Meet Our Speakers

Mel Anderson is the Director and Chair of the PURA Foundation Australia, a volunteer-led non-profit organisation supporting individuals and families across Australia and New Zealand. Her involvement is deeply personal; her daughter, Sarah, was the first Australian diagnosed in 2014.

Since then, Mel has worked to raise awareness and advance research, helping to strengthen clinical understanding while supporting foundational scientific research. Under her leadership, the PURA Foundation Australia supports clinical studies, epilepsy-focused scientific research, and improved pathways for diagnosis and treatment, while also advocating for families navigating a rare disease.

Internationally, Mel was a founding board member of the PURA Syndrome Foundation and served as Research/Scientific Liaison from 2015 to 2019, helping to establish a global research network. Through her leadership and advocacy, she continues to unite the community and drive progress toward improved outcomes.

Dr. Bettina Lorenz-Depiereux holds a degree in biology (Diploma). She received her PhD in Human Genetics from the Ludwig-Maximilians-University of Munich (LMU) in 2000. She then worked as a postdoctoral fellow at the Institute of Human Genetics, GSF National Research Centre for Environment and Health and at the Technical University of Munich (TUM). As a scientist, she was mainly involved in the identification of disease genes associated with monogenic diseases of bone and phosphate metabolism, the elucidation of corresponding mouse models and the exploration of therapeutic approaches.  

In 2020, she changed her field of interest and joined the Research Unit of Molecular Epidemiology, where she worked on various aspects of ELSI (ethical, legal, and social implications) and biobanking as part of the German Network University Medicine (NUM). This work was undertaken in the context of the ongoing COVID-19 pandemic. Since 2023 she leads her own research group, entitled “Biobanking, Data and ELSI (BDE)” at Helmholtz Munich, and is the head of the Helmholtz Munich Biobank.

Michael Hildebrand is a senior neurogenetics researcher who heads the Translational Neurogenetics Laboratory and was promoted to Professor of Medicine at The University of Melbourne in 2023 at age 42 years. His research program has driven major advances in the field of epilepsy through integrated research arms focused on solving developmental and epileptic encephalopathies, detecting mosaicism in focal epilepsies, and trialling drug therapies for vascular malformations. A major contribution has been seminal findings on the genetic mechanisms underlying hypothalamic hamartomas including discovery of novel sonic hedgehog pathway and cilia genes.

He has served as Head of Research for PURA Foundation Australia since 2025 and on the Hope for HH Foundation Medical Advisory Board since 2019. He was recipient of the Rosenfeld Rekate Pioneer Award from the Hope for HH Foundation in 2022. He has authored over 175 articles mostly in leading journals (e.g. Brain, Neurology, Am J Hum Genet), including over 69 in the last 5 years. Michael’s work has been cited over 11,000 times (Google Scholar). He has obtained over $29 million (over $14 million since 2021) in competitive research funding from different sources including his current CIA MRFF Genomics Health Futures Mission and NHMRC Ideas grants. According to Expertscape, Michael ranks in the top 0.33% of over 127,000 published epilepsy experts worldwide with h-index 58 (Google Scholar).

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.

Eva Feder Kittay is Distinguished Professor Emeritus of Philosophy and formerly Senior Fellow, Center for Medical Humanities, Compassionate Care, and Bioethics at Stony Brook University. She is the mother of a woman with PURA syndrome. She has authored and edited books, as well as written numerous articles, on feminist philosophy, care ethics and disability theory.  She is a co-winner of the APA and Phi Beta Kappa Leibowitz Award and has an Guggenheim and NEH Fellowship.  Her latest book is Learning From My Daughter: Valuing Disabled Minds and Matters of Care (Oxford University Press, 2018), which won the PROSE award from the Association of American Publishers for the best book in philosophy in 2019.

With a 30-year history in biomedical research, Professor Dr. Dierk Niessing has worked on PURA for almost 20 years. He joined the PURA community at their first international conference in 2016 (UK) and has been an active supporter since. 

Dr. Niessing 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 serves as head of the Institute of Pharmaceutical Biotechnology at 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 with the explicit goal to develop treatment strategies. 

Dr Niessing serves as scientific advisor to the PURA Syndrome Foundation (USA) and PURA Foundation Australia. He was a founding member of PURA Syndrome Deutschland (Germany) and closely interacts with the Pura Polska Foundation (Poland). His team collaborates with PURA researchers worldwide including Germany, Poland, Australia, the UK and Spain.

