Giving Compass' Take:

• In this blog post from The Naked Scientists, Frankie Macrae — a trainee clinical scientist in the Genetics Department at Addenbrooke's Hospital in the UK — documents her experience trying to find the root causes of diseases.

• Macrae speaks with a mother whose child died from a genetic disease, emphasizing the importance of bringing the human element into disease-related research.

• Here are some predictions on the future from the most influential geneticist of our time.

I start my day much like anyone else with an office job — with a strong coffee, a look through my e-mails and a [look at the pastry table]. After that, I begin my day’s work: a spreadsheet full of numbers and letters, where each line represents a change in someone’s genome that could be causing a disease.

This is "Next-Generation Sequencing." I sometimes think of it as, rather than trying to find a needle in a haystack, trying to find a needle in a needle stack. If you compare the DNA of two random, unrelated humans, you find 3 to 4 million genetic differences between them. Some of these differences, or variants, will have no effect on that person’s health and are known as "polymorphisms." Others may be causing disease and are called "pathogenic variants" or mutations, although we’re trying to move away from using the word mutation because people associate it with horns, wings and hair where it shouldn’t be. Nevertheless, it can be very difficult to tell a mutation from a polymorphism.

My job is to trawl through pages of these variants, with (or sometimes without) a list of the patient’s symptoms, to see if anything fits.

Read the full article about a day in the life of a genetic scientist by Frankie Macrae at The Naked Scientists.