Kim Goodsell: one gene for two diagnoses
Kim Goodsell was told her rare heart and nerve diseases were a coincidence. She read the literature, predicted an LMNA mutation and had a test confirm it.
People who measured themselves, found something that mattered, and changed what they did because of it. Each one is built from what the person has made public.
Kim Goodsell was told her rare heart and nerve diseases were a coincidence. She read the literature, predicted an LMNA mutation and had a test confirm it.
Computer scientist Larry Smarr tracked his own blood and stool biomarkers for years. Two inflammation markers moved out of range long before a gastroenterologist told him he might have Crohn's disease, and in 2016 he used a 3D model built from his own MRI scans to help plan the surgery that removed the diseased colon.
Stanford geneticist Michael Snyder sequenced his genome and then sampled his own blood about twenty times over more than two years, measuring RNA, proteins, and metabolites at each point. The series caught his blood glucose rising after a viral infection, and he brought it back to normal with diet and exercise.
After standard care for his spinal osteosarcoma ran out, GitLab co-founder Sid Sijbrandij profiled his tumor with every assay he could get. RNA data from the recurrent tumor pointed his team to an experimental FAP-targeted therapy that shrank it enough for surgery.