The era of gene retirement. As of 2015, the list of epilepsy genes has shrunk by one. EFHC1, a gene initially proposed to be a monogenic cause of Juvenile Myoclonic Epilepsy, is no longer an epilepsy gene. A recent study in Epilepsia finds that EFHC1 variants initially thought to be pathogenic are found in unaffected controls of the same ancestry. Follow us on one of the most perplexing journeys that modern day neurogenetics has to offer, and the retirement of the first epilepsy gene. Continue reading
Tag Archives: ME2
Popper, Kuhn, and the paradigm shifts of the genomic revolution
Paradigm shifts no more. During our bioinformatics workshop in Leuven, Roland pointed out that I tend to use the phrase “paradigm shift” too liberally. In fact, the concept of paradigm changes in science was made popular by Thomas Kuhn, an American physicist, historian, and philosopher of science. Kuhn believed that scientists work within a given set of paradigms and believes that they don’t really question them – until everything falls apart. Let me take you on a brief journey through the philosophy of genomics starting with Kuhn’s nemesis, Karl Popper. Continue reading
