genetics of normal variation
dgmacarthur | November 30, 2008Disclaimer: I was one of the authors on a 2003 study reporting a link between ACTN3 and athletic performance, but I have no financial interest in ACTN3 gene testing. The opinions expressed in this post are purely my own.
An article in the NY Times yesterday describes the launch of the grandiosely named Athletic Talent Laboratory Analysis System (ATLAS). The ATLAS test looks at a common genetic variation within the ACTN3 gene, which has been associated in numerous studies with elite athlete status and with variation in muscle strength and sprint ability in the general population. The company…
dgmacarthur | November 3, 2008One of the major challenges of the personal genomic era will be knowing exactly which (if any) of the millions of genetic variants present in your genome are likely to actually have an impact on your health. Such predictions are particularly problematic for regulatory variants - genetic changes that alter the expression levels of genes, rather than the sequence of the protein they encode. A paper out in PLoS Genetics this week goes some way towards solving this problem by giving researchers a much better idea of exactly where they need to look for these variants.
The paper
The paper draws on…
dgmacarthur | October 14, 2008From a geneticist's point of view, male pattern baldness - also known as androgenic alopecia - is a tempting target. Baldness is common in the general population, with a prevalence that increases sharply with age (as a rule of thumb, a male's percentage risk of baldness is approximately equal to his age, e.g. 50% at age 50, and 90% at age 90), so there are no shortage of cases to study. It's also a strongly heritable trait, with about 80% of the variation in risk being due to genetic factors. Finally, baldness has been reported to be associated with a wide range of diseases such as prostate…
dgmacarthur | October 12, 2008
Nature News has an intriguing article
on the next three decades of reproductive medicine: essentially a
series of short musings from scientists working in the field about the
issues we will be facing in 30 year's time.
It's worth reading through in full, but this statement from Susannah Baruch at Johns Hopkins caught my eye:
There's
speculation that people will have designer babies, but I don't think
the data are there to support that. The spectre of people wanting the
perfect child is based on a false premise. No single gene predicts
blondness or thinness or height or whatever the 'perfect…
dgmacarthur | October 4, 2008Anyone who has walked past a TV set over the last few days will have seen footage of the remarkable Jamaican sprinter Usain Bolt, who comfortably cruised to victory (and a world record) in the Olympic 100 metre sprint, and as I write this has just done precisely the same thing in the 200 metre sprint. The interest in Bolt stems not from the fact that he wins his races, but rather from the contemptuous ease with which he does so.
And Bolt is not the only Jamaican to impress in short distance events in Beijing: the country's women's sprint team took all three medals in their 100 metre dash.…
dgmacarthur | September 5, 2008I have every intention of living forever, but I'm deeply aware of a number of factors that stand in my way. I'm not female, for a start; I wasn't born to a young mother; I enjoy my food far too much to ever consider caloric restriction; and I hate exercise with a passion. So right now my game plan is basically to rely on advances in medical science, and hope like hell that I have the right genes - bearing in mind that at least 25% of variation in life expectancy is genetically determined.
Finding the actual genes that influence longevity, however, has long proved problematic. In fact, the…
dgmacarthur | August 31, 2008Note: I'm splitting this off from my earlier post on 23andMe's encouragement of genetic testing of children, since I think this rather speculative argument distracts from the main point of that post.
I mentioned in my previous post that there's a real danger that parents might try to use information from current genetic tests to steer their children in specific directions (and that at least one company is already touting such a test) - but the information available right now from genome scans simply isn't accurate enough to justify such decisions.
For instance, to mention a field close to my…