History of Lafora Research

How it Started: Research into the Lafora Gene

Lafora is the most severe form of teenage epilepsy and is very uncommon, with only a handful of children affected around the world. Read about one Jersey teenager, John Sharp, or find out about ongoing research into the human form on our new Teenage Lafora page.

Throughout the 1990’s a medical team at the Toronto Hospital for Sick Children were researching the human form of Lafora. in the same decade, two UK based Veterinary Neurologists made two significant discoveries: Canine Lafora was first identified by Dr Sue Fitzmaurice in 1996 and a little later, Dr Clare Rusbridge recognised that a number of Mini Wire Dachshunds, many of whom shared common  pedigrees, had the Lafora symptoms Sue had described.

Sue and Clare subsequently collaborated with Dr Berge Minnassian and his team at the Toronto Hospital for Sick Children in Canada to investigate the theory that there might be a common genetic cause of Lafora in both dogs and humans. Samples from the UK mini wire dachshunds were extensively tested adn eventually the research team were able to identify the genetic fingerprint of at least one form of the human Lafora.

In the longer term, this work may not only help in the development of treatments to help reduce the impact of the disease in humans, but also maybe, eventually, dogs. Read more about this fascinating programme on Dr Clare Rusbrige’s own website: Dr Clare Rusbridge - Lafora  or find out more about the new research, and how you might help with supporting the parents of these children on our Teenage Lafora page.

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