Good things come in 3s: New publications arising from EU funded collaborations on biomarker research and discovery

We are pleased to have been involved in this trio of papers examining biomarkers and genetic modifiers in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). These studies were based on collaborative work under the BIO-NMD project led led by Alessandra Ferlini and funded by the European Union’s Seventh Framework Program from 2010-2012. Biomarkers are characteristics that can be used to monitor disease progression, response to treatment, and prognosis, while genetic modifiers are genes that can affect the expression of other genes and influence the phenotype of a patient. The discovery of biomarkers and genetic modifiers allows for more personalized treatments and advice to patients. While the publication of these papers may have taken longer than the funding duration, this does demonstrate the ability of research projects to have long-term impact many years following the conclusion of a project.

Capitanio et al., 2020 Showed mechanosensing and metabolic dysfunction as central features of BMD and DMD, with DMD demonstrating further dysregulation in extracellular matrix composition.

Is available open access on the Journal of Cachexia, Sarcopenia and Muscle website.

Spitali et al., 2020 demonstrated that variants in TCTEX1D1 on chromosome 1 were associated with age of ambulation loss.

Is available open access on the European Journal of Human Genetics website.

Signorelli et al., 2019 revealed that serum levels of MDH2 correlated with disease stage and response to treatment with corticosteroids; furthermore, they were associated with the risk of wheelchair dependency and pulmonary function.

Is available open access on the Journal of Cachexia, Sarcopenia and Muscle website.

Picture3

Read next...

Sally describes lab research to FSHD visitors

Lochmüller Lab hosts information session on clinical research for FSHD

On Saturday June 11th we were delighted to welcome individuals and families living with facioscapulohumeral muscular dystrophy (FSHD) and members of the FSHD Society to...
JND-cover

May 2022 Issue of the Journal of Neuromuscular Diseases Available Online

The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its third issue of 2022! In Volume 9, Issue...
CHEO

CHEO Registers Tenth Patient in AMO Reach CDM Clinical Trial

The Lochmüller Lab is excited to share that as of March 14, 2022 our site at the Children’s Hospital of Eastern Ontario (CHEO) has registered...
CNDR_logo-2x3

Canadian Neuromuscular Disease Registry Launches New Congenital Myasthenic Syndrome Registry

We’re delighted to announce that a new registry for patients with congenital myasthenic syndrome (CMS) has just been launched within the Canadian Neuromuscular Disease Registry (CNDR).  This...
Lochmuller Lab at the Rideau Canal, group picture.

Lochmüller Lab Visits World’s Longest Skating Rink

This February the Lochmüller Lab took a break from the research benches at the CHEO RI to visit the Rideau Canal Skateway. A UNESCO world...
JND_V9-i1

January 2022 Issue of the Journal of Neuromuscular Diseases Available Online

The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its first issue of 2022! In Volume 9, Issue...