Researchers at the Department of Pediatric Pulmonology and Immunology of the Charite in Berlin are currently undertaking a study of respiratory infections in individuals with MECP2 Duplication Syndrome. These researchers hope to determine the role of MECP2 and other duplicated genes in increased vulnerability. Their research is aimed at trying to determine if an extreme inflammatory response contributes to these infections and what causes these extreme inflammatory response in many individuals with MECP2 Duplication Syndrome.
The laboratory where the study is taking place is under the direction of Horst von Bernuth
Horst von Bernuth, MD PhDDepartment of Pediatric Pulmonology and Immunology
Charité Berlin – Campus Rudolf Virchow
Augustenburger Platz 1
13353 Berlin
Germany
The lead on this study is Michael Bauer michael.bauer@charite.de. You can contact him by e-mail for more information about the study.
They have already begun to collect data and are hoping to contact families who are willing to participate which involves filling out a research questionnaire, providing blood samples, and providing skin cell samples.
The good news
It is good news that more an more well-qualified researchers are getting involved in research with potential benefits for people with MECP2 Duplication Syndrome and their families. It is also good to know that researchers are accessing funding for these studies. It is also good to remember that these studies may have important implications for medical science and life sciences that extend far beyond the direct benefits to individuals with MECP2 Duplication Syndrome. As the role of the MECP2 gene and protein are better understood, this knowledge may lead to many other scientific and medical breakthroughs.
A Note of Caution
As more researchers get involved, it is imperative that there is some coordination of research efforts. As a parent, I do not want my child subjected to any more tests than necessary. It may be in his interest to provide research samples for a study has the potential to lead to better treatment but subjecting him to multiple tests because each research team needs their own sample is unnecessary. As a researcher, I also know that coordinated efforts have the potential to produce better results. The good news is that discussions are underway to try to coordinate closely related projects in Texas, South Carolina, and Germany, through some form of data sharing. Families need to do everything possible to encourage these efforts.
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