Nystagmus research
An update on research (August 2010)
Dr Jay Self, BM, MRCOphth.
Over the past seven years our group has established itself as one of the leading nystagmus research groups in the UK. At the start of our work no nystagmus causing genes had been identified and few groups were looking at this particular eye disease.
In 2005 we studied a particularly large family with congenital nystagmus and I travelled to Australia to track down family members and examine them in their own homes. Following this initial exciting work I was awarded a prestigious MRC clinical research training fellowship which provided funding for my work for three further years. Subsequently, the clinical information collected in Australia, combined with DNA samples, enabled the group to identify which part of which chromosome harboured the defective gene causing nystagmus.
Following publication of this ground breaking work the causative gene for this type of nystagmus (CIN) was identified by our colleagues at a different UK centre. We subsequently examined this gene in our large collection of nystagmus patients and discovered that mutations in this gene were seen in less than 5% of cases of individuals with CIN. This work was published along with some detailed clinical studies of these patients and some other more complex genetic work aimed at understanding how some carriers of the gene have nystagmus and some do not (X inactivation studies). In 2007 the UK based Nystagmus Network awarded a £10,000 grant to add to three previous prestigious grants which have enabled us to continue our genetics research.
We are currently working to understand how mutations in the newly identified nystagmus gene lead to anomalous eye movements and also to identify new nystagmus causing genes. We are also investigating a number of other neurological diseases for which nystagmus forms a part, based on the hypothesis that they may share the same mechanisms of disease.
In 2009 we identified a mutation in a gene which causes a variety of movement disorders and even migraine in a family who had presented to us via a 4 month old girl with nystagmus. After our work with the family and identification of the genetic defect we had discovered that multiple members of the family also had the disorder and that some were starting to develop a movement disorder later in life. This enabled us to trial a medicine in this family, which would never have been considered prior to the genetic diagnosis and also enabled us to tell the family about inheritance, visual prognosis and general physical prognosis. This is an example of how on a small scale our work with families can benefit individuals and allow us to provide individualised medical care based on genetic diagnosis.
We are currently recruiting families and individuals with nystagmus and a very broad range of other eye diseases to try to help patients quickly by providing diagnoses and directing treatments, and to help patients in the longer term by understanding how the disease occurs and how we can intervene.
We would be very interested to hear from anyone with nystagmus who is interested in helping our research. Usually all that you need to do is give a sample of saliva or a mouth brush sample (small children) which is then mailed in the post to Southampton where the DNA is made anonymous and used for this exciting research. Our research team is particularly interested in families where several people have nystagmus, but anyone with nystagmus is invited to contact the team to take part. If you would like to consider helping with this research, or you have any questions about it, please contact Dr. Jay Self by email at J.E.Self@soton.ac.uk.