JORGE DIOGO CRUZ RAMOS DA SILVA (2D11-AC25-2B5F)

Curriculum Vitae

JORGE DIOGO CRUZ RAMOS DA SILVA

Jorge Diogo da Silva is currently a Medical Genetics Resident at the Centro Hospitalar e Universitário do Porto, and a Ph.D. researcher at the School of Medicine, University of Minho. Throughout his career, he has engaged in several research activities, such as an Internship at Harvard Medical School/Massachusetts General Hospital, where he worked on genetic modifiers of Huntington's disease, and a continuous collaboration at the Life and Health Science Research Institute (ICVS; Braga, Portugal), studying the function and importance of Phospholipase D for neurodegenerative diseases. He has pursued his Ph.D. studies at the ICVS in collaboration with Thomas Jefferson University (Philadelphia, USA), as well as with Columbia University (New York, USA), where he carried out part of his doctoral work. His Ph.D. thesis is focused on the topic of Neurogenetics, where he explored the usefulness of nematode models to study neurogenetic diseases, in both fundamental and translational perspectives. He has presented his work in several international meetings, having been awarded several scholarships, as well as the prize for Best Hot Chair presentation at the 7th Ataxia Investigators Meeting. He has also collaborated and took part in research studies in both Fundamental and Clinical Medicine, currently with published work in Epigenetics, Stem Cell Research, Neuroscience and Clinical Neurology. Moreover, he is currently involved in teaching activities in the field of Genetics, for both medical, psychology and post-graduate students. He has also participated in entrepreneurship activities, integrating the IdeaLab program for business ideas (University of Minho) and the winning team of the 2015 SpinUM Business Idea contest (University of Minho). Finally, he has also undertaken post-graduate training in Clinical Trial Regulation and Biostatistics. After his General Residency training at the Hospital of Santa Maria Maior - Barcelos, he is now undertaking the residency in Medical Genetics at the Centro Hospitalar Universitário do Porto. His ultimate goal is helping patients directly, as well as contributing to scientific progress with laboratory and clinical research.

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Identification

Personal identification

Full name: JORGE DIOGO CRUZ RAMOS DA SILVA

Citation names

DA SILVA, JORGE D.

Author identifiers

Ciência ID: 2D11-AC25-2B5F
ORCID iD: 0000-0001-7863-0406
Researcher Id: AAK-4033-2020

Email addresses

jorge.dcr.silva@gmail.com (Professional)
jorge.diogo.silva@chporto.min-saude.pt (Professional)

Telephones

Telephone

253604835 (Professional)
226070351 (Professional)

Addresses

Campus Gualtar, Universidade do Minho, 4710-057, Braga, Braga, Portugal (Professional)
Praça Pedro Nunes, 88, 4099-028, Porto, Porto, Portugal (Professional)

Knowledge fields

Medical and Health Sciences - Basic Medicine - Human Genetics
Medical and Health Sciences - Basic Medicine - Neurosciences
Medical and Health Sciences - Clinical Medicine - Other Clinical Medicine Subjects
Medical and Health Sciences - Health Sciences
Natural sciences - Biological Sciences - Molecular Biology

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
Portuguese (Mother tongue)
English	Proficiency (C2)	Proficiency (C2)	Proficiency (C2)	Proficiency (C2)	Proficiency (C2)
Spanish; Castilian	Intermediate (B1)	Advanced (C1)	Elementary (A2)	Advanced (C1)	Intermediate (B1)
French	Elementary (A2)	Intermediate (B1)	Elementary (A2)	Intermediate (B1)	Elementary (A2)

