A novel algorithm has been developed that increases the diagnosis rate of rare diseases
One of the primary challenges faced by individuals affected by rare diseases is the timeliness of their diagnosis. Diagnosing such patients often tends to be extended in time, leading to a delay in receiving the appropriate care and treatment. This hold can significantly deteriorate their health and quality of life. To address this issue, it becomes imperative to develop innovative tools. Recently, a research team from CIBERER published an article in the journal Genome Medicine introducing a groundbreaking computational algorithm named ClinPrior. This algorithm can potentially enhance diagnostic rates in patients with rare genetic diseases.
One of the problems with current diagnostic tools is their reliance on patient phenotypic data, which refers to observable traits such as facial features, enzyme deficiencies, height, or cognitive abilities, to establish associations with specific genes. However, there is still a significant gap in our knowledge regarding the genes stored in biomedical databases, including their actual functions. ClinPrior addresses this issue through a two-step process: initially, it leverages standardised phenotypic characteristics of the patient based on the Human Phenotype Ontology to categorise candidate variants (genes that may be causing the disease). Subsequently, it uses a network of protein interactions to propagate data and identify the variants with a higher likelihood of causing the pathology.
The algorithm was tested with 135 families affected by two rare neurodegenerative diseases, hereditary spastic paraplegia, and cerebellar ataxia. Remarkably, it achieved a positive diagnosis rate of 70%, twice the rate achieved by current diagnostic tools. Furthermore, thanks to ClinPrior, the research team has established a dedicated interaction network for these two neurological disorders, paving the way for future diagnoses and the discovery of novel disease-causing genes.
Dr. Aurora Pujol, the project's leader, emphasises the significant leap forward that ClinPrior represents in the clinical genomic diagnosis of rare diseases. It not only expedites the diagnostic process but also provides valuable insights into atypical cases and unveils new genes responsible for diseases. The study also included the participation of Dr. Carme Fons, a pediatric neurologist at Sant Joan de Déu Hospital.
*Original source: Un nuevo algoritmo clínico aumenta la tasa de diagnóstico de las enfermedades raras
