Individuals with Moebius syndrome are born without the ability to smile
October 9, 2007 - The Moebius Syndrome Foundation congratulates the winners of the 2007 Nobel Prize in medicine; Dr. Mario Capecchi of the University of Utah in Salt Lake City, Dr. Oliver Smithies of the University of North Carolina in Chapel Hill and Sir Martin J. Evans of Cardiff University in Wales. Their technological innovations in creating knockout mice are enabling new research into the origins and development of Moebius syndrome, a rare, congenital neurological disorder leaving those with the condition unable to move their faces or move their eyes laterally (they can't smile, frown, suck, grimace or blink).
Vicki McCarrell, the President of the Moebius Syndrome Foundation remarked, "It is wonderful to see this groundbreaking technology recognized with a Nobel Prize. The progress being made in understanding the origins and development of Moebius syndrome would not be possible without these discoveries."
Dr. Capecchi created the breakthrough technique of gene targeting to genetically dissect the functions of the mouse Hox gene cluster, and his seminal work has already had significant impact on Moebius syndrome research. The Hox genes function as master control switches within the mouse and mediate the formation of the body plan. Because of the similarities between the genetic structure of mice and humans, great progress can be made in understanding human disorders by studying knockout mice.
Moebius Syndrome is characterized by the abnormal formation of the human body pattern, and individuals with Moebius syndrome have complete or partial agenesis of the 6th and 7th cranial nerves, leaving them unable to move their faces or move their eyes laterally. Other cranial nerves may be affected causing hand/feet anomalies, respiratory problems, speech problems, sensory issues and weak upper body strength. Approximately 30-40% of children with Moebius syndrome have symptoms of the autism spectrum.
Dr. Capecchi's findings are enabling researchers such as Ethylin Wang Jabs, MD, of the Johns Hopkins University School of Medicine and Elizabeth Engle, MD, of Children's Hospital Boston and Harvard University to better understand the pathogenesis of Moebius syndrome.
For example, Dr. Capecchi's group found that mice that lack the function of HOXB1 and HOXA1 genes that resemble features found in Moebius syndrome. This finding contributed substantially to the ability of Dr. Engle's group to identify HOXA1 mutations in patients with a Moebius syndrome phenotype, defined by agenesis of the 6th and 7th cranial nerves, hearing loss, developmental delay, autism, and vascular malformations.
Researchers are now routinely implementing Dr. Capecchi's technology to study additional Hox genes, as well as other Moebius candidate genes in mouse models. Dr Jabs' group is screening Moebius syndrome patients for mutations in two other Hox genes, HOXB1 and HOXB2 which cause facial nerve abnormalities in mice lacking these genes.
The Moebius Syndrome Foundation is a 501(c) (3) organization staffed entirely by volunteers and is based in Pilot Grove, MO. The mission of the Moebius Syndrome Foundation is to provide information and support to individuals with Moebius syndrome and their families, promote greater awareness and understanding of Moebius syndrome, and to advocate for scientific research to advance the diagnosis and treatment of Moebius syndrome and its associated conditions.
http://www.moebiussyndrome.com
Contact information for this press release:
Moebius Syndrome Foundation
Vicki McCarrell, President
vickimc@iland.net
(660) 834-3406
Elizabeth Engle, MD
Children's Hospital Boston and Harvard University
elizabeth.engle@childrens.harvard.edu
Ethylin Wang Jabs, MD
Johns Hopkins University School of Medicine
