We might essentially generate a ‘dating agency’ to try to match our patient with a similar case somewhere else in the world
- Lucy Raymond
At some point in their career, every doctor will encounter a patient whose condition perplexes them, requiring detailed investigation and discussion with colleagues before diagnosis is possible. After all, not every disease is as common as cancer, which affects around one in three of us, or depression, which affects one in 10.
Dr Lucy Raymond from Cambridge University's Department of Medical Genetics specialises in rare diseases. Technically, this means diseases that affect fewer than one in 2,000 people, but in fact, Raymond sees children with learning disabilities so rare that they may be the only person in the UK to be affected.
These conditions are usually caused by one of two scenarios: a spontaneous change to their DNA, not inherited, or a ‘recessive disorder’ where two copies of the same, rare variant are necessary for the disease and each parent unwittingly passes on a copy. Comparing the child’s and their parents’ genomes enables the researchers to pinpoint the gene responsible. In extremely rare cases – where the patient appears to be truly unique – the researchers need to study whether the same variant in mice or zebrafish creates a similar condition.
“Or,” Raymond explains, “we might essentially generate a ‘dating agency’ to try to match our patient with a similar case somewhere else in the world.” With these diseases as rare as they are, the only way for this to be viable would be to have access to tens, possibly hundreds, of thousands of potential matches: something the era of ‘big data’ makes possible.
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Image: DNA/protein function finder from the Wellcome Trust, Sanger Institute, emblebi and YourGenome
Credit: Duncan Hull
Reproduced courtesy of the University of Cambridge
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