Maria Rosário Almeida
Research Investigator
in Human Genetics
Head of the Laboratory
of Neurogenetics and
Inherited Eye Disorders
Ph.  +351 239 400 400
(ext. 12145)
Fax  +351 239 822 776
Laboratory of Neurogenetics and Inherited Eye Disorders
Activity of the Group
One of the main aims of this group is to widen the range of genetic tests available in neurosciences, focusing mainly on neurodegenerative disorders vision-related disorders and neuro-oncology, particularly for the evaluation of diagnostic and prognostic markers in gliomas.

Therefore, various genetic tests for different diseases have been implemented and have been available for use in clinical settings for a few years. During this period, the team members have acquired experience through the increased number of referrals from different neurology, neurosurgery and ophthalmology departments in the country and this group becomes a reference centre in these areas. Importantly, continuous efforts have been made to ensure that the methodologies and diagnostic strategies used are compatible with current scientific knowledge.

The diverse scientific background of the people with whom this group interacts in a daily basis, which brings together researchers from different faculties of the University of Coimbra as well as from the University Hospitals (CHUC), has been crucial in answering clinical questions and developing translational research based on the genetic findings. This close functional interaction between the laboratory and the clinicians has contributed to improving diagnosis, follow-up and management of patients.
Download of test request forms
Request form for genetic testing of neurodegenerative diseases
Request form for genetic testing of vision related disorders
Instructions for sample collection, required information, samples transportation, reporting times and prices
To download please click here
Group members
Ana Santos
Superior technician

Maria Helena Ribeiro

Ana Cristina Pinheiro
Voluntary researcher
Marta Ribeiro
Voluntary researcher

Financiado por Fundos FEDER através do Programa Operacional Factores de Competitividade – COMPETE 2020 e por Fundos Nacionais através da FCT – Fundação para a Ciência e a Tecnologia no âmbito do projecto Estratégico com referência atribuida pelo COMPETE: POCI-01-0145-FEDER-007440

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