Classifieds Business Directory Jobs Real Estate Autos Legal Notices ePubs Subscribe Archives
Today is October 8, 2015
home news sports feature opinion fyi society obits multimedia

Front Page » November 15, 2007 » Health focus » Utah researcher's win brings hope to patients
Published 2,884 days ago

Utah researcher's win brings hope to patients

Print PageEmail PageShareGet Reprints

Cooper County, Miss. is a long way from Stockholm, Sweden. A shade more than 4,600 miles, to be precise.

But when word came from Scandinavia that University of Utah geneticist Mario Capecchi had won a share of the 2007 Nobel Prize in medicine, one of the loudest reactions could be heard in a restored 1880 plantation home northeast of Sedalia, Mo.

That's where Vicki McCarrell runs the Moebius Syndrome Foundation, a support group for families affected by the rare neurological disorder.

Moebius patients lack two cranial nerves that control facial muscles and eye movement. Stricken at birth, these patients including McCarrell's 17-year-old son, Sean spend a lifetime unable to smile, grimace, squint or otherwise express the full range of unspoken emotions conveyed by facial gestures.

Capecchi helped develop a method to manipulate mouse genes to mimic human diseases such as Moebius syndrome, cancer, cystic fibrosis and others. He shared the prize with longtime collaborators Oliver Smithies of the University of North Carolina in Chapel Hill and Martin Evans of Cardiff University in Wales.

McCarrell hopes that the international award, which was announced in early October and will be presented next month, will only increase public awareness and research support for a disorder that scientists, doctors and patients are still struggling to fully understand.

"All the doctors said, 'You'll never meet anybody else, it's too rare,''' McCarrell said, recalling her early efforts to connect with other Moebius families after Sean was born in 1990.

The support group began with a barbecue for a handful of families at her southern California home. With the rise of the Internet, the organization has since grown to 1,500 members and chapters in 12 countries.

McCarrell, a Missouri native who returned home to raise Sean near her small-town birthplace, has not only brought together Moebius families but also Capecchi and other scientists. In April, she parlayed a National Institutes of Health grant to organize the first Moebius scientific conference near NIH headquarters outside Washington, D.C.

Researchers from nine countries attended, including Elizabeth Engle, an associate professor of neurology at Harvard University. Like McCarrell, Engle said Capecchi's work has been instrumental in the long path toward unlocking the scientific riddles behind Moebius syndrome.

"It has laid a foundation for us to understand brain stem development,'' said Engle, who is also a pediatric neurologist at children's hospital Boston.

Unlike some other genetic disorders, Moebius syndrome isn't confined to certain racial, ethnic or geographic groups, said Engle, which makes it harder to track a sufficient number of cases for further study.

That makes the work of Capecchi and his colleagues all the more vital, since scientists can isolate what's known as the Hox gene cluster and intentionally introduce a genetic change in mouse embryonic stem cells.

Those cells are then injected into mouse embryos, which are bred with other mice to produce offspring known as knockout mice with the altered genes.

For Sean McCarrell, those advances in research are welcome, but only to a degree. The Pilot Grove High School junior is more concerned with everyday teenage pursuits, from his unwavering devotion to the Kansas City Chiefs and Missouri Tigers to pursuing his dreams of a career as a sports broadcaster.

He's already well on his way, not only working as a public address announcer for Pilot Grove's sports teams but also a founder of KPGS, a small AM station he and his father started with an 18-inch transmitter after state high school sports officials told him he couldn't provide play-by-play at Pilot Grove baseball games.

His social universe is the 110-student school, not the Moebius patients his mother works to bring together.

"There's no secret code we exchange,'' he said. `"We don't connect just because of Moebius. I relate to human beings because they're human beings.''

Some Moebius patients, including a childhood friend from California, have opted for "smile surgery,'' a technique in which pieces of a patient's thigh muscle are transplanted to the face, allowing the upper lip to raise when the relocated muscle contracts.

Sean wants no part of such surgery. He accepts himself unconditionally, and says his friends do the same.

"I am who I am,'' he said. ``I've never lived a life where I have been able to smile, so it's not like something was taken away.''

Print PageEmail PageShareGet Reprints

Top of Page

Health focus  
November 15, 2007
Recent Focus
Quick Links
Subscribe via RSS
Related Articles  
Related Stories

Best viewed with Firefox
Get Firefox

© Sun Advocate, 2000-2013. All rights reserved. All material found on this website, unless otherwise specified, is copyright and may not be reproduced without the explicit written permission from the publisher of the Sun Advocate.
Legal Notices & Terms of Use    Privacy Policy    Advertising Info    FAQ    Contact Us
  RSS Feeds    News on Your Site    Staff Information    Submitting Content    About Us