Scleroderma Association of BC Research Project
The aim of the SABC Genome Research Project is to identify biomarkers specific to people who have pulmonary fibrosis caused by systemic sclerosis (scleroderma). Being able to distinguish between pulmonary fibrosis that is idiopathic (of various or unknown origin) or the result of scleroderma will allow medical professionals to provide patients with an accurate diagnosis. Identifying reliable biomarkers also provides an opportunity to develop a functional cure; an ongoing treatment that corrects and prevents the disease from continuing to damage the affected organs (in this case, lungs).
SABC funds and co-leads a research study that began recruiting scleroderma patients with and without interstitial lung disease (ILD) in July 2017. Blood samples have also been taken from patients with idiopathic pulmonary fibrosis (IPF) only and both blood and skin samples have been taken from control participants. This research program is creating a firm foundation for intensive research to control lung and skin damage in patients with scleroderma and lung damage in patients with IPF, with the expectation of receiving future support from donations and, hopefully, research funding agencies.
Research Study Progress
Decision to pursue peer review and publication in a biomedical journal regarding the diagnostic panel created with known micro-RNA (miRNA) molecules. Preparation and submission of an application to Providence Health Care Research Institute to resume tissue collection to complete the verification cohort. Creation of a co-authorship partnership with Dr. Marvin Fritzler at the University of Calgary for biomolecular analyses of circulating cytokines and factors to be conducted at Mitogen Advanced Diagnostics Laboratory. Planning for resumption of biomolecular processing for the Project by the core research laboratory at St. Paul’s Hospital.
Preparation and cost quote for next generation sequencing of miRNA molecules in the confirmation cohort.
Identification of target biomolecular pathways for inflammation and calcinosis for miRNA’s in the diagnostic panel of known miRNA’s and plans for supporting laboratory analyses.
Recruitment and sample preparation for verification cohort of miRNA-sequencing and PCR analyses has been placed on hold due to Covid-19. Biostatistical analysis of existing miRNA and clinical data, however, is continuing.
Bioinformatic verification of PCR lab analysis.
Polymerase chain reaction (PCR) lab analysis for biochemical pathway predicted by known-miRNA sequencing.
Approval from University-Industry Liaison Office to publish results for known miRNA’s in medical literature and encouragement to pursue patent protection for novel miRNA’s.
Invention disclosure to UBC, UNBC, and PCH for known miRNA.
Completion of differential expression analysis of known and unknown miRNA sequences in blood, skin, and cultured skin-fibroblasts.
Completion of QC assessment for last third of the samples and QC examination for pilot study of fourth tissue.
Completion of QC assessment for first two-thirds of the samples.
miRNA sequence data downloaded for one-third of the samples and quality control (QC) checks started by the scientific team members.
Frozen tissue samples from three tissue types transferred to the BC Genome Sciences Centre for sequencing.
Extraction of micro-RNA (miRNA) from tissue types.
Skin tissue growth completed.
Collection of blood and skin tissue samples completed and stored in The Scleroderma Biobank at St. Paul’s Hospital in Vancouver.
Commence collection of blood and skin tissues from study participants.
This proof-of-concept study is to discover miRNA sequences and their impact on biochemical processes at the cellular level with the goal of targeted therapeutic interventions to correct the disturbed cycle of regeneration in heart, lung, and skin tissues in scleroderma and lung tissue in IPF. This study is important for the approximately 15,604 Canadians with scleroderma and the approximately 7,045 Canadians with IPF (as confirmed by CT, biopsy, or bronchoscopy). Discovering which miRNA sequences are too low or too high and correcting these imbalances could lead to effective treatment of skin damage in patients with scleroderma and treatment of lung damage in patients with IPF only and in patients with both scleroderma and ILD.
SABC has been behind this project for the last four years. Your donations do make a difference in contributing to research of these two orphan diseases that otherwise would not even be considered by funding agencies.
The research team brings together experts in respirology, rheumatology, bioinformatics, and genetical statistics to uniquely tackle this challenge. The team is led by SABC President Rosanne Queen, SABC past President Bob Buzza, Drs. James Dunne and Kevin Keen. Drs. Raewyn Broady, Robert Holt, Chris Ryerson and Pearce Wilcox round out the scientific research team. Both Rosanne and Bob participate on the leadership team to keep us informed on the progress of this SABC-funded research program and to ensure the interests of patients and their families are at the forefront.