This article was written by Dr Melissa Lewis-Brown, Grants Manager at the Academy of Medical Sciences.
Today, being Rare Disease Day, seems an appropriate time to talk about last week’s Crick Symposium, on the subject of rare diseases, held at the University of London’s Senate House.
Many Academy Fellows spoke at the event including Professor Tim Aitman FMedSci, Professor Phil Beales FMedSci, Professor Francesco Muntoni FMedSci, Professor Fran Platt FMedSci, Professor Veronica van Heyningen CBE FRS FRSE FMedSci and Professor Nick Wood FMedSci.
These Fellows, and other speakers, examined the genetic information that predisposes an individual to a rare disease, explored the mechanisms of rare disease and introduced examples of current personalised medicine and therapeutic approaches.
Some of the key points that came out of the discussion were:
Rare diseases are more common than their collective names suggests
1 in 2000 people in the UK are affected by a rare disease (collectively), which is more than the number of people with diabetes. 7% of the UK population will be affected by a rare disease at some point in their lives.
A new home for rare disease research?
Professor Beales introduced the symposium and interestingly articulated the vision of the rare disease community that the Crick Institute could become a vibrant and much-needed hub for rare disease research. He gave some impressive stats on how much rare disease research is going on within the institutions that comprise Crick and the immense potential added value in networking these fragmented groups.
UK government driving down the cost of sequencing a genome
I’m always interested in the most current quotes for sequencing a genome: last week it stood at $1000 according to Professor Aitman - the lowest I have ever heard it quoted. He was of the opinion that a major driver of the spectacular improvement in sequencing technologies and reduction in the price of sequencing a genome since 2011, was the government’s decision to sequence 100,000 genomes (there’s now a lot of competition between companies who all want a slice of the government’s pledged £100m).
Rare disease research helps common disease research
A common misconception of rare disease research is that it is not as worthy of investment compared to research into common diseases because they affect so few people. But in fact there are many many examples (such as those given by Professor Platt and Professor Wood) of where insights from researching rare diseases (including rare forms of common diseases) have informed common disease aetiology/pathology.
Crick’s next symposia is on 9 June and the subject is ‘New frontiers in optical microscopy’.