Clinical and Experimental Human Genomics

Group leader

Principal Investigator

Team members

Ana Gonçalves, MSc

Laboratory Technician

    Ana Maria FT Fortuna, MD

    Clinical Researcher

      Bárbara Oliveira, PhD

      Integrated PhD researcher

        Bárbara Rodrigues, MSc

        PhD student

          Carla Maria Carmona, PhD

          Integrated PhD researcher

            Cecília Silva, BSc

            MSc Student

              Célia Azevedo Soares, MD, PhD

              Integrated PhD researcher

                Cristina Candeias, MSc

                Laboratory Researcher

                  Dulce Quelhas, MSc

                  PhD Student

                    Emília Vieira, MSc

                    Laboratory researcher

                      Esmeralda Martins, MD, PhD

                      Integrated PhD researcher

                        Flávia Santos, BSc

                        MSc Student

                          Isabel Marques, PhD

                          Integrated PhD researcher

                            Isaura Ribeiro, MSc

                            Laboratory Specialist

                              Joana Damásio, MD

                              PhD Student

                                Lúcia Lacerda, PhD

                                Integrated PhD researcher

                                  Mª João Nabais Sá, MD, PhD

                                  Integrated PhD researcher

                                    Mª Manuela S.F. Almeida, MSc

                                    Clinical Researcher

                                      Manuela Mota Freitas, MSc

                                      Laboratory Researcher

                                        Márcia Oliveira, PhD

                                        Integrated PhD researcher

                                          Mariana R. Pereira, MSc

                                          PhD Student

                                            Mónica Gouveia, MSc

                                            Intern

                                              Natália Oliva-Teles, PhD

                                              Integrated PhD researcher

                                                Natália Santos Ferreira, PhD

                                                Integrated PhD researcher

                                                  Nuno Maia, MSc

                                                  PhD Student

                                                    Rosário Santos, PhD

                                                    Integrated PhD researcher

                                                      Sílvia Álvares, MD

                                                      Clinical Researcher

                                                      Director Pediatric Cardiology Service, CHUP

                                                        Introduction

                                                        The Clinical and Experimental Human Genomics group (CEHG) is integrated in a healthcare provider institution and was established in 2013, gathering key individuals in the field of clinical genetics that work together towards the development of human genomics research, at both basic and translational levels, with direct impact and benefit of patients and ultimately the healthcare service.

                                                        This group aims to understand the importance of heredity and the consequences of genetic disease in the general population, specific ethnic groups, whole families at risk and single individuals. Ongoing research main goals include improvement of the molecular, biochemical and clinical understanding of chromosomal abnormalities, neuromuscular and metabolic disorders, with a focal point in intellectual disabilities. These experimental areas are interlinked and share technological, clinical as well as bioinformatic resources. Complementary to the above a new line of research in bioethics has been recently initiated. In strict collaboration with the more experimental teams, are the clinical collaborators that include Nutrition and Psychology specialists. They will continue to support their patients’ healthcare and their research work in the setting of the Medical Genetics consultations. Researchers are also involved in setting up multidisciplinary education modules for scientific dissemination activities in their expertise area as well as for Clinical Laboratory and Medical Genetics specializations. The organizational structure, involving efforts from multidisciplinary teams, including all medical specialities, allows availability of better procedures, processes simplification and minimizing the resources needed. Overall, CEHG research projects result in a continuing development of the diagnostic trajectory in the endeavour to find more effective treatment and improve genetic counselling.


                                                        Aims

                                                        Translational research specific goals in genomics include:

                                                        • Identification of new syndromes and solving cases of rare genetic disorders with implications in the molecular diagnosis and improvement of the disease characterization;
                                                        • Establish new therapeutical approaches and patient registry and databases;
                                                        • Development and implement new diagnostic tests to screen for inherited metabolic diseases, chromosomal anomalies and neuromuscular disorders, cardiomyopathies, female reproductive function decline, neurological, neurogenerative and neurodevelopmental impairment, lysosomal, peroxisomal and glycosylation disorders in Portuguese high risk populations. Results of this research are often used in retrospective clinical studies, reviews and clinical trials
                                                        • Create bioinformatic tools to improve the in silico assessment of pathogenicity for genomic variants
                                                        • Follow-up of individuals with phenylketonuria and rare genetic syndromes in terms of nutritional and neurocognitive assessment for dietetic treatment management as well as research.
                                                        FOCUS AREAS:
                                                        • Rare syndromes
                                                        • Mental and neuromuscular disorders, inborn errors of metabolism
                                                        • Molecular and biochemical causes of genetic diseases
                                                        • Nutrition, Dietetics
                                                        • Medical Ethics
                                                        • Medical Biotechnology:
                                                          • Technologies – Manipulation of Cells, Tissues, Organs or the Whole Organisms
                                                          • Technologies – Identification of the Functioning of DNA, Proteins and Enzymes and its relation with the Disease
                                                          • BioBanking, Registries and databases, Bioinformatic tools development

                                                        Highlighted publications

                                                        1. Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758
                                                        2. Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G. MAN1B1 deficiency: an unexpected CDG-II. PLoS Genet. 2013;9(12):e1003989. doi: 10.1371/journal.pgen.1003989
                                                        3. Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M,Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59

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