Education

	Degree	Classification
2022/01/01 - 2026/12/31 Ongoing	Internato de Genética Médica (Título de especialista) Major in Genética Médica Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2024/09/21 - 2024/11/16 Concluded	Fundamentals of Data Science in Healthcare: Applications with R (Pós-Graduação) Universidade Nova de Lisboa Escola Nacional de Saúde Pública, Portugal	20/20
2023/06 - 2023/12 Concluded	Diagnostic, Clinical & Therapeutic Education Programme on Inherited Metabolic Disorders (Pós-Graduação) European Reference Networks, Belgium
2022/09/05 - 2022/09/09 Concluded	Basics in human genetic diagnostics - A course for CLGs in education (Postgraduate Certificate) European Society of Human Genetics, Austria
2022/05/02 - 2022/05/07 Concluded	Genética Médica e Laboratorial (Pós-Graduação) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal	20/20
2021/09/29 Concluded	Human and Mammalian Genetics and Genomics: The 62nd McKusick Short Course (Postgraduate Certificate) Major in Human and Mammalian Genetics The Jackson Laboratory, United States
2016/09 - 2021/05 Concluded	Medicina (Doutoramento) Major in Neurogenetics Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal Columbia University Irving Medical Center, United States Thomas Jefferson University, United States "Insights from Caenorhabditis elegans models into neurogenetic disorders of the motor system: from fundamental to translational research" (THESIS/DISSERTATION)
2011/09/18 - 2020/07/10 Concluded	Medicina (Mestrado integrado) Universidade do Minho, Portugal
2020/07 Concluded	IFOM - Clinical Sciences (Postgraduate Certificate) National Board of Medical Examiners, United States
2016 - 2017 Concluded	IdeaLab – Business Idea Lab (Outros) TecMinho Associação Universidade-Empresa para o Desenvolvimento, Portugal
2017 Concluded	Clinical Research: from regulation to practice (Pós-Graduação) Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal	Approved w/ Distinction & Honors
2015/12 Concluded	Cambridge English Level 3 Certificate in ESOL International (Proficiency) (Outros) University of Cambridge, United Kingdom	Grade A
2002 - 2015 Concluded	Music Theory and Piano (Outros) Fundação INATEL, Portugal
2015 Concluded	Summer School (PAPSummer Program) (Outros) Harvard Medical School, United States Massachusetts General Hospital, United States

Affiliation

Teaching in Higher Education

	Category Host institution	Employer
2023/11/02 - Current	Invited Assistant Professor (University Teacher)	Universidade do Minho Escola de Medicina, Portugal

Other Careers

	Category Host institution	Employer
2022/01/01 - Current	Interno (Médica)	Centro Hospitalar Universitário do Porto EPE, Portugal
	Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2021/01/01 - 2021/12/31	Interno (Médica)	Hospital Santa Maria Maior EPE, Portugal

Projects

Grant

	Designation	Funders
2016/09/01 - 2020/09/01	Insights from Caenorhabditis elegans models into neurogenetic disorders of the motor system: from fundamental to translational research PD/BD/128074/2016 PhD Student Fellow Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal	Fundação para a Ciência e a Tecnologia Ongoing

Contract

	Designation	Funders
2022/03/01 - Current	Dissecting the mechanism of action of TUDCA as a therapeutic for SCA3 NA Researcher Universidade do Minho Escola de Medicina, Portugal	National Ataxia Foundation Ongoing
2019/01/01 - 2019/12/31	ICVS/3B¿s - Laboratório Associado, Instituto de Ciências da Vida e da Saúde / Grupo de Investigação em Biomateriais, Biodegradaveis e Biomiméticos UID/Multi/50026/2019 Universidade do Minho, Portugal Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal	Fundação para a Ciência e a Tecnologia Concluded

