The Neurogenetics Laboratory develops and implements genetic testing for neurological diseases (Alzheimer’s Disease, Frontotemporal Dementia, Fatal Familial Insomnia, Parkinson Disease, Amyotrophic Lateral Sclerosis, Small Vessel Diseases, Cerebral Cavernous Malformations, and Gliomas) according to the needs of clinicians in their daily practice.
Genetic testing assists clinicians in selecting the appropriate therapeutic strategy, improving prognosis and management of neurological disorders.
The Neurogenetics Laboratory also offers genetic counselling through predictive testing of patients’ family members. Given the crescent number of requests from the different neurology, neurosurgery and ophthalmology services in the country, this laboratory has become a reference centre in these areas.
The multidisciplinary team of researchers from the different faculties of the University of Coimbra and the Centro Hospitalar e Universitário de Coimbra (CHUC), with whom the Laboratory is in contact, has been crucial in answering the clinical questions and in developing a translational investigation based on the scientific knowledge acquired for these disorders.
