Two scientific stories in the press have caught my eye this week. The first was the announcement that the discovery of DNA, made by the now legendary scientists James Watson and Francis Crick in 1953, has been voted the UK’s greatest scientific breakthrough of all time. This single event has proved to be the birth of modern day genetics.
Flash forward to genetics in the current day (not discounting anything that has occurred between now and then) and the second story of interest concerns the sequencing of Ozzy Osbourne’s genome, in an attempt to gather insights into his longevity! Despite numerous addictions to alcohol, illegal narcotics and prescription drugs, the legendary front man of Black Sabbath and former party-animal, remains alive and healthy, much to the astonishment of the medical community. The sequencing is being carried out by Knome, a US based biotech company, with the aims of identifying any genetic variation that may have allowed him to ‘survive’ periods of great excess.
Whilst this story may seem topical, it highlights two significant matters: 1) that personalised genome sequencing, whilst currently expensive, is easily achievable and that; 2) current scientific thinking has established that an individual’s genetic variation may provide either a health advantage (or alternatively a predisposition to disease). This nicely bookends a blog I wrote two weeks ago, about how the potential effect of genetic variation within the FLCN gene should be accounted for, and takes it one step further: could there be some genetic modifiers that affect the expression of FLCN, and by extension, effect the phenotype of BHD Syndrome?
www.bhdsyndrome.org – the primary online reference site for anyone interested in BHD Syndrome.
