A nossa equipa

After receiving a biology degree from Durham University, and then an MSc, Laura commenced her science career by working for Elsevier, the leading scientific publishing company. Laura worked closely with editors of the Trends titles, including Trends in Neurosciences, becoming familiar with the peer review process and forming working relationships with world-leading researchers. Later, she obtained a PGCE and became a secondary school biology teacher. Her ten year career saw her teaching A level biology, specialising in genetics, biochemistry and gene technology. When Laura's first-born was diagnosed with MICPCH at 12 months old she retired from teaching in order to provide her daughter with the care she needed. She founded the charity in 2022 after identifying an unmet need to provide funds and drive translational research efforts into CASK disorders.

Dr Charles Shawcross is a retired neuropsychiatrist in Portsmouth and Hampshire. He was a Chair of the British Neuropsychiatric Association and is passionate about helping CASK Research from fundraising to being involved in the scientific road map.

Liz Cook is a busy mum to two, an accountant by trade and a volunteer for a number of charities and organisations by night. As well as advocating and fundraising with her trustee hat on, Liz also manages our accounts.

Andrea has spent her career in mainstream secondary education with experience in a wide variety of academic, pastoral and management roles.

We are honoured to have Jessica join our board of trustees. Jess is mum to the incredible and unstoppable Fiadh who lives with a CASK mutation. Originally from Canada she recently moved to Ireland with her family. Jess brings with her positivity, curiosity and a passion for helping our CASK warriors.

The overarching goal of Jill's research is to apply her two decades of training and experience with rodent model systems to design and implement effective translation strategies for discovering gene therapies for neurodevelopmental disorders. Following a PostDoc at NIMH, Jill was recruited to the faculty of the University of California Davis and MIND Institute in 2012. There she developed a research programme on rare genetic developmental disorders characterised by intellectual disability and paediatric epilepsies. Jill is also the sole basic scientist and founding member of the Alliance for Genetic Etiologies of Neurodevelopmental Disorders (AGENDA) and is an internationally recognised expert in preclinical models. She is the current elected President of the International Behavioural Neuroscience Society (IBNS) and is an Associate Editor for Molecular Autism. Her publications have been cited over 9,000 times over her career.

Dr Emma Davies has over 13 years of experience in drug discovery within both an industrial and academic setting, and specialises in the development of small-molecule therapies for rare diseases and cancer. In her current role as Associate Director of Preclinical Pharmacology at Healx, she leads a multidisciplinary team who shape Healx's rare-disease portfolio by identifying and prioritising diseases and disease areas. Emma is responsible for preclinical work spanning early discovery through to preclinical data packages supporting drug candidate progression to clinical development. Successes include Neurofibromatosis Type 1 (NF1) and Angelman Syndrome. Prior to joining Healx, Emma worked as a senior scientist in preclinical discovery oncology at AstraZeneca. She earned her PhD in cancer genetics from Cardiff University.

Dr Mingshan Xue is an Associate Professor in the Department of Neuroscience at Baylor College of Medicine and the Caroline DeLuca Scholar in the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital in Houston, Texas. He received his PhD in Neuroscience from Baylor College of Medicine and conducted postdoctoral research at University of California, San Diego. The long-term research goal of his lab is to understand neural circuit dysfunctions in neurodevelopmental disorders and harness this knowledge to explore new therapeutic strategies. His research has been recognised by several awards including the Peter and Patricia Gruber International Research Award in Neuroscience, the Janett Rosenberg Trubatch Career Development Award, and the McKnight Scholar Award.

Professor Hodge is a professor of neuroscience at Bristol University, UK. His work focuses on how neural circuit activity underlies behaviour including circadian rhythms, sleep, memory and movement. His lab uses Drosophila, electrophysiology, behaviour, pharmacology, imaging, modelling and molecular genetics. He has a history of collaboration with clinicians and first started studying CASK in 2000 in Boston, USA. His published work on the CASK gene has been pivotal in improving understanding of this complex gene.

Isabel obtained her DPhil from Imperial College London in Clinical Medicine Research, studying the potential of stem cells for aiding neural repair. She has an MSc in Neuroscience and has worked in the pharmaceutical industry on medicinal products for neurodegenerative diseases, as well as infectious disease and oncology. She has over 15 years experience in regulatory affairs and product development and is currently Director Regulatory CMC at AstraZeneca. Isabel has worked on clinical development and obtaining commercial licenses for biologics, including gene and cell therapies, and orphan products for rare diseases. Isabel's niece has MICPCH.

A consultant paediatric neurologist and head of department at University Hospitals Bristol and Weston NHS Foundation Trust, Sam leads the regional complex movement disorder service in Bristol. He is chair of the South West Paediatric Spasticity Network and also leads the national centre for CDKL5 deficiency disorder. Sam has extensive expertise in leading clinical trials and clinical registries. He uses his experience as scientific advisor for the TSA (Tuberous Sclerosis Association) and CDKL5UK to help assist us as a charity. Sam's other credentials include being the Chair of Research and an executive member of the BPNA (British Paediatric Neurology Association), an academic mentor for medical students at University of Bristol and an honorary senior research fellow at University of Bristol. Having a PhD in Clinical Neurosciences from UCL and an MSc in Stem Cell Therapy and Regenerative Medicine, Sam brings a combination of clinical expertise and academic and translational experience to our team.

Kerstin obtained her PhD from University of Bielefeld, Germany, in Bacterial Genetics. She worked as a post-doc at the University of Freiburg and the German Cancer Research Center (DKFZ) in Heidelberg before moving to the Institute of Human Genetics at the University Medical Center Hamburg-Eppendorf in Hamburg, Germany. She has over 25 years experience in human genetics. Her research focuses on identification of novel disease genes for monogenic disorders and understanding the effects of pathogenic variants on the gene itself as well as on other proteins and cellular pathways. CASK was one among several genes discovered by her team. She is a full professor and deputy director of the Institute since 2011. She has published over 140 scientific papers.

Dr Tuffrey is a Consultant Neurodisability Paediatrician working for Solent NHS Trust in Portsmouth and SE Hampshire. Her particular interests are in the care of children with complex and multiple disabilities, the care of children with epilepsy in addition to other neurodisability, adolescent development in the context of disability, and medical ethics. Following training, Catherine undertook a PhD by Newcastle University and completed a Postgraduate Certificate in Clinical Education. She is the consultant research lead for children in her NHS Trust and is passionate about involving disabled children and their families in research to improve care. She is currently the Chair of the Wessex Paediatric Neurosciences Clinical Network and has recently taken on the Chair of the British Academy of Childhood Disability.