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Maria Rosário Almeida
PhD |
Research Investigator
in Human Genetics |
Head of the Laboratory
of Neurogenetics and
Inherited Eye Disorders |
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Ph. |
+351 239 400 400
(ext. 12145) |
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+351 239 822 776 |
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| 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. Moreover, this Laboratory of Neurogenetics and inherited eye disorders is certified by APCER, Ref No. PT-2011/CEP.3971, and therefore guarantees the high quality standards required for molecular genetic testing.
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.
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| Download of test request forms |
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| Instructions for sample collection, required information, samples transportation, reporting times and prices |
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To download please click here |
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| Group members |
| Ana Santos |
Superior technician
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| Maria Helena Ribeiro |
MSci
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| Ana Cristina Pinheiro |
MSci
Voluntary researcher |
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| Marta Ribeiro |
Voluntary researcher
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