News | Thursday, 28th February 2019
How our academics are developing treatments to tackle rare diseases
On Rare Disease Day, we look at how some of our researchers are developing treatments to combat uncommon diseases.
Around 1 in 20 people will develop a rare disease at some point in their lifetime. However, for the majority of rare diseases there is no cure, and many go undiagnosed.
Rare Disease Day, which takes place on the last day in February each year, is a chance to raise awareness of such diseases. Here we highlight some academics at Manchester Met who are working to address the needs of those living with rare diseases.
Tackling a rare form of epilepsy in young children
Pyridoxine-dependent epilepsy (PDE) is a condition that has devastating effects on neurodevelopment and motordevelopment. It can lead to seizures in infancy, and in some cases even before birth. Seizures can last up to several minutes leading to convulsions, rigidity and loss of consciousness.
Unfortunately, the condition cannot be treated with traditional epileptic drugs, which are used to control seizures.
At Manchester Metropolitan Dr Mark McLaughlin, Lecturer in Synthetic and Medicinal Chemistry, is leading a group that is working toward developing inhibitors of an enzyme responsible for (PDE). Through collaboration with Prof Wyatt Yue at the University of Oxford, the team uses cutting edge screening platforms to identify chemical leads. These will then be evaluated as potential therapeutic cures.
Dr McLaughlin said: “One rare disease may affect only a handful of patients in the EU, while another may touch as many as 245,000.
“In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases. It is therefore vital that scientists start to combat these diseases, and our work at Manchester Metropolitan is working towards this goal.”
Reprogramming skin cell samples to tackle rare degenerative brain disease
Batten disease is a name that has come to denote several inherited life-limiting neurodegenerative diseases that share similar features.
Genes carrying a mutation that causes Batten disease are passed down by birth parents, who are unaffected carriers having only one copy of the mutated gene. The affected child will have inherited a mutated gene from both parents.
The Batten Disease Family Association estimate that between 11 and 17 children, young people and adults are diagnosed with a form of the disease each year; meaning there are between 100 and 150 affected individuals currently living with Batten disease in the UK.
At Manchester Metropolitan, Professor Tristan McKay leads a team of researchers working on developing new therapies for Batten disease as a partner in the BATCure consortium. This a Pan-European research project, awarded £5.3m in EU funding that is developing new therapeutic options for patients living with three different forms of Batten disease (CLN3, CLN6 and CLN7).
By reprogramming skin cell cells obtained by skin biopsies taken from living Batten disease patients, the Manchester Metropolitan lab is able to reprogramme them to stem cells capable of further differentiation to neurons and other cell types affected by the disease in thebrains of patients.
“We can grow huge quantities of cells in the lab in a stem cell state and then turn them into whatever cell type we wish to study,” Professor McKay explains.
“We can convert these cells into many different types of specialised brain neuron affected by Batten disease. We are studying in the lab how Batten disease affects brain neuron activity and health in patients currently attending clinics across Europe. We will also have the ability to test new drugs on these cells for their ability to reduce or prevent disease progression.”
By the end of the project, BATCure expects to have preclinical evaluations of new lead drugs and gene therapies.
