NOTÍCIAS & EVENTOS
Lista candidata à SPGH proposta pela Direção
Sofia Dória – Presidente
Sofia completed her undergraduate degree in Biology, Scientific Field of Specialization, in September 1995 at the Faculty of Sciences, University of Porto. She subsequently obtained a Master’s degree in Human Biology in 1997 at the Faculty of Medicine, University of Porto.
She began her academic career in 2001 as a Teaching Assistant in Medical Genetics, and has been an Assistant Professor since 2010. He PhD in Biomedicine was entitled: “Genetic mechanisms underlying spontaneous abortions: Comparative Genomic Hybridization Analysis and Expression of Genomic Imprinting Genes”.
To date, she has supervised more than 34 undergraduate students, 33 MSc students, and 6 PhD students (3 ongoing). She has led the Cytogenetics Group within the Genetics Unit since 2001. In 2013, she became the course coordinator of “Cytogenetics and the Cell Cycle”, a first-year curricular unit of the Integrated Master in Medicine. She also contributes to Master’s and PhD programs in Medical Schools, as well as delivering invited lectures in various Master’s and postgraduate courses in or outside University of Porto. From 2015 to 2019, she served as Director of the Library of the Faculty of Medicine of the University of Porto, and since 2018 she has been a member of the Editorial Advisory Board of the Porto Biomedical Journal (PBJ). She was Secretary of the Board, Portuguese Society of Human Genetics in 2011-2013 and has been served as Panel Moderator in several Meetings of the Portuguese Society of Human Genetics. In 2025, she became Vice-President of the Regional North Council of the Portuguese Order of Biologists (2025–2029). Her scholarly contributions include approximately 49 peerreviewed publications and around 53 published abstracts, underscoring her significant impact on the scientific community.
Her expertise is in Human Genetics, particularly cytogenetics and cytogenomics, as well as the genetic and epigenetic causes of spontaneous and recurrent pregnancy loss. In recent years, she has focused on studying the role of (epi)genetic mechanisms in idiopathic pregnancy loss and in oocyte maturation. Current research interests include the “Regulation of Endometrial Function by Endogenous Retroviruses” and the project “Epilepsy: A Genomic Approach to Diagnosis and Counseling”.
As coordinator of the Cytogenetics and Cytogenomics area of the Genetics Service at FMUP, a substantial part of her time is dedicated to the clinical activities of the Genetics Uni, supervising genetic studies in prenatal diagnostics and neurodevelopmental disorders, employing Karyotype and microarray-based approaches (SNP microarrays and array comparative genomic hybridization – aCGH).
Ana Rita Soares – Secretária
Ana Rita Soares is currently a Medical Genetics Specialist physician at the Unidade Local de Santo Antonio (ULSSA) since 2020. She conducted her residency at the ULSSA and at the Northern Genetics Service, NHS (Newcastle Upon Tyne, UK). She is currently the head of Immunogenetics, as well as the head of Reproductive and Fetal Medicine in her medical unit. She is also collaborating with Endocrinology and Neurodevelopmental departments with genetic cases. In her clinical practice, she is currently supervising Medical Genetics Residents and has supervised internships from Medical Doctors of other speciality areas. She is currently undertaking her Ph.D. studies at ICBAS – University of Porto in the field Medical Genetics and Bioethics, where she is studying low penetrance copy-number variants, and she is part of Clinical Ethics team from this faculty. Her active demeanour in both clinical and research settings has led to the publication of several peer-reviewed manuscripts in the field of Medical Genetics, many of which first or senior-authored, and to several presentations in national and international meetings, with several awards for her work. She is also an Assistant Lecturer in Genetics and Immunology at the Nursing School of the University of Porto.
She has also been collaborating at Ginemed Portugal Fertility Clinic as the Clinical Geneticist. Lastly, since 2024 she is the responsible of the Genetyca-ICM by Atrys clinical department, where she actively performs diagnostic and research activities on Medical Genetics.
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Medicina Genómica e Personalizada
A medicina genómica pretende mudar a forma como encaramos a saúde. O objetivo é a possibilidade de vir a oferecer diagnósticos mais precisos e tratamentos personalizados, com base na interpretação do genoma individual, para prevenir doenças e reações adversas a fármacos.
O Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) e a Agência de Investigação Clínica e Inovação Biomédica (AICIB), na sequência do Despacho n.º 5135/2021 do Secretário de Estado Adjunto e da Saúde, exarado em 13/5/2021 e publicado no DR de 20/5/2021, encontram-se de momento a desenvolver a Estratégia Portuguesa para a Medicina Genómica (PT_MedGen), com o apoio da Direção Geral para Reformas Estruturais (DG REFORM) da Comissão Europeia, sendo a NTT DATA e a Technopolis as empresas selecionadas para apoiar a operacionalização do projeto.
A SPGH foi contactada pela NTT Data que solicitou, como contribuição da sociedade, a resposta a um questionário. O dito questionário e as respostas da direção da SPGH podem ser consultadas aqui.
Posição da SPGH sobre a criação da profissão de Aconselhador Genético
Em resposta ao pedido de apoio no processo de reconhecimento da profissão de Aconselhador Genético em Portugal, a SPGH dá a conhecer os vários documentos e pareceres que podem ser consultados abaixo:
1_PedidoReconhecimentoAG-08-05-2023
OAconselhadorGenetico_12factos
2_1º Parecer SPGH_aconselhador genético_Jun23_PJ_JF_CO
8_2º Parecer Apoio à criação da profissão de aconselhador genético_V5 Final_SPGH_JP_CO_SS