Biology and Genetics of Reproduction/Molecular and Cellular Medicine (MCM)

Group leader

Principal Investigator

Team members

Ana Lúcia Cardoso, MD

Medical Intern

    Ângela Alves, BSc

    Laboratory Technician

      Carla Leal, MSc

      Embryologist

        Carla Mónica Fernandes, MSc

        Psychologist

          Carolina Silva, MSc

          MSc student

            Catarina Dias, MD

            Graduated Healthcare Assistant - Pneumology

              Elsa Oliveira, MSc

              Laboratory Technician

                Gonçalo Mendes, MD

                PhD student

                  Jorge Oliveira, PhD

                  Integrated PhD Researcher

                    Márcia Barreiro, MD

                    Graduated Healthcare Assistant - Gynecology & Obstetrics

                      Maria Gonçalves

                      Medical student

                        Mariana Pereira

                        Medical student

                          Paula Susana Pinto Almeida, MSc

                          PhD student

                            Paula Teixeira, MSc

                            Laboratory Technician

                              Pedro Saraiva

                              Medical student

                                Rosália Sá, PhD

                                Integrated PhD Researcher

                                  Rute Pereira, PhD

                                  Integrated PhD Researcher

                                    Silviana Ribeiro

                                    Medical student

                                      Sofia Coelho, MSc

                                      PhD student

                                        Telma Barbosa, MD

                                        PhD student

                                          Tiago Santos, MD

                                          PhD student

                                            Introduction

                                            The BGR&MCM group is involved in translational research in the field of human biology and genetics. Ongoing research is in human reproduction, human toxicology, oncofertility, biology and genetics of ciliopathies, human biology and genetics, and molecular and cellular medicine, under active collaboration with several hospital centres and research institutes, national and international.

                                            The group performs external clinical diagnosis of ciliopathies, hematologic and reproductive pathologies to Hospitals.

                                            The group is actively engaged in student advance training and dissemination of scientific knowledge.


                                            Aims

                                            The main goal of the BGR&MCM group is to coordinate research efforts intended to clinical based research.

                                            Main research areas:

                                            -Outcomes in Assisted Reproduction treatments.

                                            -Biology and genetics of human reproduction.

                                            -Human sperm toxicology.

                                            -Oncofertility.

                                            -Biology and genetics of ciliopathies.

                                            -Human biology and genetics

                                            -Molecular and cellular medicine

                                            Diagnostics:

                                            -Cilia diseases: Transmission electron microscopy, HSV (high-speed video microscopy) and NGS (next generation sequencing).

                                            -Platelet diseases: Transmission electron microscopy.

                                            -Oocyte abnormal morphology and developmental arrest: Transmission electron microscopy and NGS (next generation sequencing).

                                            -Sperm immotility and abnormal morphology: Transmission electron microscopy, and NGS (next generation sequencing).

                                            Consulting:

                                            – Implementation of new techniques and technologies in reproductive centres.

                                            – Patient infertility evaluation for full diagnosis and treatment advice.

                                            – Diffusion of knowledge on reproductive medicine.

                                            – Diffusion of knowledge on ciliopathies.

                                            – Diffusion of knowledge on Oncofertility.


                                            BGR&MCM in numbers

                                            International communications: > 442

                                            International publications: > 530

                                            SCI (citations): > 7000

                                            Projects: 25 (1 under evaluation)

                                            Master students: 39 (2 ongoing)

                                            PhD students: 30 (5 ongoing)

                                            Pregraduated teaching: > 200 (5 ongoing)

                                            Prizes and nominations: > 60

                                            Teaching: 6 (5 as ruler)


                                            Keywords

                                            Human infertility, Human biology and genetics, Molecular and cellular Medicine, Ciliopathies, Sperm toxicology, Oncofertility


                                            Outreaching society contributions through translated research

                                            Over the past years, the members of this group gave major contributions to improve health care assistance and patients wellbeing. Specifically, for the first time, we had described the mechanism for successful intracytoplasmic sperm injection and that underlies the human oocyte activation after fertilization (in collaboration with France). Further, in collaboration with France, we contributed to the first human birth after intracytoplasmic sperm injection with male gamete in different differentiation stages namely with round spermatids and immature elongated spermatids, as well as, with novel methods, explicitly with a method for total immotile sperm in intracytoplasmic sperm injection and intracytoplasmic sperm injection using electroejaculation in a man with spinal cord injury. Our collaboration with France had also resulted in the achievement of the first human embryos obtained by somatic cloning.

