Genomic data and diagnostics are transforming the treatment and management of rare diseases. Advances in genomic sequencing, bioinformatics, and precision medicine are enabling faster identification of causative genetic variants, leading to targeted therapies and personalised care plans.
One significant example is the NIHR BioResource, which provides data from over 250,000 volunteers for health-related research. It contributed to the identification of the DIAPH1 gene as a cause of blood disorders. The discovery also revealed links between DIAPH1 variants and hearing loss, allowing for early detection and preventive care in at-risk infants. In cases where hearing loss had already occurred, early diagnosis enabled effective interventions such as cochlear implants.
A recent study of over 740 families with rare diseases found that whole genome sequencing was necessary to detect disease-causing variants missed by other methods. This study highlighted the complementarity of biodata resources such as OMIM, gnomAD, and MITOMAP, which helped define known disease-associated genes and filter genetic variants. Tools like the Genetic Prevalence Estimator (GeniE), developed using gnomAD data, enabled the TANGO2 Research Foundation to identify and address TANGO2-related diseases in populations with specific genetic ancestries.
In another case, South Korean researchers studying Rett syndrome used the Clinical Genome (ClinGen) Resource to identify new gene variants in Korean patients. Their work provided essential data for genetic counselling, helping to address the growing need for support for rare diseases in Korea.
These examples underscore the value of biodata resources in reducing the “diagnostic odyssey” that many patients with rare diseases face. By enabling earlier diagnosis and targeted interventions, these resources are improving the lives of patients and their families, while also informing future research and healthcare policies.