Professor Chris Reid is Research lead of the Epilepsy and Neurodevelopment Research Area and heads the Neurophysiology of Excitable Networks Laboratory at The Florey. He is a translational neuroscientist and leads a multidisciplinary team that investigates the molecular and cellular causes of epilepsy. Key work includes developing and characterising new genetic rodent models of epilepsy and identifying new molecular targets for treating this devastating disease. Professor Reid has strong engagement with industry and clinical partners providing a translational path. This includes past collaborations with BioCurate and CSL. He also contributes significantly to the neuroscience community acting as Director of the Australian Course in Advanced Neuroscience (2020-24) and sitting on International League Against Epilepsy (ILAE) and American Epilepsy Society (AES) Genetic Task Forces (2020-25). More recently he has been asked to join ILAE Neurobiology Commission (2025-2029) and will co-chair the ILAE Models of Epilepsy Task Force (2025-2029). His vision is to continue to drive pre-clinical programs that will create and validate therapeutic strategies targeted at genetic causes of epilepsy and other neurological disorders.

Dr. Marta Somorai is Chair of Social Pediatrics and Group Leader of the AG Rare Developmental Disorders at Technical University Munich. She leads clinical care and research on rare and ultra-rare genetic neurodevelopmental disorders, including targeted therapies and quality-of-life interventions. Dr. Somorai directs multiple centers and clinical trials in Munich and collaborates with national and international partners to advance understanding and treatment of syndromic and monogenic neurodevelopmental conditions.

Dr. Miya St John is a speech pathologist and post-doctoral research fellow at the Murdoch Children’s Research Institute in Prof Angela Morgan’s lab. She has a background in linguistics, speech pathology, genetics, and neurodevelopmental conditions. She has experience working as a speech pathologist both clinically and in research over the past 10 years. Miya’s primary research interests include understanding the speech and language profiles of individuals living with rare genetic conditions, with a particular interest in chromatin-related disorders. She aims to understand the best treatment strategies for children with complex genetic conditions and speech disorders and how we can use speech measures in future clinical trials. Miya is also an Honorary Lecturer of Speech Pathology for the University of Melbourne, teaching into early communication development, motor speech disorders, and linguistics.

Fabienne Theler, MSc PT, is an internationally recognised physiotherapist, co-founder of Apexa QLA Suisse and creator of the proprietary O.R.C.A. (Objective Reasoning & Clinical Architecture) method. Together with her team, she is shaping therapeutic care through a distinctive combination of clinical expertise, innovation and therapy design.

A clinical architect and thought leader, Fabienne is known for setting precise benchmarks in quality and outcomes. Educated at King’s College London and shaped by international clinical experience across Europe and Asia, her work is grounded in innovation-led and outcome-driven approaches that bring clarity, structure and measurable impact to therapy.

Originally from the Valais region of Switzerland, she brings both precision and perspective to her work. From her centre on the shores of Lake Zug, she and her team design therapy architectures that integrate movement, sensory systems and everyday function into a cohesive whole.

Apexa QLA Suisse is defined by its collaborative culture. Through the O.R.C.A. (Objective Reasoning & Clinical Architecture) method, her team engages with specialists worldwide, encouraging exchange, refinement and shared progress in therapeutic practice.

Through her Academy (Start Q4 2026), Fabienne is shaping the standards and mindset of the next generation of therapists—guided by clarity, ambition and a commitment to excellence.  Looking ahead, she is extending her work into therapeutic software and evolving clinical models, contributing to the continued development of modern therapy. She is known for her openness and ease of connection—valuing meaningful relationships with families, professionals and partners alike.

Stephen is a very experienced British theatre and opera director who has worked with many household names, in theatres across Britain and elsewhere.  He is also the father of a young man with severe intellectual disabilities and is a leading campaigner for the rights and dignities of people with intellectual disabilities.  He has written and staged two plays about the challenges get faced by disabled children and their families and in 2025 wrote BEAUTIFUL LIVES: HOW WE GOT LEARNING DISABILITIES SO WRONG, a much hailed study of history and culture.

Jean Weinberg began her career at CNN and has spanned various roles in communications from politics to public health. Prior to joining Bloomberg Philanthropies, she served as Chief Communications Officer for the New York City Housing Authority. In this role, she oversaw all resident, employee, and external communications. Ms. Weinberg previously served as Director of Public Affairs for the New York City Department of Health. During her tenure at the Health Department, she led the City’s media response for several major events including Hurricane Sandy, the City’s first Ebola case, and multiple Hepatitis A outbreaks. Before joining the Health Department, she worked in corporate communications for General Electric (GE). Prior to GE, Ms. Weinberg served in the Obama Administration as Press Secretary for the White House Office of Management and Budget. Earlier, Ms. Weinberg worked on Obama’s 2008 Presidential Campaign as the Regional Press Secretary in Missouri.

Ms. Weinberg earned a Bachelor of Arts degree in Government from Georgetown University.