New research into rare genetic disease

Dr John Lucocq from the School of Life Sciences has presented his expertise at a Royal Society Symposium hosted by the Lowe Syndrome Trust. John is currently leading research to advance understanding and treatment into this rare genetic disease.

The symposium was chaired by Lorraine Thomas, whose son Oscar has Lowe Syndrome. Both Oscar and Lorraine visited John at the University last year, when he was awarded a grant of £49,869 from the Trust to undertake his research.

John presented a lecture entitled 'OCRL1 and its lipid products - high-resolution localisation and their role in membrane traffic and cell polarity'.

Created in 2002, the Lowe Syndrome Trust highlights the disease, which is caused by lack of an enzyme that affects the brain, the kidneys, the eyes, the skeleton and the muscles. Sadly, most Lowe Syndrome children do not survive to adulthood because of these complications, the basis of which is still not fully understood.