Hypophosphatasia

This research collaboration is supported through your contributions and donations.

 
 

INTRODUCTION

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. Hypophosphatasia is our 4th genomics research hackathon, and marks the launch of our formalized program “Research to the People.” In May 2019 we will bring together a group of Engineers and Researchers to look for answers and create medical insights for GiGi, and a cohort of patients with similar co-existing conditions.

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). Currently underway: Undiagnosed #1.

PURPOSE

  • 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 an thriving community for open, collaborative biomedicine.

BACKGROUND

Gigi is a 22 year old, Chinese/Asian female who has an inherited degenerative bone condition. She has provided this background:

“Coming soon”

DATA

The patient is making available his full medical record, including:

  • Clinical Data.

  • Lab Tests.

  • Genomic Sequencing.

  • Exome Sequencing.

  • MRI Scans.

STRUCTURE

This event is structured as a week long research hackathon starting Monday May 27th 2019 (tentative) and ending Sunday May 31st. Note, this is not an overnight event, participants traveling from out of town will need to arrange housing in the area.

TIMELINE

Applications to participate open:

Deadline for Partnerships and Sponsorships:

Early access to data for pre-formed teams:

Data and Tools Prep workshop for accepted participants:

Hackathon Main Event:

Follow up Dinner and Continuing research discussion: