Medical and Scientific Advisory Board
The SHINE Syndrome Foundation has been extremely fortunate to gain the support of an amazing group of researchers and clinicians around the world. Several of those individuals have also agreed to participate on our Medical and Scientific Advisory Board in hopes of helping guide us towards research funding opportunities and raising awareness for DLG4 Synaptopathy throughout the medical community. We would like to extend a special thank you to the doctors and researchers below for their help and efforts for SHINE Syndrome!
Dr. Zeynep Tümer - Copenhagen University Hospital
Dr. Tumer is a medical doctor and geneticist working with rare neurodevelopmental disorders, including SHINE Syndrome (DLG4-related synaptopathy). In 2021, a large series of individuals with DLG4 variants was published where she was the senior, corresponding author. Since then, Dr. Tümer has been working on different cellular biology projects to understand the underlying pathology of SHINE Syndrome, as this is crucial to paving the way to treatment possibilities.
Dr. Thomas Dye - Cincinnati Children's Hospital
Dr. Dye is a child neurologist and sleep medicine specialist focused on better understanding and improving the sleep and circadian health of children, especially those with neurodevelopmental disorders.
Dr. Alex Mackenzie - Children’s Hospital of Eastern Ontario
Dr. Mackenzie is an attending pediatrician at CHEO and has served as the CEO and Science Director of the CHEO Research Institute as well as Vice President of Research for both CHEO and Canada’s federal genomic research funding agency Genome Canada.
Dr. Carlos Prada - Lurie Children’s Hospital, Chicago, Illinois
Dr. Prada is a clinical geneticist very interested in partnering with families to enable better care and research related to rare diseases. He’s interested in learning more about the variability of disease manifestations in SHINE Syndrome and how this can help identify future potential therapeutic interventions.
Dr. Erick Sell - Children's Hospital of Eastern Ontario
An epileptologist from CHEO, Dr. Sell follows two patients with SHINE Syndrome. He is a pediatric neurologist working at CHEO, Ottawa since 2008. He did training in pediatric neurology and pediatric epilepsy at the Hospital for Sick Children in Toronto, Canada. His work involves predominantly looking after patients with neurodevelopmental and epileptic encephalopathies.
Alexandre White-Brown - Children’s Hospital of Eastern Ontario
Alexandre White-Brown is an MSc Genetic Counseling candidate currently working as a Clinical Neurogenetics Coordinator at the Children’s Hospital of Eastern Ontario (CHEO). He works directly with the Canadian Care4Rare Research Team focusing on the diagnosis and treatment of rare genetic disorders. Alexandre also has over 4 years of experience providing respite care for a child with SHINE Syndrome.
Dr. Leanne Ward - Children’s Hospital of Eastern Ontario
Dr. Ward is a Professor of Pediatrics at the University of Ottawa. Dr. Ward’s research program is dedicated to the study of bone development and the diagnosis and treatment of bone disorders in children due to chronic illnesses. Dr. Ward has published extensively in the field of pediatric bone disorders. In 2019, Dr. Ward was named a Fellow of the American Society of Bone and Mineral Research, a lifetime achievement award in recognition of significant contributions to bone and mineral science.
Amanda Levy - Copenhagen University Hospital
Amanda Levy is a molecular biologist and geneticist currently employed as a PhD student in Dr. Tümer’s lab. Amanda's research focuses on the genetic and functional mechanisms of rare neurodevelopmental disorders, particularly SHINE syndrome, and she has written a review on the association between neurodevelopmental disorders and PSD-95 and its interaction partners.
Kristian Stromgaard - University of Copenhagen
Kristian Strømgaard obtained an MSc degree in Chemical Research from University College London, and continued as a Ph.D. student in medicinal chemistry, part-time at the Danish pharmaceutical company H. Lundbeck. He did a postdoc at Columbia University (New York), and shortly after, he was appointed H. Lundbeck Professor at the age of 36 to establish research in Chemical Biology. He won the ‘Teacher of the Year’ award from the Faculty of Pharmaceutical Science (Univ. Cph.) in 2009. In 2012, he co-founded Avilex Pharma, where he developed inhibitors of PSD-95 (DLG4) as a novel treatment for stroke, and successfully brought the lead compound AVLX-144 through Phase 1 clinical trials. In 2014, he was appointed Director of the Center for Biopharmaceuticals, where he headed a research center on peptide and protein engineering. Recently, he was a visiting professor at Harvard Medical School (Boston) to explore medical research and innovation. In 2021 he was awarded the University of Copenhagen Innovation Award and appointed Novo Nordisk Foundation Distinguished Innovator, and has taken out >15 patents, which have led to establishing of 3 biotech companies. Dr. Strømgaard has particular experience with studies of PSD-95, where he since 2006 have worked on developing ligands that perturb PSD-95, and engaged in molecular levels studies of the structure and function of PSD-95 and interacting proteins.