                                            Additionally, members of our group actively worked to accomplish the first human births after preimplantation genetic diagnosis for Portuguese familiar amyloidotic neuropathy and to achieve for the first time important medical and scientific advances, namely: the first Portuguese human ovarian tissue transplantation, the first development of a system to support in vitro differentiation of spermatocytes into spermatids, the first determination of a new method for cryopreservation of human spermatogonial stem cells, the first description of male germ cells imprinting defects, the first description of the AZFa locus and that its deletion causes Sertoly only syndrome (with Germany), the first description of the AZFc locus and the DAZ region and that microdeletion of DAZ1 causes severe oligozoospermia with progressive evolution to azoospermia (with Germany), the first mice obtained after somatic cloning using zona-free oocytes (with Scotland), first descriptions of several human oocyte dimorphisms, the first application of stereologic methods to the study of immature human oocytes, first description of new gene mutations causing congenital absence of the vas deferens (CFTR-CBAVD), first description of new gene mutations causing human sperm total immotility, first description of new gene mutations causing primary ciliary dyskinesia and situs inversus totalis, first description of new gene mutations causing neuromuscular diseases, first determination of the molecular mechanisms elicited by different medicines (antineoplastic agents, others) over the human sperm structure and DNA integrity, first characterization of a new method for human sperm purification, first determination of new human sperm fragmentation patterns.


                                            Highlight publications:

                                            1. Tesarik J, Sousa M. Key elements of a highly efficient intracytoplasmic sperm injection technique: Ca2+ fluxes and oocyte cytoplasmic dislocation. Fertility and Sterility. 1995; 64(4):770-776.
                                              IF: 6.312; SCI: 125
                                              Doi: https://doi.org/10.1016/s0015-0282(16)57853-4
                                              URL: https://pubmed.ncbi.nlm.nih.gov/7672149/
                                            2. Fernandes S, Huellen K, Gonçalves J, Dukal H, Zeisler J, de Meyts ER, Skakkebaek NE, Habermann B, Krause W, Sousa M, Barros A, Vogt PH. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Molecular Human Reproduction. 2002; 8(3):286-298.
                                              IF: 3.636; SCI: 222
                                              DOI: https://doi.org/10.1093/molehr/8.3.286
                                              URL: https://academic.oup.com/molehr/article/8/3/286/994821
                                            3. Marques CJ, Carvalho F, Sousa M, Barros A. Genomic imprinting in disruptive spermatogenesis. Lancet. 2004; 363 (9422):1700-1702.
                                              IF: 60.392; SCI: 357
                                              DOI: https://doi.org/10.1016/S0140-6736(04)16256-9
                                              URL: https://pubmed.ncbi.nlm.nih.gov/15158633/
                                            4. Sá R, Cunha M, Silva J, Luís A, Oliveira C, Teixeira da Silva J, Barros A, Sousa M. Ultrastructure of tubular smooth endoplasmic reticulum aggregates in human MII oocytes and clinical implications. Fertility and Sterility. 2011; 96 (1): 143-149, 149.e1-149.e7.
                                              IF: 6.312; SCI: 69
                                              DOI: https://doi.org/10.1016/j.fertnstert.2011.04.088
                                              URL: https://pubmed.ncbi.nlm.nih.gov/21621206/
                                            5. Sá R, Cunha M, Rocha E, Barros A, Sousa M. Sequential sperm preparation technique and deoxyribonucleic acid fragmentation in relation to sperm parameters and morphological staining patterns in infertile males. Reproductive BioMedicine Online. 2015: 31(4):506-515.
                                              IF: 3.218; SCI: 19
                                              Doi: https://doi.org/10.1016/j.rbmo.2015.06.019
                                              URL: https://pubmed.ncbi.nlm.nih.gov/26278809/
                                            6. R. Pereira, J. Oliveira, M. Oliveira, R. Santos, E. Oliveira, T. Barbosa, T. Santos, P. Gonçalves, L. Ferraz, Soraia Pinto, A. Barros, M. Sousa. Characterization of CCDC103 profiles: further insights in primary ciliary dyskinesia and in human reproduction. Journal of Assisted Reproduction and Genetics. 2019; 26(8);1683-1700.
                                              IF: 2.82; SCI: 7
                                              DOI: https://doi.org/10.1007/s10815-019-01509-7
                                              URL: https://pubmed.ncbi.nlm.nih.gov/31273583/
                                            7. Rute Pereira, Telma Barbosa, Ângela Alves, Rosário Santos, Jorge Oliveira, Mário Sousa (2020). Unveilling the genetic etiology of primary ciliary dyskynesia: when standard genetic approach is not enough. Advanced Medical Sciences. 2020; 65(1):1-11
                                              IF: 2.570; SCI: 2
                                              DOI: https://doi.org/10.1016/j.advms.2019.10.003
                                              URL: https://www.sciencedirect.com/science/article/pii/S189611261930013

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