Research Pipeline

Santo Therapeutics is dedicated to innovative drug discovery and development, focusing on addressing unmet medical needs globally in oncology and neurological disorders. The company is advancing a differentiated pipeline through two core technological platforms: in vivo gene therapy and in vivo CAR-T cell therapies, targeting a broad spectrum of diseases including cancer and autoimmune disorders. Key programs in the R&D pipeline address complex therapeutic challenges such as neurofibromatosis type II (currently lacking effective treatments), brain tumors, and thoracic malignancies, with the mission to deliver groundbreaking therapeutic options for patients worldwide.

Neurofibromatosis type 2 (NF2) is a hereditary disease caused by mutations in the NF2 gene, classified under neurological disorders. The NF2 gene is located on chromosome 22 and encodes a tumour suppressor protein known as Merlin. NF2 is an autosomal dominant genetic disease with an incidence rate of approximately 1 in 25,000 people, exhibiting significant familial inheritance.

The right figure shows a pathogenic mechanism of NF2——in Merlin-deficient cells, CRL4^DCAF1 promotes the ubiquitination of Lats1/2, inhibiting the phosphorylation of YAP and preventing its inactivation.This allows YAP to enhance the expression of TEAD-dependent pro-proliferative genes, ultimately leading to tumor formation.

NF2 gene

NF2 gene mutations lead to the loss of Merlin protein function. Merlin is a tumor suppressor protein that regulates cell proliferation and adhesion, inhibiting excessive cell growth.

Normally, Merlin inhibits tumor formation by affecting cell signaling pathways. However, NF2 gene mutations cause Merlin to lose function, leading to abnormal cell proliferation and tumor formation.

Mutation Type

NF2 gene mutations include point mutations, deletions, insertions, and gene rearrangements, which lead to loss or abnormal expression of the Merlin protein, impairing its ability to suppress tumors.

Varied mutation types and locations affect clinical presentation, but all mutations result in the loss of Merlin function.

Disease Symptoms

NF2 primarily presents as bilateral vestibular schwannomas (neuromas), cortical brain tumours, and other central nervous system tumours.Patients typically develop symptoms in adolescence or early adulthood, such as hearing loss, tinnitus, balance issues, vision problems, and headaches.

NF2 causes hearing and nerve damage, severely impacting patients' quality of life.