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Genetic therapies in the spotlight for Rare Disease Day

Rare Disease Day 2019. Rare Disease Day 2019.

To mark Rare Disease Day today, scientists from the Genetics Research Centre at St George’s have set up a stand at the university to raise awareness of these conditions and explain more about their work in this area.

Rare diseases are those defined as affecting fewer than 1 in 2000 of the population. One rare disease may affect only a handful of patients, but lack of scientific knowledge about these diseases may often delay diagnosis and access to treatment and care – and in fact, often no effective treatments will have been developed.

80% of rare diseases have genetic origins, and the researchers are presently working on several different rare diseases to identify potential diagnostic and treatment therapies.

One such condition is MNGIE (mitochondrial neurogastrointestinal encephalomyopathy). Average life expectancy for patients with this condition is just 35 years. It is caused by a defect in a gene which codes for an enzyme called thymidine phosphorylase. Patients with MNGIE don’t produce enough of this enzyme, which is vital in preventing toxic metabolites in the blood. Toxins then accumulate and cause damage to the cell powerhouses or mitochondria, with the result that energy-dependent tissues such as muscle, the gastrointestinal system and the nervous system are severely affected.

A team led by Dr Bridget Bax at St George’s has been investigating the use of a patient’s own red blood cells as a vehicle to carry the missing enzyme in the blood circulation. The red blood cells provide a protected environment in which the enzyme can work and reduce the toxic metabolites in the blood, relieving the nervous system and muscle of their damaging effects. This exciting therapy has now been approved by the Medicines and Healthcare products Regulatory Agency, clearing the way for patient clinical trials to begin this year in the UK.

Researchers at St George’s are also working on several other rare diseases affecting the lungs, the heart, the mitochondria and the lymphatic system, with projects including diagnostic and screening therapies to identify the genetic cause of a disorder as well as potential treatments.

Dr Pia Ostergaard, Reader in Human Genetics at St George’s, said: “The ultimate goal for all of us is to try and find a treatment for a condition, but often just knowing what exactly is wrong is often really helpful for patients; labeling the condition means at last there is an understanding of what is happening.”

Identifying the condition also allows patients to make important life choices. Many severe rare dieases will appear in early childhood or be identified in a foetal scan. Identifying the condition will help parents to understand whether the condition has arisen spontaneously or has been inherited, and potentially what the risk may be for a subsequent pregnancy.

Rare Disease Day is an opportunity to raise awareness of rare diseases and their impact on the lives of patients and families, and the scientists will be discussing their research with the public today as well as offering cupcake prizes in a lighthearted quiz.

Dr Ostergaard added: “Some of these conditions are very severe – others less so. But we think it’s vital to raise awareness. Even though these conditions are rare, every person still needs help.”

You can follow updates from the team throughout the day on Twitter on @SGUL_Genetics and more information about the day itself can be found here.

Published: 28 February 2019

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