TL1: Neurological and Vision Disorders

Neurological and Vision disorders are major causes of disability and death worldwide. Due to the expanding population numbers and ageing, the social and economic burden associated with these disorders will continue to substantially increase in the incoming years. For instance, stroke is the first cause of death and disability in Portugal and the second in Europe. During ageing and disease, cells are exposed to increased levels of stress which damages various proteins and other biomolecules. The accumulation of aggregated proteins and other "indigestible material" is often toxic and can lead or contribute to cell and tissue damage. Elimination of damaged proteins is tightly regulated and involves a variety of proteolytic systems and the lysosomal network, including autophagy. Cellular stress and its consequences is a major focus of fundamental research within TL1. At the physiological level, conditions that underlie several forms of dementia, including chronic neuro-inflammation and neuro-protective mechanisms such as pre-conditioning are also under investigation.

Covering the most prevalent neurological diseases, including cerebrovascular (RG8: Stroke and Neuroprotection), neurodegenerative diseases such as Alzheimer's and Parkinson's (RG9: Neurophysiology and Degeneration and RG7: Neuro-inflammation), as well as retinal degenerations, including age-related macular degeneration (AMD) and diabetic retinopathy (DR) (RG6: Retinal Ageing and Disease); TL1 fulfils the main objective of iN4H as it aggregates both fundamental and clinical researchers and scientists working in advanced technological tools (RG1: Cell Bioprocesses for Advanced Therapies and RG2: Molecular Biomarkers and Diagnosis) leveraging translational approaches to medical care. Three of the RGs (covering stroke, dementia, AMD and DR) already comprise an ideal mix of fundamental and clinical research creating "Clinical Translation Groups"; RG9 is currently recruiting clinicians hoping to achieve a similar mix in a few years.

The main associated clinical services are the Neurology Service of the CHLO, the Internal Medicine Service of HFF and the Ophthalmology Service of the CHLC.

Overall, there is a strong focus on improving patient care and attempting to provide novel diagnostic and therapeutic options. In particular, the retina has emerged as an excellent system given its small size, easy access and visualization, and although important it is not vital. Gene therapy will continue as an important focus while stem cell-based regenerative approaches are under development. The contribution of RG1 and RG2 is critical to advance these novel therapeutic approaches.