CASK gene mutation | About Cask Research Foundation

We are passionate about helping find treatments for CASK gene mutations

We are a 100% volunteer led organisation which works closely with our partners Angelina CASK Neurological Research Foundation and Association Enfants CASK France. Our mission is to create the best possible outcomes for people with CASK gene related disorders. Our motto is Accelerate, Fund, Facilitate, meaning that, along with creating research grants, we are also focused on helping research happen faster, efficiently and easier.

Our inspiration

Sarah was born with a thick head of hair and the most beautiful big blue eyes. During her first months she developed microcephaly and was quickly diagnosed with a disease called pontocerebellar hypoplasia (PCH). PCH is a severe neurological condition that is often degenerative. She failed to meet any milestones and at one year of age the cause of her PCH was determined – a deletion on her CASK gene. Shortly after, she developed infantile spasms. Any signs of development vanished as she fought this rare form of epilepsy for twelve months before a medication was found that controlled it. Even though she is still unable to sit unaided, cannot walk or talk, cannot hold a toy and her epilepsy has returned, her laughter and beauty brings incredible joy to anyone who is lucky enough to meet her. Due to the combined effects of being unable to communicate and the pain caused by symptoms of her CASK gene mutation, Sarah is often distressed. This urge to relieve her suffering is what inspired mum Laura to create CASK Research Foundation. Knowing there are scientists out there that want to help children like Sarah, but are prevented due to a lack of funding, is what drives Laura and the other trustees.

Our Team

Laura Hattersley – Director

After receiving a zoology degree from Durham University, and then an MSc, Laura commenced her science career by working for a leading scientific publishing company in London. Later she obtained a PGCE and became a secondary school biology teacher. When Laura’s first born was diagnosed with a CASK gene mutation at 12 months old she retired from teaching in order to provide her daughter with the care she needed.

Liz Cook – Treasurer

Liz is a chartered management accountant with around twenty years experience, including charity accounts.

Nicole Poole – Secretary

Nicole is a policy adviser for an independent professional body and has over ten years experience with policy and professional regulation.

Rachel Manktelow – Head of fundraising

Rachel has a background in market research and Trusts and Grants. Rachel’s niece, Sarah, suffers from a CASK gene mutation.

Emily Richards – 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.

Sarah Sanders – Trustee

A mother of four, Sarah’s oldest daughter, Jess, has X-linked intellectual disability with nystagmus caused by a CASK mutation.

Andrea LeForte – Trustee

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

Melissa Gerlach – Press Relations

Melissa is a PR and Journalism graduate from the University of Arts, London. British born she lives in Germany. Her four year old daughter has a CASK gene mutation.

Scientific Advisory Board

Professor 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 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 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.