Silicon Valley may have coined the ‘big data’ buzzword, but genomic scientists have been working with massive datasets for decades. Due to recent breakthroughs in DNA sequencing technology, genetics is moving from the laboratory into the market, and just about everyone is taking a keen interest.
Noah is a six-year-old suffering from a disorder without a name. This year, his physicians will begin sending his genetic information across the Internet to see if there’s anyone, anywhere, in the world like him.
A match could make a difference. Noah is developmentally delayed, uses a walker, speaks only a few words. And he’s getting sicker. MRIs show that his cerebellum is shrinking. His DNA was analyzed by medical geneticists at the Children’s Hospital of Eastern Ontario. Somewhere in the millions of As, Gs, Cs, and Ts is a misspelling, and maybe the clue to a treatment. But unless they find a second child with the same symptoms, and a similar DNA error, his doctors can’t zero in on which mistake in Noah’s genes is the crucial one.
Le 19 février dernier, la "Food and Drug Administration" (FDA) a accordé à 23andMe une autorisation de mise sur le marché (AMM) ouvrant un nouveau chapitre dans la réglementation des méthodes de dépistage rendues possibles par les progrès exponentiels autour du séquençage génétique [1]. Le test en question permet la détection du port de l'allèle récessif d'un gène responsable du syndrome de Bloom, maladie génétique rare provoquant un retard de croissance et un risque accru de développer un cancer. Il est particulièrement indiqué pour des futurs parents, dans le cas où les deux seraient originaires d'Europe centrale ou de l'Est, et particulièrement chez les familles juives ashkénazes.
A coalition of geneticists and computer programmers calling itself the Global Alliance for Genomics and Health is developing protocols for exchanging DNA information across the Internet. The researchers hope their work could be as important to medical science as HTTP, the protocol created by Tim Berners-Lee in 1989, was to the Web.
For more than a decade researchers have been unleashing a deluge of information about the role of genes in disease, based on automated sequencing of DNA. Genetic tests on individual patients are slowly becoming more common, more detailed, and less costly.
Henry Ford kept lowering the price of cars, and more people kept buying them. The San Diego–based gene sequencing company Illumina has been doing something similar with the tools needed to interpret the human genetic code.
A record 228,000 human genomes will be completely sequenced this year by researchers around the globe, said Francis de Souza, president of Illumina, the maker of machines for DNA sequencing, during MIT Technology Review’s EmTech conference in Cambridge, Massachusetts.
De Souza said Illumina’s estimates suggest that the number will continue to double about every 12 months, reaching 1.6 million genomes by 2017, as the technology shifts from a phase of collapsing prices to expanding use in medicine.
An Israeli-led research team has discovered how a mysterious circular type of genetic molecule is produced, and that might have implications for the treatment of degenerative diseases like muscular dystrophy.
The group of molecules, called circular RNA, was rediscovered only two years ago, and little was known about where it comes from or what it does in the body, let alone about the role it plays in disease. By analyzing human and fruit fly cells, the scientists found that the body produces circular RNA at the expense of “normal” RNA, greatly reducing gene expression — the driver of life.
One day in 1989, biophysicist David Deamer pulled his car off California’s Interstate 5 to hurriedly scribble down an idea. In a mental flash, he had pictured a strand of DNA threading its way through a microscopic pore. Grabbing a pen and a yellow pad, he sketched out a radical new way to study the molecule of life.
Twenty-five years later, the idea is now being commercialized as a gene sequencing machine that’s no larger than a smartphone, and whose effects might eventually be similarly transformative.
