There are 300 million people worldwide who are living with a rare disease and over 6000 kinds of rare diseases. A rare disease is defined as a disease or condition that affects fewer than 1 in 2,000 people. 72% of rare diseases are genetic and 70% of them begin in childhood.

Rare Disease Day is a global day for awareness and action on rare diseases, that seeks to work towards equity in social opportunity, healthcare and access to diagnosis and therapies for those living with a rare disease.

Whilst Rare Disease Day is patient-led, everyone can participate in raising awareness - families, caregivers, healthcare professionals, researchers, clinicians, policy makers, industry representatives and the general public.

This Rare Disease Day, we wanted to spotlight some of the work being done right here in Manchester, within our Trust and share the importance of research for those living with a rare condition.

Dr Siddharth Banka is the Clinical Director of Manchester Rare Conditions Centre, Professor of Genomic Medicine and Rare Diseases at the University of Manchester and a Consultant Clinical Geneticist at Saint Mary’s Managed Clinical Service. Dr Banka came into the office to speak to us about the need for the centre and the role that Manchester has played in researching rare conditions globally.

See what he had to say in the video below.

We also spoke to a long-time fundraiser of ours and friend to the centre, Ann Scales. Ann’s daughter Hannah had a rare condition called Kabuki Syndrome - a rare, multisystem disorder which is characterised by distinctive facial features, growth delays, intellectual disability, skeletal abnormalities and short stature. However, specific symptoms of Kabuki syndrome can vary greatly from one person to another.

Hannah was born in a time where even a confirmed diagnosis wasn't possible and Anne has worked hard and advocated for more research, allowing affected families like hers a greater understanding around it. Sadly, Hannah passed away at the age of six, but her legacy lives on in the research she made possible.

Hear Ann’s story in the video below.

You too can support great research and the people behind it across our family of hospitals. Hover over Get Involved on our website to learn more about fundraising or click the button below to donate.