The meeting of the 1000 exomes

1000 exomes. The EuroEPINOMICS consortium will host its first data analysis meeting at the Luxembourg Centre for System Biomedicine from July 5th to July 7th, 2012, to discuss the results from the high-throughput genomic platforms in the CoGIE, RES, EpiGENet and Epiglia consortia. We will present the first results of the four EuroEPINOMICS programs generated by high-throughput genomic technologies and discuss the overall direction of genetic analysis for the next years, which should soon encompass the proverbial 1000 exomes. In preparation, let’s revisit high-throughput epilepsy genomics. Continue reading

Gene birth in yeast and human

The completion of the human genome came with few surprises it seems in retrospect. One was the observation that the human genome apparently had much fewer genes than  expected. I never understood the fuss that was made about the total gene number, as referring to an absolute number of genes is a gross simplification of the facts. How many genes we have is highly dependent on what we call a gene and how we identify them in the human genome. When talking about the total number of genes, how can you leave out all the problems of probabilistic algorithms for gene identification and the difficulties of proving gene expression and coding potential experimentally? Continue reading

What’s the Frequency, Kenneth? The story of LGI1

Can’t you hear the radio?  “S.W. was spending an afternoon at this girlfriend’s house when he suddenly heard a radio sound in his right ear.  He asked his girlfriend whether she was aware of this sound as well, but he could not understand her answer. S.W. then lost consciousness and convulsed. He presented with a second seizure several months later. S.W. was started on carbamazepine and remained seizure-free. Interestingly, his mother had seizures starting at the same age. Furthermore, his sister had her first seizure at the age of 8 years and frequently reported auras where she would see colourful pictures and hear noises like a familiar song. These episodes sometimes occurred seconds before she had a generalised tonic-clonic seizure.”

LG-what?  This impressive case report taken from Steven Waxman’s Molecular Neurology illustrates a family with lateral temporal lobe epilepsy (LTLE), a rare form of seizure disorder in which auditory features often precede a generalized tonic-clonic seizure. Auditory or acoustic features including radio sounds, machine noises or more complex acoustic phenomena arise from the lateral temporal lobe, a part of the brain important for auditory processing. During a discussion with one of our students last week, I realised that even though we frequently write about microdeletions and novel gene findings on the EuroEPINOMICS blog, some of the classics of epilepsy genetics may sometimes be revisited as well. LTLE is the premier example that genetic epilepsies are not neccesarily due to ion channels. Continue reading