02/12/2025
Ottawa, Ontario — Tuesday December 2, 2025
Genetic testing is more available than ever before, yet patients and families with rare diseases still face challenges when trying to find a diagnosis. Often, the genetic cause is present in the original test results but isn’t recognized. As scientists continue to discover new disease genes and interpretations, reanalyzing those same samples can lead to a diagnosis that wasn’t possible before.
A study from the international Solve-Rare Diseases Consortium (Solve-RD) published in Nature Medicine united multi-disciplinary experts from across Europe and Canada to re-analyze data from over 6,000 families with previously unsolved rare diseases, providing more than 700 successful diagnoses.
“Even with the new next-generation-sequencing based tests, it’s not uncommon for people who have a genetic test not to get a diagnosis the first time their data is analysed, which can happen as often as half of all of cases.” said Dr. Lochmüller. “What this work clearly shows is that by looking at the data again in more depth after some time, we can take advantage of all the new knowledge that has been gained in the meantime and we might find the cause of disease in an additional 10% of cases.”
Under the guidance of Hanns Lochmüller and coordination of senior lead Ana Töpf, CHEO RI postdoc Kiran Polavarapu led the reanalysis of the neuromuscular disease (NMD) cohort of 1,500 families, providing 138 successful diagnoses.
The infrastructure and collaborative networks set up by Solve-RD are accessible to doctors and researchers worldwide and are a promising blueprint for future international efforts to end the diagnostic odyssey and provide genetic diagnosis to families and kids with a rare disease.
“This work is a huge achievement by a large group of people across Europe and my group in Canada, and it’s only possible thanks to important infrastructures like RD-Connect, Solve-RD and ERDERA in Europe and the Canadian Care4Rare and Genomics4RD initiatives led by Dr. Kym Boycott here in Ottawa, which allow us to share and analyse data internationally and find solutions for families across the world.”