Human Genome Variation and Environment in Health and Disease

Isabel Marques Carreira

PhD, Principal Investigator

Understanding genetic predisposition to disease and knowledge of lifestyle modifications that change the potential for disease is necessary to make informed choices. This multidisciplinary line promotes and disseminates fundamental, translational and clinical scientific research having as main vectors the interaction environment-individual in developmental disorders, aging-related chronic diseases, and cancer. Using in vitro and in vivo biological systems, the approach is transversal from the cellular and molecular mechanisms to new biomarkers and therapeutic targets, allowing an effective personalized medicine. We aim to understand the impact of genetic/epigenetic factors and environmental/microenvironment exposures on health and on the susceptibility and course of the conditions investigated. An important focus is to study genotypes, transcripts, methylation markers, proteins and metabolites together with environmental risk factors and clinical information as powerful tools to understand the human variability and networks underlying diseases.

This multidisciplinary approach includes study of human genome variability, identification of new biomarkers, essential for disease risk and outcome prediction and to identify new therapeutic targets translating into clinical research. We integrate complex information from multiple data sources generating a usable output to support prevention, diagnostic, prognostic, and interventions. To accomplish these goals, our multidisciplinary group has researchers with strong expertise in basic, translational and clinical investigation and bioinformatics. Furthermore, we work in close contact with institutions involved in developmental and genetic disorders and cancer diagnosis and treatment, such as CHUC, IPO Coimbra and Centro Académico Clínico. Our scientific background and technology platforms are collaboratively used by other members of the Metabolism, Aging and Disease line, as well as others.

Group Members

Group Members

Group members are: Isabel Marques Carreira (PhD, Coordinator), Ana Bela Sarmento Ribeiro (MD PhD, Co-Coordinator), Filomena Botelho (MD PhD, Co-Coordinator), Ana Cristina Gonçalves (PhD), Ana Filipa Brito (PhD), Ana Luísa Areia (MD, PhD), Ana Margarida Abrantes (PhD), Ana Salomé Lourenço (PhD), Ana Sofia Coelho (PhD), Anabela Paula (PhD), Arnaldo Figueiredo (MD PhD), Artur Paiva (PhD), Bárbara Oliveiros (PhD), Belmiro Parada (MD, PhD), Catarina Geraldes (MD PhD), Célia Gomes (PhD), Emília Cortesão (MD, PhD), Eunice Carrilho (DMD, PhD), Fernando Regateiro (MD, PhD), Fernando Mendes (PhD), Francisco Caramelo (PhD) Francisco Corte-Real (MD, PhD), Henrique Alexandrino (MD, PhD), Henriqueta Silva (MD, PhD), Ilda Ribeiro (PhD), Jorge Saraiva (MD, PhD), José Guilherme Tralhão (MD, PhD), José Manuel Nascimento Costa (MD, PhD), José Manuel Casanova (MD, PhD), Lélita Santos (MD, PhD), Mafalda Laranjo (PhD), Manuel Ferreira (DMD, PhD), Margarida Gonçalo (MD, PhD), Maria Amélia Pereira (MD PhD), Maria Joana Melo (PhD), Maria João Carvalho (MD, PhD), Maria Letícia Ribeiro (MD, PhD), Paula Alves (MD, PhD), Paula Laranjeira (PhD), Raquel Alves (PhD), Rui Alves (MD, PhD), Victor Rodrigues (MD, PhD).

PhD Students: Ana Esmeralda Costa, Ana Sofia Pais, Ana Sofia Coelho, André Lázaro, André Ribeiro, Andreia Monteiro, Beatriz Serambeque, Catarina Guilherme, Carlos Cordeiro, Carlos Miguel Marto, Daniela Silva, David Castelo, Domingos Roda, Edgar Silva, Inês Marques, Inês Amaro, Joana Ribeiro, Joana Jorge, João Casalta, João Mendes, José Carlos Cardoso, José Pedro Carda, Karla Cardoso, Leonor Barroso, Liliana Santos, Margarida Coucelo, Maria del Carmen Sierra, Marta Pereira, Paulo Santos, Ricardo Teixo, Ricardo Martins, Rui Pedro Oliveira, Sílvia Martins, Teresa Sevivas, Tarcísio Guimarães.

Selected Publications

Alves R, Gonçalves AC, Jorge J, Marques G, Luís D, Ribeiro AB, Freitas-Tavares P, Oliveiros B, Almeida AM, Sarmento-Ribeiro AB. MicroRNA signature refine response prediction in CML. Sci Rep. 2019 Jul 4;9(1):9666. doi: 10.1038/s41598-019-46132-9. (FI =3.998, Q1) P 93

Laranjo M, Campos Aguiar M, Pereira NAM, Brites G, Nascimento BFO, Brito A, Casalta-Lopes J, Gonçalves AC, Sarmento-Ribeiro AB, Piñeiro M, Botelho MF, Pinho e Melo TMVD. Platinum (II) ring-fused chlorins as efficient theranostic agents: Dyes for tumor-imaging and photodynamic therapy of cancer. European Journal of Medicinal Chemistry. 2020. 200:112468. doi: 10.1016/j.ejmech.2020.112468. (FI=5.572, Q1) P 92

Martins-Neves SR, Paiva-Oliveira DI, Fontes-Ribeiro C, Bovée JVMG, Cleton-Jansen AM, Gomes CMF. IWR-1, a tankyrase inhibitor, attenuates Wnt/β-catenin signaling in cancer stem-like cells and inhibits in vivo the growth of a subcutaneous human osteosarcoma xenograft. Cancer Lett 2018 1;414:1-15. doi: 10.1016/j.canlet.2017.11.004. (FI =7.36, Q1) P 92

Ribeiro IP, Melo JB, Carreira IM. Cytogenetics and Cytogenomics Evaluation in Cancer. Int. J. Mol. Sci. 2019, 20(19), 4711. (FI =4.556, Q1) P 80

Sarmento-Ribeiro AB, Scorilas A, Gonçalves AC, Efferth T, Trougakos IP. The emergence of drug resistance to targeted cancer therapies: Clinical evidence. Drug Resist Updat. 2019 Dec;47:100646. doi: 10.1016/j.drup.2019.100646. (FI=11.000, Q1) P 99

Selected Grants/Projects

Red Transfronteriza de Innovación en Diagnóstico Precoz de Leucemia para un envejecimiento saludable – IDIAL-NET Portugal e Espanha - Interreg-POCTEP, 2019/2021).

New diagnostic and therapeutic tools against multidrug resistant tumors - COST action CA17104, COST, 2018/2022.

ONCONET SUDOE - Reseau Europeen de Recherche translationnelle et d'Innovation en oncologie. Ref. SOE1/P1/F0082. INTERREG SUDOE.

BrainHealth2020: Early Detection, Neuromodulation and Advanced Therapies to Brain Disorders. Reference: SAICT 000008 BrainHealth 2020.

MED4Youth - Mediterranean enriched diet for tackling youth obesity. PRIMA. FCT.

International Network for Translating Research on Perinatal Derivatives into Therapeutic Approaches (SPRINT). COST Action CA17116, COST, 2018-2022.

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