The sequester and biomedical research – lessons for Europe

Transatlantic. The so-called sequester, automatic spending cuts across the board- have gone into effect in the US and also impact on the level of public funding for biomedical research. In a recent commentary in JAMA, Ezekiel Emmanuel comments on the decline of support for the NIH, which he believes goes far beyond the results of the spending cuts and can be traced back to four main factors. In this post, we would like to discuss to what extent his four main arguments also apply to the European scientific community. Continue reading

De novo mutations in Infantile Spasms and Lennox-Gastaut Syndrome

Quantum leap. At the Annual Meeting of the American Epilepsy Society, the Epi4K consortium presented the first data on exome sequencing in epileptic encephalopathies. This data is the most exciting finding in the field of epilepsy genetics in 2012 so far, as it provides a deep insight into the genetic architecture of Infantile Spasms (IS) and Lennox-Gastaut Syndrome (LGS). With the findings presented by the Epi4K collaborators, the epileptic encephalopathies are joining a group of neurodevelopmental disorders with a significant burden of de novo mutations.  However, there are important differences that set both IS and LGS apart from diseases like autism, intellectual disability and schizophrenia. Continue reading