Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.
STAT: The ever-lower cost is helping to drive fast-moving changes in sequencing. Health systems are preparing to test programs that could lead to the use of whole-genome screening in millions of newborns.
While it is safe to say that RCIGM has sufficiently proven its ability to identify the genetic variants driving many of these life-threatening rare conditions, it is now on a mission to bring its method of diagnosing sick babies to health systems across the country.
While companies and investors have learned how to profit handsomely from rare diseases, they are still a healthcare desert to most people who suffer from them.
Describing a previously unknown genetic condition that affects children, researchers at University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine say they also found a potential method to prevent the gene mutation by administering a drug during pregnancy.
