Undiagnosed #1

This research collaboration is supported through your contributions and donations.



We’re fascinated with the concept of open collaboration for biomedicine research. The expandability of bright minds working on difficult medical problems is what drives our research events. Undiagnosed #1 is our first patient collaboration focusing on an unknown genetic condition. In Spring 2019 we will bring together a group of Engineers and Researchers to look for answers and create medical insights into this patients unresolved condition.

SVAI has produced two patient oriented research hackathons to date, held in Spring 2017 and Spring 2018. Both research hackathons were hosted in San Francisco California and brought together hundreds of researchers and engineers to advance medical insights for rare disease. Both events created a range of analysis including cancer clustering algorithms, gene expression, and drug target pathways. Learn more: Neurofibromatosis Type 2 (NF2), Papillary Renal-Cell Carcinoma Type 1 (p1RCC)


  • Contribute to a real, ongoing patient case.

  • Advance research and medical insights for rare and undiagnosed diseases.

  • Create interdisciplinary research opportunities for computer scientists and biologists.

  • Education and skills development in AI/ML, computational biology, genomics and data science.

  • Build a thriving community for open, collaborative biomedicine.


JM is a 32 year old, white/European male who has an inherited, undiagnosed metabolic condition. He has provided this introduction:

“This inherited metabolic condition, whatever it is, has eluded doctors since I was born. My mom frantically took me from place to place, begging physicians to discern the reason for my “failure to thrive.” I had many eating problems throughout my infant and toddler years, and have been a life-long picky eater. My weight has always been in the bottom percentile on various charts, and there has never been any time where I have ever been able to gain any real weight. Eventually, in my 20s, this vague metabolic disorder led to frequent nausea and vomiting and even greater fatigue than I already felt. I have been cursed with an illness that is debilitating but apparently not imminently life-threatening, so physicians seem to write off my suffering and don't take it seriously. It has caused me significant distress, isolation, and personal turmoil. I would do anything for a chance to be free from all this.”


The patient is making available his full medical record. We’re working to bring the following data together:

  • Clinical Data.

  • Lab Tests.

  • Genomic Sequencing.

  • Exome Sequencing.

  • (Potentially) Microbiome.