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Case Studies

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: one gene for two diagnoses

Kim Goodsell, endurance athlete and former pre-med student with no formal scientific training

Told that her rare heart condition and her rare nerve disease were an unlucky coincidence, endurance athlete Kim Goodsell read the literature herself, predicted a mutation in the LMNA gene, and paid for the test that confirmed it.

targeted single-gene sequencing (LMNA)clinical records and imagingpublished medical literature

Larry Smarr: the inflammation was in the numbers first

Larry Smarr, founding director of Calit2 and professor of computer science and engineering at UC San Diego

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.

blood biomarker panels (including C-reactive protein)stool biomarker panels (including lactoferrin)gut microbiome sequencing (shotgun metagenomics of stool)consumer genotyping (23andMe)MRI imagingwearable activity, sleep, and heart-rate tracking

Michael Snyder: watching his own diabetes begin

Michael Snyder, professor and chair of genetics at Stanford University School of Medicine

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.

whole-genome sequencingwhole-exome sequencingRNA-seq (transcriptome)proteomicsmetabolomicscytokine panelsautoantibody profilingblood glucose and HbA1cclinical lab resultswearable sensors (heart rate, blood oxygen, skin temperature, activity)

Sid Sijbrandij: collecting the data first

Sid Sijbrandij, co-founder and executive chair of GitLab

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.

whole-genome sequencingwhole-exome sequencingbulk RNA-seqsingle-cell RNA-seqsingle-cell TCR sequencingspatial transcriptomicslong-read sequencingHLA typingblood-based minimal residual disease (MRD) testingflow cytometrytargeted PET/CT imagingmultiplex immune imaging and immunohistochemistrytumor organoid drug-response testingclinical lab results