New Yorker Article about CF Drug

[Guest guest]

There's a very exciting article in the current issue of the New Yorker magazine

(dated May 4 with a green cover). The article has to do with a new treatment for

cystic fibrosis (CF). Like CMT, cystic fibrosis is passed on genetically and

stems from a faulty gene which interferes with the transport of chloride in the

body. That gene has been identified for nearly 20 years but no good cell-based

therapy or cure has been found until now.

The article describes the results of a study that used high-throughput screening

techniques to search for chemical compounds that could counter the effects of

the bad CF gene. The study was very expensive but yielded a drug that could be

taken orally and has been effective in extending the lives and capabilities of

CF patients.

According to the author, Jerome Groopman, this is the first drug shown to

restore the normal function of a mutated protein like the one that causes CF. He

says that the technology used to find the drug and the drug itself may have

broad ramifications beyond CF and he refers to some evidence that the CF drug

can offset the effects of Duchenne muscular dystrophy in mice. Duchenne MD is

another genetically-based disorder which, like CMT, affects nerves and muscles

throughout the body.

Much of the article describes how the research was financed since CF is not a

common disease (probably 1/5 or 1/6 as common as CMT in the U.S.) and the

American medicine community normally won't make big investments in finding cures

that don't have large markets. CF research is especially expensive since there

are more than 1600 mutations that can cause CF, compared to a few dozen that can

cause CMT. The author makes the point that drug companies made this investment

in part because they thought that what they learned could be applied to other

genetically-based diseases and these early outcomes seem to support that

conclusion. I think the nature of CMT and the vast amount we know about how CMT

works (probably more than is known about CF), make CMT very well positioned to

be one of the conditions which benefits from this discovery.

The author also highlights the novelty and effectiveness of the

high-throughput-screening technology used to discover the drug. I'm really happy

to point out that this technology provides the foundation for the CMTA's STAR

project which is underway now. You can read more about the STAR project at

http://www.charcot-marie-tooth.org/STAR.php

Fortunately, the nice people at the New Yorker have posted the article on their

website. You can read it online or print it out by going to

http://www.newyorker.com/reporting/2009/05/04/090504fa_fact_groopman You'll

need to register but that's quick and costs nothing.

-------------- Rick Alber

[Guest guest]

That is am amazing article. Such good news for so many families. This is

something I will keep my eye on as well!

Thank you Rick.

I needed some hope today.