Rare Disease Day 2020

Every year on February 29th (or February 28th if not a leap year) people gather together to mark Rare Disease Day. It is an international day dedicated to raising awareness of people living with a rare disease with various events and activities taking place around the world. This year the global rare disease community and its supporters come together to share the message: Rare is many. Rare is strong. Rare is proud! Each year they call for more equitable access to social opportunity, treatment and care for the 300 million people living with a rare disease and their families around the world.

Of the 7000 rare diseases discovered so far almost 1000 affect the eye. This year Moorfields Eye Hospital NHS Foundation Trust, on City Road held its own event to mark Rare Disease Day. Researchers from UCL Institute of Ophthalmology who study rare eye conditions were invited to take part in the day by Sabina Uddin Health Hub Support Officer for the Friends of Moorfields.

“Patients really enjoy meeting researchers and finding out more about the work that they do. It was great to have the researchers come over to the Hub to discuss their work with patients and staff who were passing by. We often get asked questions about research, and it is wonderful that so many researchers were willing to come over this year to help us mark Rare Disease day at the hospital” – Sabina

Researchers and patients alike enjoyed chatting about research and interesting projects taking place at UCL Institute of Ophthalmology. Several researchers who are studying an array of rare eye conditions were involved in the day. We learnt about: Achromatopsia a rare condition characterised by a partial or total absence of colour vision, rare inherited eye diseases and the new website gene.vision that launches in May designed to be a comprehensive resource for people with rare eye conditions.

One of the researchers said “I found the experience enjoyable – a lot of people said they learnt something new”