In order to provide the best possible care and services to patients and their families, a number of projects aimed at acquiring equipment and improving facilities have been developed within MUSCO. The goal is to allow patients to benefit from state-of-the-art research, care and rehabilitation equipment. Care and services better adapted to the needs of families will improve their experience and ensure a higher quality of treatment.

MUSCO Projects
Shriners Hospitals for Children — Canada

DNA Sequencing

Project leader

René St-Arnaud Research Director, Shriners Hospitals for Children — Canada

The project

Provide funding for the resources needed for DNA sequencing projects for bone disorders

MUSCO Strategic Goal

Ease the transfer of research innovations to clinics to the benefit of patients.

Project Objectives

  1. 1

    Increase the amount of DNA that can be sequenced

  2. 2

    Identify new genes responsible for metabolic bone diseases

  3. 3

    Accelerate the transfer of research data to clinical contexts (analysis of collected data, exome and in situ analysis)

  4. 4

    Enable subsequent analysis for future generations of patients (whole genome sequencing)

  5. 5

    Develop new tools and new clinical treatments


Progress Report

Progress Report
Progress Report
Progress Report
Progress Report
Progress Report
Progress Report
Progress Report
Progress Report

The DNA Sequencing project supports a cutting-edge clinical program to identify mutations associated with inherited musculoskeletal disorders. This involves sequencing the genomes of patients and their parents, and then analyzing the information to better understand genetic factors and to better diagnose and treat children with metabolic bone diseases.

A gene sequencer and complementary equipment have been acquired to achieve the objectives of this project. The sequencer is now calibrated and operational and a technician has been recruited to ensure equipment operationalization and maintenance. The sequencer has a clinical use, helping in the treatment of families, but it also has a research use, allowing the longer-term optimization of treatments using the collected data.

Some gene panels have already been developed and validated and can now be used for the diagnosis and treatment of patients.

A collaborative venture is born!

CHU Sainte-Justine Shriners Hospitals for Children — Canada

The sequencing project led to more in-depth discussions about the availability of genetic counsellors within the partner institutions, notably the Shriners Hospitals for Children – Canada and the CHU Sainte-Justine. These discussions sparked the idea of recruiting a shared counsellor who would work in clinic with families and support research projects at both hospitals.

As a result, Valancy Miranda was recruited in November 2019. She shares her time between the CHU Sainte-Justine and the Shriners Hospitals for Children – Canada.

Valancy Miranda, MUSCO Genetic Counsellor