About Us

Our team are passionate about helping find treatments for CASK gene mutations

We are a 100% volunteer led organisation which works closely with our CASK Coalition partners and scientific advisory board. Our mission is to create the best possible outcomes for people with CASK disorders. Our motto is Accelerate, Fund, Facilitate. This means that, along with creating research grants, we are also focused on helping research happen faster, efficiently and more easily.

Our Team

CEO Laura

Laura Hattersley, BSc (Hons), MSc, PGCE – Director and Chair of Trustees

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.

Liz Cook Treasurer

Liz Cook – Treasurer & Trustee

Liz is a chartered management accountant with around twenty years experience, including charity accounts. Liz has a close friend whose daughter has MICPCH and is a fantastic advocator and fundraiser.

A photo of a mum holding her blonde haired daughter

Emily Richards – Vice Chair and trustee

Emily is a civil servant and a mother of two. Her daughter, Ailla, was diagnosed with a CASK gene mutation in 2019 when she was three years old.

We have eight trustees to ensure the charity follows its constitution and is run efficiently and effectively. Four of the trustees are mothers to children with a CASK disorder. We are proud of the diversity of conditions that our parent trustees represent. You can read about all of our trustees here.

Scientific Advisory Board

Professor Kerstin Kutsche

Kerstin Kutsche

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 (Germany) before she moved 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 focus is 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 Mingshan Xue

A photograph of a man with black hair and glasses

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 Ph.D. 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 the neural circuit dysfunctions in neurodevelopmental disorders and harness this knowledge to explore new therapeutic strategies for these disorders. His research has been recognized by several awards including the Peter and Patricia Gruber International Research Award in Neuroscience, Janett Rosenberg Trubatch Career Development Award, and McKnight Scholar Award.

 

Professor James Hodge

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 or collaboration with clinicians and first started studying CASK in 2000 in Boston, USA. His pubished work on the CASK gene has been pivotal in improving understanding of this complex gene.

Dr Isabel Zwart

Dr Isabel Zwart

Isabel obtained her D.Phil 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 regulators 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. Her background allows her to assess the potential  of proposed treatments becoming viable medicines. Isabel’s niece has MICPCH.

Clinical Advisory Board

Dr Sam Amin

Dr Sam Amin

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 will use his experience as scientific advisor for the TSA (Tuberous Sclerosis Association) and CDKL5UK to help assist us as a new foundation.

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.

Dr Catherine Tuffrey

Dr Tuffrey

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. As well as her clinical consultant job, 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.