Research News

Research 'Breakthroughs' That Weren't: AT

  • Playlist
  • Download
  • Embed
    <iframe src="" width="100%" height="290" frameborder="0" scrolling="no" title="NPR embedded audio player">
  • Transcript

Medical researchers are always hoping new discoveries will ultimately lead to a cure. But sometimes a "breakthrough" takes years to become a benefit. When the gene that causes ataxia telangiectasia (AT) was found, it was seen as a breakthrough — but 11 years later, there's still no treatment.



Nearly every week, scientists report some new finding that they hope will lead to at least an improved treatment, if not a cure, for some dread disease. And while it may seem that these new treatments are just around the corner, the reality is quite different. It takes a long time to turn a basic research finding into medical therapy and sometimes it doesn't happen at all. NPR's Joe Palca is looking into a number of research advances that he reported on a decade or more ago to see what happened.

JOE PALCA reporting:

Eleven years ago, I reported on what seemed to be a very promising scientific breakthrough. A team of scientists had discovered a gene responsible for a rare but fatal disease called ataxia-telangiectasia(ph), or AT. One of the men most excited about this development was Brad Margus. He has two sons with the disease. At the time, Jarrett and Quinn were four and six years old. Here's Margus speaking at the news conference when the discovery of the gene was announced.

Mr. BRAD MARGUS (CEO, Perlegen Sciences): The future doesn't look good for them. Probably by the time Jarrett's 10, he'll be in a wheelchair. And his younger brother Quinn will have to watch, knowing that he's going to be there too.

PALCA: People who suffer from AT, like Margus's sons, lose their ability to control their muscles, then their immune systems break down. Most don't live to the age 30. Although he's a businessman by profession, Margus probably knows as much about AT as anyone. And he's the CEO of Perlegen Sciences, a company that analyzes human genomes.

In the 11 years since that press conference, Margus has watched his sons' conditions decline.

Mr. MARGUS: When that discovery was made in 1995, they were both running around and we knew they had this terrible disease, but it really hadn't gotten too bad yet. Today they're 15 and 17, they're home-schooled, they are in motorized wheelchairs, they can't walk anymore, and they need help being fed. So the disease has taken its course.

PALCA: Scientists have made progress in the last 11 years, but the progress has been more scientific than therapeutic. Margus says in some genetic diseases the gene involved makes one protein, and by replacing that protein you can essentially cure the disease. Or that gene can have a more general effect on the body. So you can't switch it off or replace it without having widespread consequences.

Mr. MARGUS: Unfortunately for us, the latter was what happened.

PALCA: The gene involved in AT seems to play a role in responding to all kinds of stresses that effect cells. Researchers have produced thousands of scientific papers as they try to figure out all the disease the AT gene may have some role in. And this research could someday lead to therapies for a whole raft of diseases. Margus says he still has hope that children born with AT in the future will have a cure. But that faith doesn't help much when it comes to his own sons.

Mr. MARGUS: Of course they're the hardest people in the world to answer to about what the researchers are doing, because they don't want to hear that another paper's being published by the researchers in a famous journal. They want to hear that there's something they can try.

PALCA: And right now there really isn't. There is one prediction made 11 years ago that has come true. When scientists found the gene they were able to determine its genetic sequence. In other words, they knew the correct spelling of the letters that make up that gene's DNA. Geneticist Francis Collins spoke at the 1995 press conference.

Dr. FRANCIS COLLINS (Director, National Human Genome Research Institute): It will be a matter of one or two years, I would predict, before we have the technical ability to take a DNA sample and quickly and inexpensively determine whether or not there's a misspelling.

PALCA: Misspellings would indicate that there was a mutation in the gene. And today there is a genetic test for mutations in the AT gene. But since AT is such a rare disease, the test has had limited impact. And the test can only tell you if the lies in your future. It can do nothing to cure it. Joe Palca, NPR News.

Copyright © 2006 NPR. All rights reserved. Visit our website terms of use and permissions pages at for further information.

NPR transcripts are created on a rush deadline by a contractor for NPR, and accuracy and availability may vary. This text may not be in its final form and may be updated or revised in the future. Please be aware that the authoritative record of NPR’s programming is the audio.



Please keep your community civil. All comments must follow the Community rules and terms of use, and will be moderated prior to posting. NPR reserves the right to use the comments we receive, in whole or in part, and to use the commenter's name and location, in any medium. See also the Terms of Use, Privacy Policy and Community FAQ.

NPR thanks our sponsors

Become an NPR sponsor

Support comes from