Alexandre White-Brown is a clinical and research Genetic Counsellor at the Children’s Hospital of Eastern Ontario in Canada. His research interests focus on the use of novel technologies and electronic medical records for the identification and diagnosis of rare genetic diseases. Alexandre has volunteered on the Medical Advisory Board of the DLG4-SHINE Foundation since its conception and has several years of experience providing respite care for a child with DLG4-SHINE Syndrome.

Alex MacKenzie is an attending pediatrician at the Children’s Hospital of Eastern Ontario in Ottawa, Canada and Professor of Pediatrics at University of Ottawa. Dr. MacKenzie’s laboratory conducts translational research on therapies for rare genetic diseases including SHINE syndrome.

Dr. Zeynep Tumer is a medical doctor based at the Copenhagen University Hospital – Rigshospitalet and holds a professorship at the University of Copenhagen. Her daily work includes teaching and supervising, genetic diagnostics, and research. For over 25 years, she has been working on uncovering the molecular mechanisms underlying rare neurodevelopmental disorders.

Thomas J. Dye, MD, FAASM is a child neurologist and sleep medicine specialist at Cincinnati Children's Hospital Medical Center. Clinically, he focuses on the treatment of pediatric sleep disorders, particularly in children with neurodevelopmental disorders. His research focuses on the evaluation of therapeutic options for treating sleep related movement disorders and the assessment of electrophysiologic markers of sleep and circadian disorders.

Katina Calakos is a Staff Scientist at Boston Children’s Hospital and research team member of the Simons Searchlight cohort study on rare genetic neurodevelopmental disorders. She manages the collection and distribution of Simons Searchlight clinical data for both researchers who access and analyze the data, and for participating families who receive data summaries with clinical insights. Prior to joining Simons Searchlight, she spent over a decade conducting research studies on the neuroscience of fear learning as an undergraduate, of age-related cognitive decline as a post-baccalaureate research assistant, and of substance use disorders as a graduate scientist. She earned her B.A. in Neuroscience & Behavior at Barnard College and her Ph.D. in Neuroscience at Yale University.

Sharon Tamir is an MD-PhD student at the University of Cincinnati College of Medicine and Cincinnati Children’s Hospital, where she is training to become a physician-scientist focused on pediatric neurological disorders. Sharon is currently pursuing her PhD in the lab of Dr. John Hogenesch, where her research investigates sleep and circadian rhythm disturbances in SHINE syndrome using a mouse model with a patient-derived DLG4 mutation. She has authored peer-reviewed papers on neurodevelopmental sleep disorders and has presented her work nationally, including at the 2024 Society for Research on Biological Rhythms conference.

Dr. Parul Varma is an Assistant Professor of Research at The University of Texas at San Antonio, where her work focuses on investigating neurodevelopmental disorders linked to rare genetic mutations. She is deeply committed to utilizing patient-derived stem cells differentiated into 2D/3D neuronal models, alongside molecular biology techniques and computational approaches to uncover the underlying mechanisms of these disorders and ultimately contribute to the development of therapeutic interventions in the future.

Luisa Coelho is a Research Associate at the Muotri Lab, University of California San Diego, specializing in Stem Cell Biology and brain organoid culture. With over eight years of experience in the field, Luisa has contributed extensively to the development and application of brain organoids as translational models for neurological disorders such as Alzheimer's Disease, Rett Syndrome and DLG4 Syndrome. Her master’s work focused on optimizing automated platforms for organoid culture, and she continues to push the boundaries of the field through her involvement in cutting-edge space biology research. As part of the Muotri Lab’s space initiative, Luisa is helping lead efforts to send brain organoids to the International Space Station to investigate the effects of microgravity and cosmic radiation on the human brain, with the long-term goal of harnessing the accelerated aging induced by spaceflight to improve disease modeling. Her current work explores brain organoids as a model to study DLG4 synaptopathy, advancing our understanding of synaptic dysfunction in neurodevelopmental disease.

Alysson Muotri, Ph.D., is a renowned scientist specializing in the creation of brain organoids—miniature brain-like structures developed from stem cells. His innovative work aims to accelerate the discovery of effective treatments for conditions like Alzheimer's, cancer, and autism by enabling faster and more predictive drug testing. Dr. Muotri is a Professor at UC San Diego, where he has held several leadership roles, including Director of the Gene Therapy Initiative, Director of the ISSCOR Center, and Director of the UCSD Stem Cell Program. With nearly two decades at UCSD, his interdisciplinary work bridges stem cell research, neuroscience, space biology, and anthropogeny.

Rami I. Aqeilan, PhD, is the Jacob M. Eisenberg and Thomas W. Baylek Chair for Medical Research in the Field of Genetic Engineering and a Professor of Immunology and Cancer Research at the Lautenberg Center, Hebrew University. His research focuses on the molecular mechanisms of genome stability, tumor suppression, and the roles of WWOX and related genes in cancer and neurodevelopmental disorders. His lab has made pioneering contributions to understanding WWOX-associated epileptic encephalopathies, highlighting novel therapeutic targets. Dr. Aqeilan is internationally recognized for bridging cancer biology and neurogenetics through innovative gene function and translational studies.

Gerardo Medina is a research associate at the CHEO Research Institute in Ottawa, Canada, working in Dr. Alex MacKenzie's laboratory. His research focuses on identifying and validating repurposed therapies for SHINE syndrome. His recent work investigates DHA as a potential treatment, following a screen of FDA-approved compounds to restore PSD-95 expression in DLG4-related neuronal models.

Kim Le, Ph.D. is a neurobiologist with academic training in Germany. Her research on Neurodevelopmental disorders during her PhD focused on sensory processing aspects. She is now a researcher at the BioInnovation Institute in Copenhagen at Neurophase Therapeutics.