Research Origin:
Project originates from the Institute of Molecular Genetics of the Czech Academy of Sciences, where long-standing research in molecular dermatology and rare genetic skin disorders led to the development of this technology. The project specifically targets Netherton syndrome, a severe orphan genodermatosis caused by mutations in the SPINK5 gene.
The research was initiated to address the fundamental shortcomings of existing therapeutic approaches, which largely provide symptomatic relief without correcting the underlying molecular defect. From its inception, the project has been developed with a strong translational focus, aiming to convert high-quality academic research into a clinically feasible, safe, and scalable therapeutic solution, suitable even for long-term and pediatric use.
Focus:
The project focuses on a first-in-class topical gene therapy designed to locally restore key biological functions in the skin of patients with Netherton syndrome. In contrast to systemic gene therapies, this approach enables localized gene modulation directly at the site of disease, substantially reducing systemic exposure and associated safety risks.
Key differentiating features include:
- Topical, non-viral gene delivery with localized therapeutic action
- Targeted modulation of disease-driving molecular pathways
- Suitability for repeated and long-term administration
- Strong alignment with orphan-drug development and regulatory pathways
The intended purpose is to deliver a disease-modifying therapy that goes beyond symptomatic management, offering a novel and practical gene-based treatment option for patients with Netherton syndrome and potentially other severe inflammatory or genetic skin diseases.
Research Origin:
Project originates from University Hospital Hradec Králové, building on advanced clinical and translational research in hematology and oncological diagnostics.
The project was initiated in response to a clear clinical need for improved diagnostic tools in multiple myeloma, particularly methods that enable earlier detection and more practical disease monitoring.
The underlying research leverages deep clinical expertise and access to well-characterized patient cohorts, enabling the identification of disease-specific biological signatures detectable in peripheral blood and suitable for diagnostic use.
Focus:
The project focuses on the development of a novel blood-based diagnostic method for the detection and monitoring of multiple myeloma. The technology is designed to improve sensitivity and practicality compared to current standards, which rely heavily on invasive procedures and often lack sufficient performance in early or low-burden disease.
Key differentiators include:
- Minimally invasive, blood-based diagnostic approach
- Enhanced sensitivity for early-stage and low-tumor-burden disease
- Potential use across diagnosis, treatment monitoring, and relapse detection
- Strong clinical relevance and scalability within hematological oncology
The intended purpose is to support earlier diagnosis, improved patient stratification, and more informed clinical decision-making, with the potential to meaningfully improve outcomes for patients with multiple myeloma.
