Scientific mistakes and the Book of Kells

Dublin. In September 2016, my way back from the ECE in Prague led through Dublin where I was able to spend two days, following an invitation by the Science Foundation Ireland. Given that there was a gap between the Prague congress and the day that I was supposed to be on-site, I arrived in Ireland early and spent 24h in Dublin. When I took a stroll into the city, I ended up in Trinity College and the exhibition about the Book of Kells, a 1200 year-old manuscript containing the Four Gospels of the New Testament. One part of the exhibition raised my interest, as it discussed the way that eighth century Irish scribes dealt with mistakes – I thought that this historical view would be an interesting introduction to review how we deal with scientific mistakes today. Continue reading

Pushing the boundary – 27 novel epilepsy genes in the 2017 DDD study

DDD. On January 25, the most recent publication of the Deciphering Developmental Disorders (DDD) study appeared online in Nature. This unprecedented study analyzed the data of 4,293 patient-parent trios with existing data from 3,287 published trios to identify de novo mutations in neurodevelopmental disorders. A study of this size has many aspects that are difficult to fully cover within the limited space of a journal article. Browsing through the data is interesting and will be the foundation for many studies utilizing this data in the near future. Within this first comprehensive blog post of 2017, I try to answer the question what this study means for the field of epilepsy genetics. For example, it provides us with more than 20 epilepsy genes that we did not know about so far. Continue reading

GABRB3 – from febrile seizures to epileptic encephalopathies

Beta-3. Even though the gene for the beta-3 subunit of the GABA-A receptor (GABRB3) has not been mentioned frequently in the context of epilepsy genes, it is a gene that is frequently involved in genetic changed that give rise to epilepsy. Given that GABRB3 is one of the genes found within copy number changes on chromosome 15, it may predispose to human epilepsies through various genetic mechanisms including copy number variations and de novo mutations. In a recent publication in Neurology, we reviewed the phenotypes of patients with GABRB3 variants and found an unusual complexity of sporadic and familial cases. Here are three things that I have learned about GABRB3. Continue reading

Year 1 of the Epi25 Collaborative – the first 6,000 epilepsy exomes

At this time one year ago, the Epi25 Collaborative, a project of unprecedented scale, got the green light to start sending DNA to the Broad Institute for sequencing. More than 200 epilepsy researchers from nearly every epilepsy genetics project in the world sent 9,000 DNA samples to the Broad Institute for exome sequencing. Epi25 hopes to illuminate the complex nature of common epilepsies, ultra-rare variants, and bring more of the de novo mutations in encephalopathies into the “causative” group. Never before has such a massive collection of epilepsy samples been assembled so swiftly, truly from around the globe, with such grand aspirations. Continue reading