STX. We typically don’t blog about preprints, but we are making an exception this time given the upcoming STXBP1 Summit in Philadelphia on August 19-20. This is a post about one of our projects on STXBP1 that tries to understand the clinical presentation holistically, trying to find a way to capture the lived experience of families with STXBP1. In our current manuscript that will be presented at the STXBP1 Summit, we introduce our disease concept model for STXBP1. Disease concept models are formal frameworks that are increasingly required by regulatory agencies such as the FDA. Here is a brief overview what we find when we conduct formal interviews with families how a disease concept model helps us define phenotypes. Continue reading
Tag Archives: Outcomes
Phenotypic atomism – understanding outcomes by rethinking clinical information
Natural History. Over the last few years, there has been a renewed interest in outcomes and natural history studies in genetic epilepsies. If one of the main goals of epilepsy genetics is to improve the lives of individuals with epilepsy by identifying and targeting underlying genetic etiologies, it is critically important to have a clear idea of how we define and measure the symptoms and outcomes that characterize each disorder over a lifetime. However, our detection of underlying genomic alterations far outpaces what we know about clinical features in most conditions – outcomes such as seizure remission or presence of intellectual disability are not easily accessible for large groups of individuals with rare diseases. In this blog post, I try to address the phenotypic bottleneck from a slightly different angle, focusing on how we think about phenotypes in the first place. Continue reading