This year, Rare Disease Day fell on the rarest of days – 29th of February. A rather appropriate convergence of day and date perhaps…

And yet, as Louise Fish, Chief Executive of Genetic Alliance UK explains: “Although rare conditions are individually rare, they are collectively common, affecting some 3.5 million people in the UK.” And this more attention-grabbing figure, was the reality Genetic Alliance UK, and the more than 230 organisations it represents, looked to highlight on Rare Disease Day this year. That and the fact that behind every statistic is a human story.

The Importance of Genomics in Rare Disease

The importance of developing increased awareness around the prevalence of rare diseases –currently some 7000 identified conditions – and the need for continued genomic research, is that early diagnosis can improve outcomes. Particularly relevant as 70% of rare diseases start in childhood, and 8 out of 10 rare diseases are genetic.

“This year, as well as highlighting the fact that rare diseases are uncommonly common, we were looking to link this to the individuals behind the numbers. And raise awareness of the fact that millions of people living with different rare conditions are experiencing the same challenges around diagnosis, care and treatment.”

It is also the case that the most common of diseases, cancer, has at least 200 rare forms, as Jane Lyons, Chief Executive Officer of Cancer 52 notes:

“It’s currently estimated that some 20% of all cancers are rare* but this figure is likely to grow in tandem with developments in genomic research; work which has the potential to ensure people receive healthcare tailored to their specific condition.”

(*Affecting less than 6 in 100,000 individuals a year)

A National Voice, A Global Movement

Whilst Genetic Alliance UK, and its long-standing support network SWAN UK (Syndrome Without a Name) provide a national focus for awareness raising in the UK, Rare Disease Day is a globally coordinated movement working towards equity in social opportunity, healthcare and access to diagnosis and therapies for people living with a rare condition.

All figures from UK Rare Disease Framework (Department of Health, 2021)

To mark Rare Disease Day this year, we also took time out to interview our own Clinical Director for Rare Disease, Dr. Jackie Cook, for our Road to Genome Podcast