Mary Duffy serves as the Executive Director of the Danny Did Foundation, a Chicago-based nonprofit that holds the mission to prevent deaths caused by seizures. She began her service in the epilepsy community after her dear friend lost her son, Danny Stanton, to Sudden Unexpected Death in Epilepsy, or SUDEP. Knowing that Danny’s parents were not counseled about SUDEP before his passing, Mary believes that families who face seizures deserve honest and open communication from medical providers about the various treatments and risks within epilepsy. Her work spreading SUDEP education and awareness has spanned researchers, healthcare providers, fellow advocates and device manufacturers. Among her specialties at Danny Did, she has helped thousands of caregivers and adult patients to gain seizure alerting devices. Mary is motivated by Danny and all those who have been lost too soon to epilepsy. 

Dr David Hunt is a Consultant Clinical Geneticist, based in Southampton, UK. He has been a member of the Wessex Clinical Genetics Service since 2012 and has been working as a consultant since 2016. He has an appointment as an Honorary Research Fellow at the University of Southampton.

Whilst an undergraduate in Medicine at St Bartholomew’s and the Royal London School of Medicine and Dentistry, he completed an intercalated bachelor’s degree in Biochemistry at University College London. He subsequently transferred to the MBPhD Programme at University College London and completed an intercalated PhD in Molecular Pathology. 

Dr Hunt then completed his Foundation and Core Medical Training in London, before relocating to Southampton in 2012.

He has co-authored several peer-reviewed articles about PURA syndrome, including one of the first two papers characterising PURA Syndrome in October 2014. He was also involved in organising the first PURA Syndrome Annual Conference in the summer of 2015 and he continues to work closely with the PURA Syndrome Foundation.

Robert Janowski obtained a Masters degree in Chemistry at the Adam Mickiewicz University in Poznan (Poland) as well as a Masters degree in Structural Biology at the Birkbeck College, University of London (UK). Afterwards he did his PhD in Chemistry at the Adam Mickiewicz University in Poznan (Poland). He is a staff scientist in the Institute of Structural Biology at the Helmholtz Center Munich (Germany). He is responsible for the X-ray Crystallization Platform where he investigates the three-dimensional models of the proteins and nucleic acids on the atomic level. He is particularly interested in the structural studies of human PURA, its mutants and their interactions with RNA. 

Dr. Yong-hui Jiang is Professor of Genetics, Neuroscience, and Pediatrics at Yale School of Medicine and Chief of Medical Genetics of Yale New Haven Hospital. Dr. Jiang is a physician scientist and active practicing physician at Yale Children’s Hospital and Yale Hospital.  He received his MD at Shanghai Medical College of Fudan University with highest honor in China and his PhD in Human and Molecular Genetics at Baylor College of Medicine under the mentorship of Arthur Beaudet.  He completed a residency in pediatrics and fellowship in clinical genetics and medical biochemical genetics at the Texas Children’s Hospital and Baylor College of Medicine.  He is board certified in Clinical Genetics and Medical Biochemical Genetics by American College of Medical Genetics and Genomics. His clinical interest is inborn error of metabolism and genetic evaluation of neurodevelopmental disorder and rare genetic disorders. He is Director of Yale National Organization of Rare Disease Center of Excellence for Rare Diseases. Jiang’s research program focuses on to investigate molecular and neurological bases of human neurodevelopmental and neurobehavioral disorders with focus on autism spectrum disorder (ASD), Angelman and Prader, Phelan-McDermid, PURA, TUSC3, and HIST1H1E syndromes in human and model organisms.

Peter MacDonald is a master’s candidate at the University of Toronto in the Molecular Genetics program doing research on PURA Syndrome. He works at SickKids in Dr. Jim Dowling’s lab whose research focuses on finding therapies for rare childhood muscular disorders. Peter completed his undergraduate degree in electrical engineering at the University of New Brunswick. He decided to pivot his education and pursue disease research when he was diagnosed with a genetic peripheral neuropathy, HNPP. His unorthodox background and personal motivation help him bring a new perspective to the field of disease research.

Douglas R. Nordli, Jr., MD, is a highly skilled neurologist who specializes in treating children with neurological conditions. Dr. Nordli focuses on pediatric epilepsy, with a particular interest in early onset epilepsy, and he is passionate about understanding each child’s unique condition so that he can provide targeted treatment for better results.

Along with Dr. Nordli’s clinical work, he is also actively researching methods to improve pediatric neurology care. Dr. Nordli is investigating techniques to predict and alter the course of epilepsy and examining how a novel method of classification of epilepsy can lead to better diagnosis and treatment. Dr. Nordli has been published in numerous peer-reviewed journals, such as the Journal of Pediatrics, Pediatric Neurology, Epilepsia and Epilepsy & Behavior.

Dr. Nordli is also involved in the education of medical students, residents and fellows. He mentors fellows and has developed CME courses to help guide pediatric neurology residents and fellows. Dr. Nordli has also given multiple lectures both during ground rounds and as an invited lecturer nationally and abroad. 

Dr. Vincent Pons obtained his Ph.D. in Molecular Medicine in 2021. He focused on the role of the innate immune system in Alzheimer’s Disease.

He joined The Jackson Laboratory in 2022 as a project manager in the Alzheimer’s Disease Preclinical Service. He mainly worked with neurodegenerative mouse models.

In early 2023, he joined the Rare Disease Translational Center as an Associate Study Director.