Manuela Grazina
239 480 038
Assistant Professor FMUC & Researcher at CNC
Group at CNC

Manuela Grazina has a PhD in Biomedical Sciences (area of Biochemical Genetics, 2006), Graduated in Biomedicine (1997), Master in Cell Biology (specialization in Neurogenetics; 2004) and she has a degree in Biochemistry (5 years grade, pre–Bologna, 1991), at the University of Coimbra.
She is Assistant Professor at the Faculty of Medicine, University of Coimbra (FMUC), where she has been teaching since 1996, affiliation since 1997 (Biochemistry, Neurosciences, Pharmacogenomics). She also teachesf Human Genetics at University of Algarve (since 2007-2008), in the scope of Cooperation between Universities; also collaborates with other Faculties / Universities.
She is research member of CNC in close liaison with FMUC, since 1992, presently PI of group “Reverse Translational Biomedical Research in Bigenomic Disorders and Personalized Medicine” in Biomedical Inter-Institutional Research Programme of CNC.
She created the Laboratory of Biochemical Genetics of CNC (at FMUC) and she is its Director since March 1995, where she has established a working team and developed biochemical / genetic tests as tools for reverse translational research / diagnostics, with Services to Community, with international collaborations, namely Baylor College of Medicine (Houston, USA), University of Newcastle upon Type (UK), Mitochondrial Biology Unit - Medical Research Council (Cambridge, UK) and CICAB Clinical Research Centre Extremadura University Hospital and Medical School, (Badajoz, Spain).
She has been Director of Quality of CNC (June 2006 - March 2015), with formation in Normas NP EN ISO 9001 e 19011.
She has been invited by coordinators, to integrate International Research Consortiums: Ibero-American Network of Pharmacogenetics and Pharmacogenomics (CEIBA.FP-RIBEF, since February 2012) and Study Group of coenzyme Q10 deficiencies (since June 2010).
She is member from the Pedagogical Council of FMUC elected in 3rd June, 2015.
She integrates, by invitation, the Scientific Council of “Raríssimas”, since 9th September 2015.



Area of Research: 

Manuela Grazina is specialized in Human Genetics, Biochemical Genetics and Pharmacogenomics, with a major focus in rare diseases, namely mitochondrial cytopathies (“malfunctions of cell energy factory”), and neuropsychiatric disorders (drug addiction and pain).
She organizes scientific meetings, being co -author of 45 "peer -reviewed" publications, including 4 book chapters and 94 abstracts published in proceedings of scientific meetings (majority indexed and peer-reviewed), as well as 530 scientific communications (285 posters, 78 conferences by invitation, 94 oral presentations and 73 talks/seminars of Science Communication. she is responsible for the supervision of 12 PhD theses (5 completed), 36 MSc (34 completed) and 21 monographs (all completed).
She is responsible for the coordination/teaching of 15 Advanced Courses, including in PhD programmes.
She integrates the Teaching board of the PhD Programme of Aging and Chronic Diseases (FMUC, Health Sciences of University of Minho, Faculty of Medical Sciences of University Nova of Lisbon).
She integrates the Teaching board and coordinates a component of formation for medical doctors in the scope of “Cycle of studies in Pediatrics and Neurodevelopment (Aviso nº 10530/2011 - Diário da República, 2ª série, Nº 91, 11 de Maio de 2011), namely in practical formation, which includes the analysis of the Laboratorial strategy in diagnosis of Mitochondrial Cytopathies and aminoacidopathies.
It is relevant to mention the participation in 19 research Projects, being PI in 7.
She has been the winner of the “Bolsa SPDM 2014”, with the project "Unveiling intracellular organelle interaction with mitochondria in Leber Hereditary Optic Neuropathy: functional genomics approach".
In 2005, she has initiated a voluntary project aiming to take science to the School for prevention of addiction, promoting the ability of individual responsibility in choice for preventing the injury caused by drugs of abuse and alcohol, based on information.

Research Summary:
Selected Publications: 

1.    Gaspar R, Santana I, Mendes C, Fernandes AS, Duro D, Simões M, Luís D, Santos MJ, Grazina M (2015). Genetic Variation of MT-ND Genes in Frontotemporal Lobar Degeneration: Biochemical Phenotype-Genotype Correlation. Neurodegener Dis.;15(2):70-80.  IMPACT FACTOR: 3.511

2.    Apellániz-Ruiz M, Inglada-Pérez L, Naranjo MEG, Sánchez L, Mancikova V, Currás-Freixes M, de Cubas AA, Comino-Méndez I, Triki S, Rebai A, Rasool M, Moya G, Grazina M, Opocher G, Cascón A, Ingelman-Sundberg M, Carracedo A, Robledo M, Llerena A, Rodríguez-Antona C (2014). High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme. The Pharmacogenomics Journal advance online publication; doi:10.1038/tpj.2014.67. IMPACT FACTOR: 5.513.

3.    d'Almeida OC, Mateus C, Reis A, Grazina MM, Castelo-Branco M (2013). Long term cortical plasticity in visual retinotopic areas in humans with silent retinal ganglion cell loss. Neuroimage. May 16;81C:222-230. doi: 10.1016/j.neuroimage.2013.05.032. [Epub ahead of print]. IMPACT FACTOR: 7.063

4.    Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q(10) deficiency study group (Maria del Mar O'Callaghana, Cristina Jou, Cecilia Jimenez, Nuria Buján, Mercè Pineda, Angels García-Cazorla, Andrés Nascimento, Belen Perez-Dueñas, Eduardo Ruiz-Pesini, Carl Fratter, Leonardo Salviati, Marta Simões, Cândida Mendes, Maria João Santos, Luisa Diogo, Paula Garcia, Plácido Navas) (2013). Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes. Mitochondrion. Apr 11. doi:pii: S1567-7249(13)00064-0. 10.1016/j.mito.2013.04.001. [Epub ahead of print]. IMPACT FACTOR: 4.108.

5.    Tavares MV, Santos MJ, Domingues AP, Pratas J, Mendes C, Simões M, Moura P, Diogo L, Grazina M (2013). Antenatal Manifestations of mitochondrial disorders. Journal of Inherited Metabolic Disease;36(5):805-11. IMPACT FACTOR: 3.577

Other information: 
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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