited to share that my 6.5 x 6.5 x 65 endurance challenge is a part of National ROSE UPย Day on September 18, 2025.ย ย ROSE UP, now in its sixth year, is a national virtual fundraising event created and led by adults with cystic fibrosis (CF). This inspiring event brings the CF community ...
