President of the Society for Endocrinology Professor Stephen O’Rahilly is leading the endocrine and metabolic rare disease theme of the National Institute for Health Research’s Rare Disease Translational Research Consortium.

The number of people living with rare endocrine diseases in the UK is estimated to run into hundreds of thousands, but fresh hope is on the horizon, thanks to new research.

The endocrine network is a series of glands that produce hormones to regulate everything from growth to reproduction. If a gland produces the incorrect amount of a hormone, an imbalance can occur resulting in disease. One of the greatest challenges in the treatment of rare diseases is diagnosis, many diseases present themselves insidiously and are readily mimicked by other conditions. They gradually affect many systems, as the hormones travel through the blood and act throughout the body.

The Rare Disease Research Consortium brings together researchers across England who study and care for patients with these disorders. Many rare endocrine diseases are caused by genetic abnormalities so they’ll also benefit from Genome England’s 100,000 genomes project. The aim of the in-depth research is to develop new, more effective therapies. We’ve never been in a better era for understanding cause and designing the best therapies, if you look back 20 years you realise we’ve come a long way, but unless we continue research, further advances won’t be made.

This article was adapted from an editorial written by Professor O’Rahilly for a supplement on rare diseases being distributed in The Independent on Rare Disease Day this weekend.

Rare Disease Day takes place on the last day of February each year. Its aim is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.