the AJMG SEQUENCE
Opitz award paper describes Marshall-Smith syndrome
Version of Record online: 21 SEP 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 10, page x, October 2011
How to Cite
(2011), Opitz award paper describes Marshall-Smith syndrome. Am. J. Med. Genet., 155: x. doi: 10.1002/ajmg.a.34322
- Issue online: 20 SEP 2011
- Version of Record online: 21 SEP 2011
Reseacher used Internet to collect patient data
Good luck and clever use of the Internet helped Adam Shaw, MD, win AJMG's 2011 John M. Opitz Young Investigator Award.
The annual award honors Dr. Opitz as the journal's founding Editor-in-Chief and recognizes work, published in AJMG in the past year, by a researcher who has completed doctoral training within the past 10 years or is younger than 40.
Dr. Shaw's paper [Malan et al., 2010] describes his use of a wild, a text-based data repository that can be accessed through a web browser, to further delineate Marshall-Smith syndrome (MSS). With fewer that 50 reported cases, MSS is a rare and severe syndrome involving developmental delay, limited speech, distinct facial features, short stature, and often fatal respiratory problems.
While working at London's Institute of Child Health, Dr. Shaw saw two patients with MSS in the space of only a few weeks. Since most geneticists see only one case during their careers, Dr. Shaw's mentor advised him to take advantage of such luck, Dr. Shaw recalls. He is now Consultant in Clinical Genetics at Guy's and St. Thomas' Hospitals in London.
Unable to find much information about MSS on the Internet, one patient's father started an MSS family and patient support group. Through the support group, Dr. Shaw located 10 new MSS patients. But because Dr. Shaw didn't know the clinicians caring for most of these patients, and they were located in different time zones across the globe, he decided to use a wiki to find more patients and collect data. Ultimately, he was able to describe the cases of 19 patients, a large group for such a rare disease, gain insight into MSS's natural history, and make suggestions for its management.
“The wiki is usable for other conditions,” says Shaw.“With Marshall-Smith syndrome, there's still much to do.”
Dr. Shaw was part of a team that later identified the NSIX the gene as responsible for MSS [Malan et al., 2010]. He is now focused on finding the underlying pathology of the disorder and optimal treatments.
Shaw says he is happy to be honored with an award bearing Dr. Opitz's name: “He's defined so many diseases and published hundreds of papers. His achievements give me the encouragement to keep going.”