CRISPR-based gene therapies for rare diseases

We are interested in establishing collaborations for the development of CRISPR-based therapeutic strategies for rare and ultra-rare genetic diseases, with particular interest in monogenic and autoinflammatory disorders such as Familial Mediterranean fever (FMF).

Our objective is to combine genomic characterization of patients with functional genomics and genome-editing technologies to identify disease-causing variants, investigate their molecular consequences and evaluate strategies for targeted genetic correction. Patient-derived cellular systems could provide a platform for testing editing efficiency, restoration of normal molecular function and disease-associated cellular phenotypes.

Familial Mediterranean fever represents a particularly interesting model for studying genotype–phenotype relationships and developing precision approaches targeting pathogenic variants in MEFV. Beyond FMF, the proposed framework could be extended to other rare monogenic disorders for which conventional pharmacological treatment remains inadequate.

We can contribute expertise in human genetics, population genomics, next-generation sequencing, transcriptomics, bioinformatics, molecular characterization of disease-associated variants, iPSC technologies and functional assays.

We are seeking partners with expertise in CRISPR/Cas genome editing, base and prime editing, delivery technologies, patient-derived cellular models, preclinical studies and translational development of gene therapies.

The long-term objective is to establish collaborative pipelines connecting molecular diagnosis, functional validation and development of personalized genome-editing strategies for rare diseases.