Gorlin Syndrome. Condition caused by mutations in PTCH1 and characterized by the development of basal cell carcinomas and other tumors, as well as skeletal abnormalities. Our analysis shows very few gaps, which is not unexpected, considering the availability of therapies for this condition. But as the existing therapies are not curative, Gorlin Syndrome may be fertile ground for the development of advanced therapeutics. March 19, 2026.
ADSSL1 Myopathy. Mutations in the ADSSL1 gene, which encodes adenylosuccinate synthetase 1, affect purine metabolism and energy production in muscle cells. Our analysis shows that multiple gaps remain across the different domains that we evaluate, starting with a limited understanding of disease biology. March 16, 2026.
Alström Syndrome. Multi-system disorder caused by mutations in the ALMS1 gene. Our analysis indicates that important gaps remain in understanding disease mechanisms and in the identification of the ideal modality to develop a therapeutic. March 12, 2026.