Ryan Purcell

Copy number variants (CNV) result in the removal or addition of genomic material. The 22q11.2 deletion (22qDel) confers 30-fold increased risk of developing schizophrenia. The 3-megabase deletion causes the hemizygosity of dozens of genes, including nine nuclear-encoded mitochondrial genes. However, little is known regarding the mechanisms of 22qDel mitochondrial phenotypes and their contribution to human cortical development.

The two strongest genetic risk factors for schizophrenia (SCZ) are copy number variants (CNVs) at 3q29 and 22q11.2. In addition to risk for SCZ, there is substantial overlap in the phenotypic spectra associated with these two CNV syndromes. This phenotypic convergence strongly implies some degree of convergence at underlying biological levels. Currently there has been no report of a direct comparison of biological mechanisms associated with the 22q11 and 3q29 deletions.

By Ryan Purcell Last summer, Joe Faykosh spent a week in New York City collecting material for a special edition of “Visiting the Presidents.” In this podcast, the Professor of History at Central Arizona College explores the childhoods, lives, loves, careers, and deaths of various presidents by visiting the sites most touched by them, from birthplaces to graves. While Faykosh traversed the five boroughs, he invited me to tag along for a short stretch near Madison Square Park.