Outputs

Publications

Conference abstract	DA SILVA, JORGE D.. "Learning is a lifelong experience: lessons from 30 years of the portuguese Fanconi anemia cohort". Paper presented in 27ª Reunião Anual SPGH, 2025. Published DA SILVA, JORGE D.. "Disruption of POGZ and syndromic intellectual disability: report of 4 Portuguese cases". Paper presented in 27ª Reunião Anual SPGH, 2025. Published DA SILVA, JORGE D.. "The role of genetic counselling in presymptomatic genetic testing: lessons from familial amyloidosis polyneuropathy (FAP)". Paper presented in 27ª Reunião Anual SPGH, 2025. DA SILVA, JORGE D.. "Genetic counselling and carrier screening: 4-year experience of the first public gamete bank in Portugal". Paper presented in 27ª Reunião Anual SPGH, 2025. DA SILVA, JORGE D.. "Application of the ABC classification system in a clinical case of Marbach-Schaaf syndrome". Paper presented in 27ª Reunião Anual SPGH, 2025. DA SILVA, JORGE D.. "Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V". Paper presented in 2024 Annual Meeting of the Society for the Study of Inborn Errors of Metabolism, 2024. Published DA SILVA, JORGE D.. "Impact of structural GLA protein changes on peripheral GLA activity and substrate accumulation in Fabry disease patients.". Paper presented in 2024 Annual Meeting of the Society for the Study of Inborn Errors of Metabolism, Porto, 2024. Published Soares, Ana Rita; DA SILVA, JORGE D.; Carvalho, Ana Sofia. "The Portuguese State of Art for Low Penetrance CNVs in the Prenatal Setting". Paper presented in UPDATES in Fetal Medicine, Lisbon, 2023. Published
Conference poster	DA SILVA, JORGE D.. "Minimizing invasive diagnostic procedures through unconventional genetic testing in McCune-Albright syndrome". Paper presented in 28th Annual SPGH Meeting, 2024. DA SILVA, JORGE D.. "Illustrating the impact of clinical-laboratory integration in the diagnosis and treatment of inborn errors of cobalamin metabolism". Paper presented in 28th Annual SPGH Meeting, 2024. DA SILVA, JORGE D.. "Non-invasive prenatal testing for the detection of low-expressivity mosaic trisomy 21". Paper presented in 28th Annual SPGH Meeting, 2024. DA SILVA, JORGE D.. "Navigating the uncertainty of mosaicism: a systematic review of prenatal mosaic trisomy 21 cases". Paper presented in 2024 Annual APDPN Meeting, 2024. DA SILVA, JORGE D.. "Síndrome Hereditária de Predisposição para Cancro: Diagnóstico incidental durante o período pré-natal no contexto de anomalia nefro-urológica fetal". Paper presented in 2024 Annual APDPN Meeting, 2024. DA SILVA, JORGE D.. "Cascade family screening in BRCA1/2 cancer susceptibility syndromes: hits and misses from 5 years of experience". Paper presented in BRCA Clinical Challenge 2024, 2024. DA SILVA, JORGE D.. "Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V". Paper presented in 2024 Annual Meeting of the Society for the Study of Inborn Errors of Metabolism, 2024. DA SILVA, JORGE D.. "Isolated follicle-stimulating hormone (FSH) deficiency in male sex: case report". Paper presented in 2024 Congresso Português de Endocrinologia, 2024. DA SILVA, JORGE D.. "Learning is a lifelong experience: lessons from 30 years of the portuguese Fanconi anemia cohort". Paper presented in 27ª Reunião Anual SPGH, 2023. DA SILVA, JORGE D.. "Disruption of POGZ and syndromic intellectual disability: report of 4 Portuguese cases". Paper presented in 27ª Reunião Anual SPGH, 2023. DA SILVA, JORGE D.. "The role of genetic counselling in presymptomatic genetic testing: lessons from familial amyloidosis polyneuropathy (FAP)". Paper presented in 27ª Reunião Anual SPGH, 2023. DA SILVA, JORGE D.. "Genetic counselling and carrier screening: 4-year experience of the first public gamete bank in Portugal". Paper presented in 27ª Reunião Anual SPGH, 2023. DA SILVA, JORGE D.. "Application of the ABC classification system in a clinical case of Marbach-Schaaf syndrome". Paper presented in 27ª Reunião Anual SPGH, 2023. DA SILVA, JORGE D.. "Rastreio Oncológico em Cascata: Sucessos