The UK has planned to fully sequence the genome of 100,000 Britons with cancer and rare diseases in an effort to decode their DNA, and hopefully find a cure for diseases. The project is unusual because it will decode the entire genome, not just parts of it.
Human populations have grown exponentially in the past 5,000 years, and new genetic mutations arise in each new generation. Humans have a vast abundance of rare genetic variants in the protein-encoding sections of the genome. A new study tries to clarify when many of these rare variants arose.
Nicolas Navin wanted to work out the sequence from individual cancer cells to see how they had mutated and diverged as the cancer grew. Back in 2010, he was a postdoctoral fellow at Cold Spring Harbor Laboratory in New York and exploring the genetic changes that occur during breast cancer.
DNA sequencing is getting faster and cheaper, and clinicians are now finding uses for it in their practices. A test for malfunctioning genes might show how to treat a tumor or help diagnose the underlying cause of disease. However, raw sequencing data is too complex for most clinicians to directly analyze, and medical institutions are wary of transferring patient data to specialists located elsewhere.
A new, faster DNA-sequencing machine, as well as streamlined analysis of its results, will allow physicians to diagnose genetic disorders in days rather than weeks. Up to a third of babies admitted to neonatal intensive care have a genetic disease, this may help pin down the genetic causes.
In horses, unusual gaits have been traced to a single mutation. This endows them with a wider repertoire of gaits, showing that some seemingly complex physical traits can have a simple genetic basis. This could also elucidate the genes behind movement disorders in humans.
New research pinpoints to certain mutations that may have helped the stickleback, a tiny armored fish, to evolve quickly between saltwater and freshwater forms. Since the end of the last ice age, about 10,000 years ago, the ocean-dwelling three-spined sticklebacks (Gasterosteus aculeatus) have repeatedly colonized freshwater streams and lakes. In the last ten generations, marine sticklebacks have managed to swap their armored plates and defensive spines for a form that’s smoother for freshwater.