Dr. Charlotte Ockeloen
Dr. Charlotte Ockeloen
Dr. Charlotte Ockeloen obtained her medical degree at the University Medical Center of Groningen, the Netherlands in 2006. She finished her training in clinical genetics at the Radboud University Medical Center, Nijmegen, the Netherlands in 2014 and is currently working at the Radboud UMC as a senior clinical geneticist.
Her scientific interest started during her medical doctorate at the Charité University Hospital in Berlin in 2009. During her training in clinical genetics she developed a special interest in craniofacial disorders and genetic (neurodevelopmental) syndromes, especially KBG syndrome. She is the coordinator of the KBG syndrome outpatient clinic in the Radboudumc expertise center for neurodevelopmental disorders, the national tertiary referral center for KBG syndrome. Ever since her first publication about 20 patients with KBG syndrome in 2014, she has continued her research on various aspects of KBG syndrome. Her aim is to help patients and families as much as possible, by providing them with useful, evidence-based information and improving patient management, through international collaborations.
In addition, she is a registered clinical pharmacologist since 2022, focusing on the development of treatments for rare genetic diseases.
Dr. Anastassia Voronova, PH.D.
Assistant Professor Department of Medical Genetics University of Alberta
Dr. Anastassia Voronova obtained her Ph.D. degree from the University of Ottawa, where she studied the regulation of embryonic stem cells. During her postdoctoral fellowship at the Hospital for Sick Children in the laboratory of Drs. Freda Miller and David Kaplan, she made seminal discoveries on how microenvironment and KBG syndrome risk gene Ankrd11 control neural stem cell biology.
Dr. Voronova’s independent research program at the University of Alberta focuses on the role of Ankrd11 in brain development and engagement of resident neural stem cells for brain regeneration. She holds a Canada Research Chair in neural stem cell biology, and was awarded the 2023 Sloan Research Fellowship in Neuroscience and the 2022 outstanding young investigator Jordi Folch-Pi award by the American Society for Neurochemistry.
Dr. Benjamin Rubin M.D.
Dr. Benjamin Rubin M.D.
Dr. Orrin Devinsky M.D., Ph.D
Professor of Neurology, Neurosurgery, and Psychiatry, NYU School of Medicine
Orrin Devinsky is Professor of Neurology, Neuroscience, Neurosurgery, and Psychiatry at the NYU Grossman School of Medicine, where he directs the Epilepsy Center. His epilepsy research includes genetics, sudden death (SUDEP), cannabidiol, autism, healthful behavioral changes, therapeutic electrical stimulation, quality-of-life, cognitive and behavioral issues, and surgery. He is the Principal Investigator for the North American SUDEP Registry and for the SUDC Registry and Research Collaborative. He is on the Executive Committee of the SUDEP Institute and Scientific Advisory Boards of the Epilepsy Foundation, Dup15q Alliance, Tuberous Sclerosis Alliance, KCNQ2 Cure Alliance Foundation, International FOXG1 Foundation, KBG Foundation, DHPS Foundation, and Chairs the Loulou Foundation CDKL5 Program of Excellence. He has served as the lead investigator for multiple pivotal FDA trials leading to approval of antiseizure medications. He founded Finding A Cure for Epilepsy and Seizures (FACES) and co-founded the Epilepsy Therapy Project and epilepsy.com. Outside interests include behavioral neurology, evolutionary biology and history of neuroscience.
Dr. Karen Low, MBChB, BSc(Hons), MRCPCH
Consultant Clinical Geneticist
Karen is a Consultant Clinical Geneticist in the UK and is committed to looking after patients and their families with rare diseases. Karen became interested in KBG syndrome whilst training in clinical genetics and spending time researching a large group of patients with KBG Syndrome, many of whom were diagnosed through the DDD study. Karen is committed to long term clinical research in this condition and hopes that an international approach will help provide helpful information to patients and families.
Dr. Tazeen Ashraf, MBBS, BMEDSCI(Hons), MRCPCH
Specialist Registrar in Clinical Genetics Guys and St Thomas’s NHS Foundation trust
Tazeen trained in Paediatric medicine and Clinical Genetics in London. She currently works at Guys and St Thomas’s NHS foundation trust. She met a patient with KBG syndrome early on in her training and this sparked the desire to learn more about the condition. She has a complementary analysis project through the DDD study in the UK to further research patients with KBG syndrome. She continues to work in rare disease and regularly collaborates with clinicians to better understand the condition. Tazeen feels that patient engagement is the key to making scientific and clinical research accessible and practical for families. She and Dr Karen Low arranged the first KBG syndrome family day in the UK which was a huge success!