Discoveries around genomics and partnerships related to genomic data have recently been making headlines with Sophia Genetics raising $30 million to advance and expand their genomics platform that would help doctors better diagnose patients in a variety of disease areas, WuXi NextCODE securing $240 million to further build their genomics database, and 23andMe bringing in $250 million to further invest in research that would pave the way towards personalized medicine. However, the article below shares a fascinating story of how a geneticist used genomic data to uncover a patient’s disease that baffled doctors for 4 years. This story exemplifies how far we have come in understanding genomic data and unlocking its power to improve diagnosis and get patients the right treatment.
After four years, it took a geneticist a few hours to unravel a boy’s puzzling illness
https://www.statnews.com/2017/05/16/medical-mystery-genetics/
