“The goal is to collect, organize and make accessible a representation of all the genetic variation that exist in humans, big, small, common and rare,” said Evan Eichler, a professor of genome sciences at the University of Washington School of Medicine in Seattle and one of the organizers of the project.
Major advances in the precision and speed of gene sequencing technology followed by dramatic reductions in the costs of testing – have radically changed how medical genetics clinics function. But while sequencing can provide confirmation of a suspected, well-understood condition, it frequently results in a situation like that faced by the Smiths, where the testing result shows an incredibly rare disorder with little known about it.
Inspectors repeatedly found manufacturing and device quality problems with the HeartWare pump. But the FDA didn’t penalize the company, and patients had the device implanted without knowing the facts.
The potential for health-tracking apps to improve health care has barely been tapped.
Powerful genetic tools have become cheap and agile enough for biologists to create new strains of model organisms
With the software, researchers can solve problems that used to take years to work out.
If Some Have Their Way, Virtual Visits Are Here to Stay.
Covid-19 let virtual medicine out of the bottle. Now it’s time to tame it.
A key reason lifesaving ECMO is being rationed in the U.S. is a lack of regional coordination.
Genetic vaccines, wearable tech and new ways to discover drugs.
The coronavirus vaccines made by Pfizer and Moderna rely heavily on two fundamental discoveries that emerged from federally funded research.
The gene expression and chromatin accessibility atlases will accelerate the study of the genomics of normal and abnormal development.
The vaccine has to be stored at -70 degrees Celsius. Typical freezers don’t get that cold, making distribution of this vaccine a logistical nightmare.
Many have pinned their hopes on a COVID-19 vaccine being developed at “warp speed.” But some scientific experts warn they’re all expecting too much, too soon.
The way we train our immune systems now to respond to SARS-CoV-2 could impact how well our bodies can respond to future coronaviruses.