"Advances in Early Diagnosis and Molecular Screening for Joubert Syndrome"
- Progress in whole-exome sequencing (WES) and neuroimaging has significantly improved the accuracy of Joubert Syndrome (JS) diagnosis, enabling identification of causative mutations in over 35 genes, including CEP290, TMEM67, and AHI1
- The characteristic “molar tooth sign” (MTS) on MRI, combined with WES, confirms diagnoses in 62–97% of cases, even in clinically heterogeneous presentations
- Early detection, often in infancy, facilitates timely interventions like physical therapy and respiratory support, reducing long-term disabilities such as ataxia and developmental delay. Initiatives like the NIH’s Rare Disease Clinical Research Network (RDCRN) are enhancing awareness, funding studies, and improving access to genetic counseling, particularly for underserved populations
- For instance, a 2024 NIH RDCRN study used WES to diagnose JS in 95% of 50 pediatric patients, identifying novel CPLANE1 variants and enabling early occupational therapy to improve motor outcomes
- Advances in early diagnosis and molecular screening are transforming the Joubert Syndrome treatment landscape by enabling precise, timely interventions and driving research into targeted therapies
- The integration of WES, advanced neuroimaging, and NIH RDCRN initiatives is revolutionizing early diagnosis of Joubert Syndrome, enhancing patient outcomes and fueling market growth through improved intervention strategies
