Author name: tbrsadm

Katherine McMahon was a founding board member of The Tatton Brown Rahman Syndrome Community. She followed the stories of each person affected by TBRS like they were her own family. She cheered our accomplishments and cried with us during difficult times. She traveled all the way to England for the first TBRS gathering in 2016 at The Child Growth Foundation Convention, attended the TBRS Community Conference in 2018 in New York, USA, and made time for every other event and fundraiser. Along with her support, she brought her laugh and upbeat energy, which were contagious. Kathy was taken from us by cancer on September 13, 2019, the day after her 55th birthday, and this award was established in 2020 as a way for the TBRS Community to keep Kathy’s spirit alive.

The winner of this year’s Katherine McMahon Memorial Award is Dr. Harrison Gabel. He embodies Kathy’s drive to constantly think of others, her passion for easing suffering and spreading light and happiness, and foundational qualities of compassion and selflessness. Dr. Gabel displays these qualities in a different way to Kathy. He is a researcher who consistently goes above and beyond his academic duties to support the TBRS Community and propel people with TBRS ever closer to science-based treatments.

Dr. Gabel has:

● published no fewer than three research papers on TBRS
● recruited at least six labs from various disciplines to collaborate on their own TBRS research, an enormous expansion of the TBRS research network
● successfully advocated for DNMT3A to be included in the Brain Gene Registry
● shared resources developed in his lab with other scientists
● traveled to the Chan Zuckerberg Initiative’s Rare As One meeting in 2022 to present research findings on behalf of the TBRS Community
● presented at every TBRS Family and Collaborative Research Network meeting
● attended and participated in every TBRS Research Roundtable and Scientific Advisory Committee meeting
● volunteered for numerous initiatives of the TBRS Community, including reviewing grant proposals and serving on the hiring committee for a Research Coordinator
● established and helped characterize mouse models of TBRS

In short, Dr. Gabel has shown that solving the scientific mystery of TBRS is about more than publishing papers or securing research funding—although he’s done both successfully. Rather, he has demonstrated a true passion for helping ease the suffering and anxiety of TBRS patients and their families by helping us all understand and confront the underlying realities of the syndrome. On a daily basis, Dr. Gabel exhibits the humanity and generosity that make him more than a researcher studying TBRS. They make him a true ally and friend to our community. And he would no doubt make Kathy proud.