Review of our blogs – 2013

Over the past year, Wellcome Trust Sanger Institute researchers have shared their passion and enthusiasm for their work to understand biology, human health and disease through genomes. To find out more, please click on the links.

Beyond the Genome stand at the Royal Society Summer Exhibition
Beyond the Genome stand at the Royal Society Summer Exhibition

This year marked the 60th anniversary of Francis Crick and James Watson’s discovery of the ‘secret of life’. In this blog from April, Aileen Sheehy takes us on a journey through six decades of genomics. For two decades the Sanger Institute has been at the heart of genomic research. To see the past, present and future of the Institute, take a look at Fran Glover’s blog about the Beyond the Genome display at the Royal Society’s Summer Science Exhibition in June. From examples early technology, to iPad sequencing games and thought provoking video about the ethics of genomic research, Fran explains how this display grabbed the imagination of the public.

Sequencing has come a long way since the Institute opened in 1993. It took 13 years to read the first full human genome: today the Institute’s sequencing centre is able to deliver one high-accuracy genome every hour and the technology just keeps racing on. In his blog, Matthew Mayho explains the challenges of adapting next-generation sequencing machines to recently developed transposon-directed insertion-site sequencing, offering a fascinating insight into the research and development that enables scientific advances to be made.

Ludmil Alexandrov at work
Ludmil Alexandrov at work

In a prime example of scientific advances made at the Sanger Institute, Ludmil Alexandrov’s blog from May explains research that has uncovered the mutational signatures of cancers. This understanding of cancer development will, it’s hoped, lead to more targeted treatments, benefitting countless patients.

Existing cancer treatments, research at the Sanger Institute has found, could help to ease the suffering of as many as 100 million people infected with tapeworms. In this blog from March, Magdalena Zarowiecki explains why tapeworms, which are essentially the slackers of the parasite species, are so difficult to beat. In a fascinating piece of research, her team reveals how tapeworms have, since becoming parasites, lost important functions getting rid of eyes, a mouth and guts because all they have to do is soak up goodness from their host.

Genetic sequencing can tell us a great deal about how species have developed and changed over time. In this blog from June, Bronwen Aken explains how bioinformatics was used to delve through the turtle’s 250-million-year genetic history to find out why it is one of only three vertebrae species with a shell.

This type of research isn’t reserved for humans and animals, sequencing can also be used to track the changes in a virus, a technique that could one day help us to slow the rate of transmission. As Chris Illingworth explains in this blog from January, the fascinating thing about following the evolution of a virus is how rapidly change can occur.

Evolution often involves random mutations. While we all inherit a mix of genetic variations from our parents, there are also changes that appear that aren’t inherited from either our mother or our father. Often these mutations are harmless but sometimes they can lead to devastating rare diseases that are difficult to diagnose. In this blog from September, Art Wuster, talks about DeNovoGear, a piece of software that can compare data from a father-mother-child family and locate the genetic variation that is not present in either the mother or the father.

One family's genetic tree reveals interesting new role for Y chromosome
One family’s genetic tree reveals interesting new role for Y chromosome

One particularly interesting genetic family tree featured in a blog by Yali Xue in February. All the males in the family develop deafness in adulthood but none of the women does. This, as Yali explains, is fascinating for geneticists as it proves that there’s something new and interesting happening on the Y chromosome. In the blog, Yali takes us through the twists and turns in the team’s pursuit of this rogue gene over the past seven years.

We’ve highlighted just a taste of all blogs we’ve brought you this year, which in turn is small fraction of the work produced by teams here at the Sanger Institute. As scale and scope of genomic research continues to grow, and, as sequencing becomes more commonplace in clinical practice, concerns about the use of our genetic data need to be addressed. In this blog, published this month, Ewan Birney and Caroline Wright examines some of these issues.

Despite the astounding rate of progress in genetic research, it’s always worth remembering the task that lies ahead. In this blog from November, Jonathan Mudge does just that; highlighting the gargantuan task of annotation that only grows as we gather more data and as we discover more about the functions of so-called non-coding regions.