About Us

We are passionate about helping find treatments for CASK gene mutations

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

CEO Laura

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 Cook – Treasurer

Liz is a chartered management accountant with around twenty years experience, including charity accounts. Liz has been fundraising for CASK since her friend’s daughter was diagnosed at nine months.

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

Rachel Manktelow – Head of fundraising

Rachel is a Trust and Grants officer and has a background in market research. 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

Sarah Sanders – Trustee

A mother of four, Sarah’s oldest daughter, Jess, has X-linked intellectual disability with nystagmus caused by a CASK mutation. Jess is one of the oldest diagnosed people in the UK.

Andrea LeForte

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

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 was diagnosed with a CASK gene mutation at four months old.

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 Frances Gibbon

Frances trained at St Andrews and Manchester before becoming a consultant in Paediatric Neurology at the Children’s Hospital for Wales in Cardiff in 1997. She is married with two daughters. Frances has first hand experience caring for children with CASK gene disorders. Her specialism is in epilepsy, having 20 years of experience working with children with epilepsy and other neurological disorders.

Our CASK partners

Angelina CASK Neurological Research Foundation (ACNRF)

ACNRF are an Australian charity that advances innovations in medical research for CASK gene mutations. They have recently set up a branch in the USA.

 

Association Enfants CASK France

AECF is a charitable association for all French children with pathogenic variants of the CASK gene.