e Insucessos em 5 Anos de Experiência". Paper presented in 20º Congresso Nacional de Oncologia, 2023. Vilasboas-Campos, Daniela; Lopes, J; Ferreira-Lomba, Bruna; DA SILVA, JORGE D.; Costa, Marta Daniela; et al. "Unveiling Promising Compounds for Boosting Proteostasis: A Rapid Whole-Animal Organism Phenotypic Assay". Paper presented in EMBO Workshop: "Proteostasis: From translation to degradation"., 2023. Meireles-Costa L; Duarte-Silva, S; Neves-Carvalho, Andreia; Silva, Joana Margarida; Monteiro-Fernandes, Daniela; Correia, Joana Sofia; Rodrigues, Bruno; et al. "ATXN3-mediated deubiquitylation of splicing factors regulates neuronal mRNA splicing and tau isoform ratio ATXN3 regulates SRSF7 levels and Tau ratio". Paper presented in EMBO Workshop: "Proteostasis: From translation to degradation"., 2023. DA SILVA, JORGE D.. "A paradoxical endeavor in genetic syndromes of non-muscular actin: absence of the typical actinopathy immune dysregulation". Paper presented in International Primary Immunodeficiencies Congress 2023, 2023. DA SILVA, JORGE D.. "Progressive familial intrahepatic cholestasis type 3: a new likely pathogenic variant of ABCB4 gene". Paper presented in United European Gastroenterology Week 2023, 2023. Vilasboas-Campos, Daniela; Lopes, J; Ferreira-Lomba, Bruna; DA SILVA, JORGE D.; Costa, Marta Daniela; Maciel, Patrícia; Teixeira-Castro, Andreia. "FastProtAct - FAST-throughput phenotypic assay to identify compounds with PROTeostasis ACTivity.". Paper presented in International Society of Neurochemistry (ISN) and the European Society of Neurochemistry (ESN) meeting, 2023. DA SILVA, JORGE D.. "Deletion of histone-coding genes and fetal malformations: the first prenatal description of Rahman syndrome caused by a complex chromosomal deletion.". Paper presented in CMIN Summit 2023, 2023. DA SILVA, JORGE D.. "Identification of novel molecules with proteostasis enhancement activity using a whole-animal based fast-throughput phenotypic assay". Paper presented in 6th Symposium on Medicinal Chemistry of the University of Minho, 2023. DA SILVA, JORGE D.. "Establishing an objective clinical spectrum and genotype-phenotype correlations and CRMP1 as a modifiers in the Ellis-van Creveld syndrome: the first systematic review of EVC and EVC2-associated conditions.". Paper presented in European Human Genetics Conference 2023, 2023. DA SILVA, JORGE D.. "Hipogonadismo hipogonadotrófico familiar - descrição de dois irmãos com síndrome cúbito-mamária". Paper presented in Reunião Anual SEDP-SPP 2023, 2023. Pereira, Ângela; Mendes, Amélia; Ribeiro, Adriana; DA SILVA, JORGE D.; Chorão, Rui. "Encefalopatia por mutação no gene CHD2 com crises sensíveis a padrões". Paper presented in "17º Congresso da Sociedade Portuguesa de Neuropediatria", 2023. DA SILVA, JORGE D.; Soares, Ana Rita; Fortuna, Ana Maria; Tkachenko, Nataliya. Corresponding author: DA SILVA, JORGE D.. "Establishing an objective clinical spectrum and genotype-phenotype correlations in the Ellis-van Creveld syndrome: the first systematic review of EVC and EVC2-associated conditions.". Paper presented in 26ª Annual SPGH Meeting, 2022. DA SILVA, JORGE D.; Duarte-Silva, Sara; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana; et al. "The Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022. DA SILVA, JORGE D.; Duarte-Silva, S; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana; et al. "Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022. Soares, Ana Rita; DA SILVA, JORGE D.; Mota, Maria do Céu; Fortuna, Ana Maria; Soares, Fátima; Guedes-Martins, Luís; Tkachenko, Nataliya. "Complexo Esclerose Tuberosa: desafio no diagnóstico e aconselhamento em pré-natal". Paper presented in Complexo Esclerose Tuberosa: desafio no diagnóstico e aconselhamento em pré-natal, 2022. Vilasboas-Campos, D; Lopes J; Bruna Ferreira-Lomba; DA SILVA, JORGE D.; Costa, Marta Daniela; Maciel, Patrícia; Castro, Andreia Cristiana Teixeira; et al. "Chemical screening for novel therapeutic target identification in Machado-Joseph disease". Paper presented in 35th ECNP Congress, 2022. Vilasboas-Campos, Daniela; Lopes, J; Ferreira-Lomba, Bruna; DA SILVA, JORGE D.; Costa, Marta Daniela; Maciel, Patrícia; Teixeira-Castro, Andreia; et al. "Development of a high-throughput phenotypic assay to screen for chemical enhancers of proteostasis activity in Caenorhabditis elegans". Paper presented in International Neuroscience Conference at the Federation of European Neuroscience Societies (FENS), 2022. DA SILVA, JORGE D.; Soares, Ana Rita; Fortuna, Ana Maria; Tkachenko, Nataliya. Corresponding author: DA SILVA, JORGE D.. "Rare hormones in a rare disease: the mutational spectrum of the GNAS gene". Paper presented in Reunião Anual SEDP-SPP 2022, 2022. Cristina Candeias; DA SILVA, JORGE D.; Nataliya Tkachenko; Manuela Mota Freitas; Elisa Lopes; Natália Oliva-Teles. Corresponding author: Natália Oliva-Teles. "A familial case of the chromosome 1q21.1 deletion syndrome: the relevance of accurate cytogenetic testing for genetic counselling". Paper presented in 16º Congresso da Sociedade Portuguesa de Neuropediatria, 2022. Meira Carvalho, Filipa; DA SILVA, JORGE D.; Matos, Diana; Pinto, Joana; Rodrigues, Margarida. "Impact of the COVID-19 pandemic in the neurology clinical practice". Paper presented in Congresso de Neurologia 2020, 2020. Meira Carvalho, Filipa; DA SILVA, JORGE D.; Araújo, José; Matos, Diana; Pinto, Joana; Rodrigues, Margarida. "Opicapone in Parkinson’s Disease – a centre’s real-life experience". Paper presented in Congresso da Sociedade Portuguesa de Doenças do Movimento 2020, 2020. Meira Carvalho, Filipa; DA SILVA, JORGE D.; Araújo, José; Matos, Diana; Pinto, Joana; Rodrigues, Margarida. "Opicapone in Parkinson’s Disease – a centre’s real-life experience". Paper presented in MDS Virtual Congress 2020, 2020. Meira Carvalho, Filipa; Silva, Ana Rita; DA SILVA, JORGE D.; Pinto, Joana; Matos, Diana; Amorim, José Manuel; Alves, José Nuno; Pinho, João; Ferreira, Carla. "Cervical Artery Dissection: a recurrence analysis". Paper presented in 14º Congresso Português do AVC, 2020. Meira Carvalho, F.; DA SILVA, JORGE D.; Araújo, J.; Matos, D.; Pinto, J.; Rodrigues, M.. "Opicapone in Parkinson’s Disease – a centre’s real-life experience". Paper presented in 6th Congress of the European Academy of Neurology, 2020. DA SILVA, JORGE D.. "A glucocorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease". Paper presented in ISN-ASN 2019 Meeting, 2019. Duarte-Silva, S; DA SILVA, JORGE D.; Neves-Carvalho, Andreia; Raposo, M; Soares-Cunha, Carina; Correia, JS; Nogueira-Gonçalves, G; et al. "A Glucorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease". Paper presented in European Behavioral Pharmacology Society 2019, 2019. Costa, Marta Daniela; DA SILVA, JORGE D.; Almeida, Dulce; Pereira-Sousa, Joana; Teixeira-Castro, Andreia; Maciel, Patrícia. "Anti-aging genetic manipulation in C. elegans impact differentially in Machado-Joseph disease". Paper presented in Workshop on "Strategies & tools for modulating pathologic protein self-assembly in proteinopathies", 2019. Pereira-Sousa, Joana; Jalles, Ana; Vilasboas-Campos, Daniela; Ferreira-Lomba, Bruna; DA SILVA, JORGE D.; Varney, Mark A.; Newman-Tancredi, Adrian; Maciel, Patrícia; Teixeira-Castro, Andreia. "Targeting of the Serotonin (1A) Receptor Suppresses Mutant Ataxin-3 Pathogenesis in C. elegans". Paper presented in 2019 International Ataxia Research Conference (IARC), 2019. Pereira-Sousa, Joana; Jalles, Ana; Vilasboas-Campos, Daniela; Ferreira-Lomba, Bruna; DA SILVA, JORGE D.; Varney, Mark A.; Newman-Tancredi, Adrian; Maciel, Patrícia; Teixeira-Castro, Andreia. "Targeting of the Serotonin (1A) Receptor Suppresses Mutant Ataxin-3 Pathogenesis in C. elegans". Paper presented in 2019 International MJD Research Conference, 2019. DA SILVA, JORGE D.. "Genetic and pharmacological modifiers of ATXN3 proteotoxicity converge to antioxidant response pathways". Paper presented in 7th Ataxia Investigators Meeting, 2018. Francisca Vaz Bravo; DA SILVA, JORGE D.; Chan, Robin Barry; Di Paolo, Gilbert; Teixeira-Castro, Andreia; Oliveira, Tiago Gil. "The impact of PLD functional ablation in an Alzheimer's disease Caenorhabditis elegans model". Paper presented in 47th Society for Neuroscience, 2017. Francisca Vaz Bravo; DA SILVA, JORGE D.; Chan, Robin Barry; Di Paolo, Gilbert; Teixeira-Castro, Andreia; Oliveira, Tiago Gil. "The impact of phospholipase D functional ablation in physiology and in disease models in Caenorhabditis elegans". Paper presented in XV Meeting of the Portuguese Society for Neuroscience, 2017. DA SILVA, JORGE D.. "Phospholipase D as a modulator of body size and longevity". Paper presented in 7th Minho Medical Meeting, 2014.
Journal article	Costa, Marta Daniela; DA SILVA, JORGE D.; Almeida, Dulce; Pereira-Sousa, Joana; Vilasboas-Campos, Daniela; Fernandes, Jorge Humberto; Teixeira-Castro, Andreia; Maciel, Patrícia. "Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3". Mechanisms of Ageing and Development 225 (2025): 112064. https://doi.org/10.1016/j.mad.2025.112064. 10.1016/j.mad.2025.112064 Salazar, Luís; Araújo, Sara Alves; Correia, Mário Rui; DA SILVA, JORGE D.; Matos de Figueiredo, Catarina; Prior, Catarina; Amaral, Claúdia; et al. "Rare case of ACTH-independent Cushing syndrome: diagnostic challenges and management". Journal of Pediatric Endocrinology and Metabolism 38 7 (2025): 772-778. https://doi.org/10.1515/jpem-2025-0056. 10.1515/jpem-2025-0056 DA SILVA, JORGE D.; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita. Corresponding author: DA SILVA, JORGE D.. "Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating". Journal of Medical Genetics (2025): jmg-2024. https://doi.org/10.1136/jmg-2024-110144. Published • 10.1136/jmg-2024-110144 Correia, Sandra Ribeiro; Guedes, Tiago Pereira; DA SILVA, JORGE D.; Tkachenko, Nataliya; Pedroto, Isabel. ""Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene"". Clinics and Research in Hepatology and Gastroenterology 49 1 (2025): 102494. https://doi.org/10.1016/j.clinre.2024.102494. Published • 10.1016/j.clinre.2024.102494 Kleinendorst, Lotte; Abawi, Ozair; Vos, Niels; van der Valk, Eline S.; Maas, Saskia M.; Morgan, Angela T.; Hildebrand, Michael S.; et al. "GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity". Clinical Obesity 14 4 (2024): https://doi.org/10.1111/cob.12661. Published • 10.1111/cob.12661 Nunes, Isabel Serra; DA SILVA, JORGE D.; Abreu, Maria; Prior, Ana Catarina; Fortuna, Ana; Tkachenko, Natalia; Soares, Ana Rita. "Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases". Acta Scientific Paediatrics (2024): 05-09. https://doi.org/10.31080/aspe.2024.07.0661. 10.31080/aspe.2024.07.0661 Duarte-Silva, S; DA SILVA, JORGE D.; Monteiro-Fernandes, Daniela; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; et al. "Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3 (IF: 19.47)". The Journal of Clinical Investigation (2024): Published Jorge Diogo Da Silva; Ângela Pereira; Ana Rita Soares; Arlindo Guimas; Sara Rocha; Márcio Cardoso; Cristina Garrido; et al. "Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V". Pediatric Research (2023): https://doi.org/10.1038/s41390-023-02943-1. 10.1038/s41390-023-02943-1 DA SILVA, JORGE D.; Tkachenko, Nataliya; Soares, Ana Rita. "Ellis-van Creveld Syndrome". GeneReviews (2023): Published Jorge Diogo Da Silva; Isaura Ribeiro; Carla Caseiro; Eugénia Pinto; Sónia Rocha; Helena Ribeiro; Célia Ferreira; et al. "Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients". Endocrine, Metabolic & Immune Disorders - Drug Targets (2023): https://doi.org/10.2174/1871530323666230914114414. 10.2174/1871530323666230914114414 Pereira, Ângela; Tkachenko, Nataliya; Fortuna, Ana Maria; Alonso, Isabel; Cardoso, Márcio; DA SILVA, JORGE D.. "An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy". Neurological Sciences (2023): http://dx.doi.org/10.1007/s10072-023-06867-w. Published • 10.1007/s10072-023-06867-w Jorge Diogo Da Silva; Ana Rita Soares; Ana Maria Fortuna; Nataliya Tkachenko. "Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions". Genetics in Medicine Open (2023): https://doi.org/10.1016/j.gimo.2023.100781. 