Our solutions
Strategies for three rare genetic disorders
GeneH advances gene therapy toward effective clinical use through targeted research and innovation. We focus on rare genetic diseases with no current treatments, aiming to reduce time-to-patient and increase cross-border capacities.
Mutual Benefits
Researchers
Gain access to infrastructures, joint research platforms and data.
Biotech & Pharma
Benefit from co-development opportunities and innovation roadmaps.
Policy Makers
Develop data-backed models to guide legislation.
Patients & Public
Co-design innovation and access treatments.
Áreas de foco da investigação
Spinocerebellar Ataxia Type 3 (SCA3)
Coordinated by the University of Coimbra, Portugal. Ongoing research focuses on developing innovative therapeutic strategies for SCA3, a rare neurodegenerative disorder caused by a genetic mutation that leads to progressive loss of motor coordination, muscle control, and balance.
CTNNB1 Syndrome Deficiency and Kleefstra Syndrombe
Coordinated by KI with the partners CTNNB1 Foundation and IDedine Foundation, Slovenia Preclinical research is underway to find treatments for genetic conditions such as CTNNB1 deficiency and Kleefstra syndrome. CTNNB1 Syndrome Deficiency is a neurodevelopmental disorder characterized by developmental delays, intellectual disability, muscle tone abnormalities, speech impairment, and distinctive behavioural and physical features Kleefstra syndrome is a developmental disorder marked by intellectual disability, severe speech delay, low muscle tone, distinctive facial features, often accompanied by autism spectrum behaviours.
Innovation Marketplace | Lauching soon
Explore our innovations, connect with stakeholders from industry, academia and public and co-create scalable solutions in biomedicine.
