Neurogenetics Laboratory develops and implements genetic tests 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 clinicians’ needs in their daily practice. Genetic testing assists clinicians with selecting the appropriate therapeutic strategy, improving prognosis and management of neurological diseases. Neurogenetics Laboratory also offers genetic counselling through predictive tests on patient’s family members. In view of the crescent number of requests from the different Neurology, Neurosurgery, and Ophthalmology Services of the country, this Laboratory has become a reference center in these areas. A continuous effort has been made to keep-up-date the used diagnostic methodologies and strategies with the rapid evolution of the scientific knowledge from studies of these disorders.
The multidisciplinary team of investigators from the distinct faculties of Universidade de Coimbra and the Centro Hospitalar e Universitário de Coimbra (CHUC), with whom the Laboratory contacts, has been crucial to answer the clinical questions and for the development of a translational investigation based on the acquired scientific knowledge for these disorders.
Only through an holistic approach of these disorders, it is possible to improve the life quality of patients and their families in an effective and assertive manner.