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. 

Matt Guille grew up on the tiny island of Guernsey before obtaining his degree and PhD in Biochemistry at King’s College London. After 3 years of postdoctoral work in cell culture at what is now the Crick Institute Matt returned to working on gene regulation in the frog Xenopus, his PhD subject. At the University of London’s Developmental Biology Research Centre he was part of the team that discovered how Gata transcription factors control cardiovascular system formation. Matt then established his own lab, continuing these studies at Portsmouth on the South Coast of England until he was asked by the Xenopus research community to create a resource centre for genetics in the model. Work on this began in 2006 and the EXRC is now the largest centre for such studies, with visitors coming to train and do experiments from all over the world. With the advent of gene editing, which works extremely well in the frog, Matt sought collaborations with clinical geneticists to test whether the frog could be a useful tool to help them diagnose and understand rare genetic diseases. Among the diseases he and his colleagues have discovered and/or investigated with Sarah Ennis and Diana Baralle at Southampton is PURA. In his spare time Matt coaches on Britain’s Olympic rifle pathway.

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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. 

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.