28/04/2026
Ottawa, Ontario — Tuesday April 28, 2026
When doctors notice a child with clear signs of a progressive disease but can’t find the cause, they turn to researchers who combine genetic data with protein and tissue‑level analysis to reveal what traditional testing methods miss.
In a new international study published in Brain Pathology, co‑led by CHEO Research Institute scientist Kiran Polavarapu and Andreas Roos, researchers worked as part of the collaborative Genomic and Proteomic Signatures as a GPS in Neuromuscular Diseases (NMD‑GPS) project to help provide a diagnosis for a teenager with a form of myopathy that had no identifiable cause, even after extensive testing.
“We see many kids and families with a rare disorder who come to us after the usual tests haven’t helped. Multi-omics approaches give us a way to dig deeper and try to explain what’s happening, which can be incredibly meaningful for kids and families who have been searching for answers for a long time.” – Dr. Kiran Polavarapu
The team’s first step – a detailed genetic sequencing – didn’t reveal a clear answer. They then took a deeper look using proteomic analysis, which examines the proteins in the muscle tissue. This analysis uncovered a clue: unusually low levels of the LEMD2 protein, which plays an important role in maintaining the structure of the cell’s nucleus.
Using this new information to guide a targeted re-analysis of the genomic data using the RD-Connect Genome Phenome Analysis Platform, researchers identified two previously unknown variants in the LEMD2 gene that explained the muscle disease, and led to a long‑awaited diagnosis.
Although changes in LEMD2 have been linked to other disorders, this is the first time the gene has been shown to cause myopathy. The study expands how LEMD2‑related disease is understood, highlighting the usefulness of combining genetic and proteomic tools to find answers for rare and complex neuromuscular conditions.