One of my research area is the diagnosis of rare genetic conditions and in that context I collaborate with David Kelsell at Queen Mary University of London. One of the interesting cases we have analysed recently is an extremely rare condition in which the patients suffer severe chronic skin and bowel inflammation. I was in charge of the analysis of the sequence data, so for readers interested in the technical aspects here is a short overview: this was a sequencing project of pooled DNA (from three samples, only one of them relevant to this study), using a capture array to enrich for regions of the genome showing evidence of being linked to the disease. I first came across a 4 bp deletion in the ADAM17 gene, and it was rapidly identified by David Kelsell and his team as a likely cause of the disorder. Further functional work confirmed that this variant is almost certainly the disease-causing mutation.
This study was published last year and an interesting aspect is that the individual in whom this mutation was first seen is now 19 years old, doing well, and entering his second year at the University of Cambridge. Daniel MacArthur and myself met with him to discuss his thoughts and feelings about the whole experience. Continue reading ‘A personal view of genetic diagnosis using modern DNA sequencing technologies’