A genetic counselor’s wish list for epilepsy genetics in 2015

Mt. Rainier. After our recent posts about the 2014 AES in Seattle, we received an email from Beth in Boston, highlighting some of the issues that genetic counselor face in epilepsy genetics when dealing with next gen sequencing data. Beth drew up a wish list for 2015 and asked us for comments. Here is a brief discussion between Beth and me on how high throughput epilepsy genetics sometimes comes to grinding halt in clinical practice. Continue reading

The 30-10 rule of clinical exome sequencing

30/10. The impact of whole exome sequencing (WES) on clinical management of patients with neurodevelopmental disorders can increasingly be felt, and overall numbers are emerging, which document the success and impact of this technology on clinical decision making. In 30% of patients with neurodevelopmental disorders, a diagnosis can be obtained through WES, and in 10% of patients, this diagnosis significantly alters patient management. A recent publication in Annals of Neurology investigates whether this concept extends beyond the epileptic encephalopathies and also includes patients with presumed cerebral palsy, cerebellar abnormalities, and hypomyelination. Continue reading

A PhD in genomics – lessons learned

This is it! With finishing my PhD I have become an “adult” member of the scientific Graduierungcommunity. I grew out of a bachelor in biochemistry on transfection methods in neuronal cell lines, a research semester in Canberra with focus on B-cell immunology and master into a  PhD in epilepsy genomics. I was involved in the EPICURE IGE copy number projects and recently my work changed to the analysis of rare variants in RE and IGE in the EUROepinomics framework. During this time I was involved in the identification of variants in RBFOX genes and GRIN2A as well as other risk factors which are currently in review. I share my experience and thoughts and hope they help others who are about to or have just started their thesis. The aspects reflect my personal view and some are specific for graduation in disease genomics. Continue reading