Getting to know you

The human genome is complex, to say the least, with an estimated 20,000-25,000 genes all coding everything from eye colour, to handedness and height.

The Human Genome Project, which began in 1990, took almost 15 years to complete, and we’re only now beginning to get to grips with what it all means.

Today, many laboratories contain what’s known as a gene sequencer, or a DNA sequencer. It’s a machine which essentially decodes DNA into its basic ingredients, the so-called ‘base pairs.’ These base pairs - A/T and C/G - are the ingredients which form all of the proteins and cells in all living things from plants, to people.

One of Cambridge’s most notable contributions to gene sequencing, comes in the form of sequencing by synthesis technology - SBS for short.

Lab, to local pub, to world stage

In the mid to late-nineties, two researchers from the University of Cambridge Chemistry Department were trying to think of ways to make use of all of the newly-emerging information on the human genome, and of Cambridge’s contribution to the understanding of DNA - think Crick and Watson.

The decades-long quest of scientists around the world to sequence the human genome, lent a hand to the development of what are now the most widely-used pieces of gene sequencing technology in the world. It began in Cambridge, and now it affects us all on a fundamental level - literally.

The result was sequencing by synthesis technology, and in 1998, Drs. Shankar Balasubramanian and David Klenerman founded Solexa, a company dedicated to making machines which would help scientists to sequence DNA for experiments.

Solexa was acquired by Illumina in 2007, along with the know-how to build and develop even better gene sequencing machines. Through Illumina, the technology invented in Cambridge now sits in labs around the world. In fact, there are more Cambridge-inspired Illumina machines in operation, than those of the rest of the gene sequencing vendors combined.

Gene sequencer machines like the ones produced by Illumina, can deliver results in a matter of hours, which is significant, considering the years it’s taken us to sequence genes in the past.

Great, but what does it mean?

Ok, so we’ve learnt how to decode DNA. We can look at individual genes and sequences of genes, but what does it mean for you and your mum?

We’ve all got a head, a brain, a heart and some intestines, but when things get specific, the variations in our genes are pretty astonishing. Ever wondered why one person is long and thin with blonde hair, and another is short and fat with brown hair? Genes. Ever wondered why some people get a certain disease but others don’t? Genes (and sometimes lifestyle.)

Genes are responsible for what you look like, how physically capable you are, and even to an extent, how you behave. Jim Fallon gives an incredible TED talk on what some people are calling “the serial killer gene.”

The more we understand about genes, the more we understand about ourselves: what makes us sick, what makes us behave how we behave, and which treatments are best for us.

The age of gene therapy

The idea behind gene therapy, or treating illnesses according to genetics, is that one size does not fit all. We’re all different, and we all respond differently to medications. Some people can’t take ibuprofen because it makes them sick, and in extreme cases, cancer treatments just don’t seem to work on some people, even though they’re tried and tested on thousands of others.

If you get ill, understanding your genes allows doctors to tailor a treatment specifically for you, that’s going to work with maximum efficacy according to your genetic make-up.

Gene therapy isn’t commonplace yet, but it’s a start, and we can thank gene sequencers like the ones invented in Cambridge, for providing the key to some very tricky locks.

Explore further

Illumina on gene sequencing technology

Sequencing by synthesis explained