Dr. Hanns Lochmüller and collaborators have made the first step towards a “treatabolome” – a database that links treatable rare diseases to treatment options. There are over 7000 rare diseases, and a small but growing number are treatable. However, it’s impossible for physicians to be experts in every rare disease and keep up with new treatment options. This means effective treatments may be delayed or missed altogether. Dr. Lochmüller and his team think a computer-aided system might be able to help specialists match a patient’s rare disease with the latest evidence on how to treat it. The team performed a systematic review of 207 studies on a group of often-treatable neuromuscular conditions called congenital myasthenic syndromes. In collaboration with bioinformatics experts, this is being developed into a proof-of-concept database that will allow potentially treatable genetic variants to be flagged when a patient is diagnosed. They hope to apply this concept to all rare neuromuscular disorders in future studies. Other rare disease groups are interested in applying the same principles. Read more about the study.
“If a treatment does exist for a rare disease, we want to be able to offer it right at diagnosis. We think a computerized database of treatable rare diseases could help achieve this.” -Dr. Hanns Lochmüller, neurologist and senior scientist at CHEO, associate scientist and neurologist at The Ottawa Hospital, professor at the University of Ottawa
Co-authors: Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller
Source: Emerging Topics in Life Sciences
Funding: EU FP7 RD-Connect, U.K. Medical Research Council, Horizon 2020 Solve-RD
About the CHEO Research Institute
The CHEO Research Institute coordinates the research activities of CHEO and is affiliated with the University of Ottawa. Its three programs of research are molecular biomedicine, health information technology, and evidence to practice research. Key themes include cancer, diabetes, obesity, mental health, emergency medicine, musculoskeletal health, electronic health information and privacy, and genetics of rare disease. The CHEO Research Institute makes discoveries today for healthier kids tomorrow. The CHEO Research Institute’s work in genetics has been supported by Genome Canada, CIHR and the Canada Foundation for Innovation. For more information, visit www.cheori.org.
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