Vanessa

Collaborators

Thank you to everyone who played a role in our first patient cohort.

Patient Summary

Vanessa is a desmoid tumor patient who’s case remains unresolved. Since she was diagnosed in 2011, Vanessa has been on 9 drugs and/or treatments. Her case is unique because she still lacks a molecular diagnosis for desmoid tumor and has run out of known clinical options. As a public facing patient, Vanessa is making her personal health data open to the scientific community to help create new insights for her case. She documents her medical and spiritual journey on her blog, tiny healer.

Vanessa writes a blog about her experience, Tiny Healer.
She was recently featured on Techtopia with Chitra Ragavan - Ep. 7 — How a patient with a rare tumor is taking personalized medicine to a new level through a unique non-profit biomedical research initiative
The Stubborn Patient: Design Your Health Like a Product

Introduction

Research to the People is a collaborative research program works with patients seeking therapeutic options beyond standard of care.We generate deep sequencing and multiomics data for our patients and welcome scientific and medical collaborators to join our cases.

We invite all scientists, researchers and medical professionals with intermediate to advanced experience to participate in Vanessa's case. Research to the People's cases are Open Participation, Open Data and Open Results. Submitted analysis will remain accessible via GitHub and through this site.

Goals

The primary and most important goal here is to help Vanessa, focusing on:

Tumor Elimination: Stabilization and Reduction
Wound Closure
Long-Term Suppression

What to Expect

Collaborate, learn and build biomedicine skills with other leading researchers, engineerings and medical professionals. Most of all, help a real patient.

Publication

Upon completion, the research conducted for this case will be shared via peer reviewed publication. All collaborators will be included on the paper.

Tissue

The following tissue is available for this case:

2018 Primary Tumor Resection, FFPE
2019 Mets Resectiin 2019, Fresh Frozen
2020 Core Biopsey, FFPE
Blood
PBMC's

Existing Medical Data

Access provisioned in Secure Folder, Waiver Required

Clinical Summaries

Detailed Clinical Summary
Detailed Clinical Timeline

Medical Reports

UCSF Reports
Kaiser Reports
OSU Reports
MSK Reports

Sequencing

100x WGS DNA Whole Blood and Tumor

Imaging

Access provisioned in Secure Folder, Waiver Required:

March 2021 MRI
June 2021 MRI
June 2021 CT
Photographs of wound

Data Generated by RTTP@Stanford

Access provisioned in Secure Folder, Waiver Required:

Personalis ImmunoID NeXT DNA and RNA-seq
- 2018 Whole Blood and Tumor;
- 2021 Whole Blood and Drainage Sample
- ImmunoID NeXT covers;
- T-cell receptor (TCR) alpha & beta repertoire
- Neoantigen detection and neoantigen load
- Tumor mutational burden (TMB)
- Microsatellite instability (MSI) characterization
- Human leukocyte antigens (HLA) typing, HLA and beta-2 microglobulin (B2M) somatic mutations, and HLA loss of heterozygosity (LOH)
- Tumor escape and resistance mechanisms
- Oncoviral detection
- Familial Sequencing
- T cell and B cell sequencing
- Single cell RNA-seq
Teiko Bio
- Toku Profile

Analysis Needs Matrix

Access provisioned in Secure Folder, Waiver Required: View Analysis Needs Matrix.

Early Work

Pre-analysis for Vanessa's case was hosted over the summer at Hack4Rare, an annual Hackathon produced by Children's Tumor Foundation, MIT Hacking Medicine and Sage Bionetworks. We hosted a track at this event where researchers collaborated on re-analyzing Vanessa's existing clinical data. Read their work here.

As more data comes online we will continue to organize collaborative analysis. We're excited for you to join us as we work on solving Vanessa's case!

Resources and Readings

The following resources and readings have been compiled by the Desmoid Tumor Research Foundation:

The following were determined to be relevant for Vanessa's case. Please feel free to send us additional papers to include here:

Sponsors and Collaborators

Thank you to our supporters who helped with data generation and analysis our first patient cohort at Stanford Medicine.