The White Sutton Syndrome Foundation has partnered with several medical professionals to help move forward understanding about the POGZ gene that causes WHSUS. These doctors also comprise our medical advisory board and provide expertise and guidance to the foundation as it pursues its goals. It is our hope that through these partnerships we can help further knowledge, spur more research and (in the long-term) drive innovation into potential treatments. If you want to help, you can donate using the form on this page, enroll in our patient registry as well as in Simons Searchlight, who is helping enable Dr. Markenscoff-Papadimitriou’s work.

Reid Sutton is a clinical geneticist and clinical biochemical geneticist at Baylor College of Medicine & Texas Children’s Hospital in Houston. He grew up in Kentucky and attended Transylvania University and the University of Kentucky College of Medicine. He completed a residency in Pediatrics at Washington University/St. Louis Children’s Hospital and went on to complete training in Medical Genetics and Clinical Biochemical Genetics at Baylor College of Medicine in Houston. Dr. Sutton has authored over 100 peer-reviewed publications as well as many invited book chapters and has been an invited speaker around the world. He directs the residency and fellowship programs in Genetics at Baylor College of Medicine. He is a past Chair of the American Board of Medical Genetics and Genomics and has been elected to many other leadership positions in Genetics. In his role as a clinical researcher with the Baylor-Johns Hopkins Center for Mendelian Genomics, he worked with graduate student Janson White on a number of projects, including the description of the spectrum of developmental and health issues in individuals with variants in the POGZ gene, that the Online Mendelian Inheritance in Man (OMIM) has designated “White-Sutton Syndrome” (OMIM# 616364; http://omim.org/entry/616364).

Eirene Markenscoff-Papadimitriou is a neuroscientist in the Department of Molecular Biology and Genetics at Cornell University in Ithaca, NY. She received her BA from Harvard College and her PhD from the University of California, San Francisco (UCSF). During her postdoctoral training in the Department of Psychiatry at UCSF she began to study the molecular functions of POGZ in brain development. Her lab at Cornell University uses mouse models and human iPSC-derived neurons to understand the function of autism-linked mutations in POGZ and how they affect neuronal development and function.

Alexandre Orthwein, is a cancer biologist in the Department of Radiation Oncology at Emory School of Medicine in Atlanta, GA. He received his B.Sc. from Louis Pasteur University (Strasbourg, France) before completing a PhD in immunology from the University of Montreal (Montreal, Canada). During his postdoctoral training at the Lunenfeld-Tanenbaum Research Institute (Toronto, Canada), he became deeply interested in the regulation of DNA repair pathways and the critical contribution of the zinc protein POGZ in this process.
Dr. Orthwein’s laboratory currently focuses on the complex role of POGZ in both neurological disorders and cancer biology. His research aims to elucidate the molecular mechanisms of POGZ, with the ultimate goal of identifying therapeutic targets for cancer and improving clinical outcomes for patients diagnosed with the White-Sutton syndrome.

Sagiv Shifman is a Professor at the Department of Genetics, The Hebrew University of Jerusalem, Israel. His laboratory utilizes a variety of molecular and cellular techniques, mouse models, and computational tools to study neurodevelopmental disorders (NDDs). He is particularly interested in identifying shared molecular mechanisms in autism spectrum disorders (ASD) by integrating genetics, human brain transcriptome, and functional genomics. Currently, the main focus in his lab is studying the contribution of chromatin regulators and genes intolerant to mutations to neuronal differentiation and NDDs.