Happy Hour Revised

The COVID-19 pandemic has changed the way we all work, but it is good to know we can still take a break to have a virtual happy hour with some of the team members in...

The Burden of Kabuki Syndrome

A manuscript co-authored by Shayna Egan, Maggie Paulich and Chris Evans reports on the significant health-related quality of life burden associated with Kabuki Syndrome.  The results were recently published: Theodore-Oklota C, Egan S, Paulich M, Evans CJ, Hartman DS,...

Development of PRO Measures in a Rare Disease

A manuscript co-authored by Shayna Egan, Ted Wells and Chris Evans documents to qualitative research conducted to develop two new PRO measures to assess symptoms and impacts in Pyruvate Kinase Deficiency.  The results were recently published: Salek S, Boscoe AN,...