International course on water and water management in the Philippines 2011

Since 2011, the Faculty of Social Sciences (FSW) and the Institute of Environmental Sciences (CML) of Leiden University, in cooperation with Isabela State University and the Mabuwaya Foundation in the Philippines organize an annual month–long international, interdisciplinary field course on sustainable development, water issues and water management in the Cagayan River basin and Sierra Madre Mountains in Northeast Luzon in the Philippines. Thirty students usually participate in this course, 15 through Leiden University and 15 through Isabela State University. The students are enrolled in different studies, encompassing social, natural and applied sciences. The annual report contains background information about that year’s course, all student reports and the online blog that the students maintained during the course.bookGlobal Challenges (FSW)Environmental Biolog

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern