Mann J.: hepatobiliary disease

Dr Jake Mann, of the Children’s Hospital of Birmingham and the University of Birmingham is our guest today – Dr Mann’s second contribution to these podcasts. At the annual meeting of ESPGHAN in Vienna this May Dr Mann presented information on the potential relevance of genetic variants “of unknown significance”, the sort of thing that often is uncovered in exomic or genomic studies of children with hepatobiliary disease; one can’t pin the hepatobiliary disease on those variants, not exactly, but what is one to do with them? – to abnormalities in biomarker values assessed in adults. Indeed such variants and such abnormalities co-map, suggesting rôles for the variants as loci minoris resistentiae that may confer adverse prognoses. Worth our attention, although neither easy reading nor easy listening : As Mark Twain famously had Huckleberry Finn say of The Pilgrim’s Progress, “The statements was interesting, but tough.” But who can better explicate Dr Mann’s statements, which indeed are both interesting and tough, than Jake himself, despite all the impedimenta that Alex tries to cast in his way?