These are just a few of the Global Research Network of scientists and doctors invested in advancing the research on PURA Syndrome. We are so grateful for their dedication to our PURA families.
Prof. Diana Baralle
Diana Baralle holds a prestigious NIHR Research Professorship in Genomic Medicine, a personal chair at the University of Southampton and is a Consultant in Clinical Genetics, working at the interface of research and clinical service.
During her undergraduate training in Medicine at University College London, she completed an intercalated Degree in Human Genetics and subsequently trained first in Paediatrics and then Clinical Genetics.
She completed her doctorate and Action Medical Research Training Fellowship in the Department of Pathology, Cambridge University where she held an academic position before her current appointment in Southampton.
Prof. Baralle continues to see patients in clinic and runs a translational research group that drives forward functional genomics to improve diagnosis. She investigates novel causes for rare disorders and in particular the role of RNA and splicing in genetic disease. She was the senior investigator on one of the two first papers in 2014 describing PURA syndrome in the Journal of Medical Genetics and has worked on PURA research since.
Prof. Matthew Guille
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.
Dr. David Hunt
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.
Dr. Dierk Niessing
Professor Dr. Dierk Niessing has over 25 years of experience in biomedical research and currently serves as research liaison to the PURA Syndrome Foundation. He studied Biology and did his PhD at the Max-Planck-Institute for Biophysical Chemistry (Germany). After research visits at The Rockefeller University (New York City) and SGX Pharmaceuticals INC (San Diego), he became a research group leader at the Helmholtz Zentrum München. Since 2017 he also serves as head of the Institute of Pharmaceutical Biotechnology at the Ulm University (Germany). Both labs, in Munich and Ulm, use structural, biochemical and stem cell-based approaches to understand the molecular underpinnings of the PURA Syndrome.
Dr. Bettina Schmid
Dr. Schmid is a research group leader and head of the Zebrafish Core Unit at the German Center for Neurodegenerative Diseases in Munich, Germany. She has a long-standing interest in using zebrafish genetics to generate disease models of neurodegeneration and to understand the physiological function of disease-associated proteins. As a trained developmental biologist and geneticist, she was one of the first to employ the CRISPR/Cas9 genome editing system in zebrafish to generate disease models. Her research includes the characterization of the physiological function of PURA, Alzheimer, Amotrophic Lateral Sclerosis and Frontotemporal Dementia zebrafish models.
By understanding the molecular pathways that are impaired in disease models we hope to identify specific drug targets for patients.
She has organized several national and international meetings focused on the pathophysiology, diagnosis and treatment of epilepsies. He is currently Co-Chairman of the Epilepsy Scientific Panel of the European Academy of Neurology and he is member of the ILAE Task Force on Transition in Care from Childhood to Adult. He is tutor and teacher at the Virtual Epilepsy Academy of the ILAE and member of the EpiCARE, European Reference Network.