10.1016/j.gimo.2023.100781 DA SILVA, JORGE D.; Oliva-Teles, Natália; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso. Corresponding author: David, Dezso. "A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large Dup(2)(q14.3q21.1)". Biomedicines 11 1 (2022): 12. http://dx.doi.org/10.3390/biomedicines11010012. Accepted • 10.3390/biomedicines11010012 DA SILVA, JORGE D.; Gonzaga, Diana; Barreta, Ana; Correia, Hildeberto; Fortuna, Ana Maria; Soares, Ana Rita; Tkachenko, Nataliya. Corresponding author: DA SILVA, JORGE D.. "Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication". Biomedicines 10 12 (2022): 3078. http://dx.doi.org/10.3390/biomedicines10123078. Accepted • 10.3390/biomedicines10123078 Dantas, Mayla A. A.; DA SILVA, JORGE D.; Tkachenko, Nataliya; Paneque, Milena. "Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service". Journal of Community Genetics (2022): http://dx.doi.org/10.1007/s12687-022-00618-8. Accepted • 10.1007/s12687-022-00618-8 Cláudia Antunes; Jorge D. Da Silva; Sónia Guerra-Gomes; Nuno D. Alves; Eduardo Loureiro-Campos; Luísa Pinto; C. Joana Marques. "Tet3 Deletion in Adult Brain Neurons of Female Mice Results in Anxiety-like Behavior and Cognitive Impairments". Molecular Neurobiology (2022): https://doi.org/10.1007/s12035-022-02883-7. 10.1007/s12035-022-02883-7 Jalles, Ana; Vieira, Cármen; Pereira-Sousa, Joana; Vilasboas-Campos, Daniela; Mota, Ana Francisca; Vasconcelos, Sara; Ferreira-Lomba, Bruna; et al. "Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans". Biomedicines 10 2 (2022): 370. http://dx.doi.org/10.3390/biomedicines10020370. 10.3390/biomedicines10020370 DA SILVA, JORGE D.; Costa, Marta Daniela; Almeida, Bruno; Lopes, Fátima; Maciel, Patrícia; Teixeira-Castro, Andreia. "Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders". Frontiers in Neurology 12 (2021): http://dx.doi.org/10.3389/fneur.2021.735549. Open access • 10.3389/fneur.2021.735549 Antunes, Cláudia; DA SILVA, JORGE D.; Guerra-Gomes, Sónia; Alves, Nuno D.; Ferreira, Fábio; Loureiro-Campos, Eduardo; Branco, Miguel R.; et al. "Reduced hippocampal ten-eleven translocation 3 (Tet3) protein expression in Tet3 conditional knockout mice". Molecular Psychiatry 26 5 (2021): 1425-1425. http://dx.doi.org/10.1038/s41380-021-01067-4. 10.1038/s41380-021-01067-4 Meira-Carvalho, Filipa; Da Silva, Jorge Diogo; Rodrigues, Margarida. "Opicapone in Parkinson’s Disease: Real-World Data from a Portuguese Center". European Neurology 84 2 (2021): 129-131. http://dx.doi.org/10.1159/000514544. Open access • Published • 10.1159/000514544 Antunes, Cláudia; Da Silva, Jorge D.; Guerra-Gomes, Sónia; Alves, Nuno D.; Ferreira, Fábio; Loureiro-Campos, Eduardo; Branco, Miguel R.; et al. "Tet3 ablation in adult brain neurons increases anxiety-like behavior and regulates cognitive function in mice". Molecular Psychiatry (2020): http://dx.doi.org/10.1038/s41380-020-0695-7. 10.1038/s41380-020-0695-7 Da Silva, Jorge Diogo; Oliveira, Stéphanie; Pereira-Sousa, Joana; Teixeira-Castro, Andreia; Costa, Marta Daniela; Maciel, Patrícia. "Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration". Molecular Neurobiology 57 3 (2019): 1553-1569. http://dx.doi.org/10.1007/s12035-019-01833-0. Published • 10.1007/s12035-019-01833-0 Mendes-Pinheiro, Bárbara; Anjo, Sandra I.; Manadas, Bruno; Da Silva, Jorge D.; Marote, Ana; Behie, Leo A.; Teixeira, Fábio G.; Salgado, António J.. "Bone Marrow Mesenchymal Stem Cells' Secretome Exerts Neuroprotective Effects in a Parkinson's Disease Rat Model". Frontiers in Bioengineering and Biotechnology 7 (2019): http://dx.doi.org/10.3389/fbioe.2019.00294. 10.3389/fbioe.2019.00294 Da Silva, Jorge Diogo; Teixeira-Castro, Andreia; Maciel, Patrícia. "From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation". Neurotherapeutics 16 4 (2019): 1009-1031. http://dx.doi.org/10.1007/s13311-019-00798-1. 10.1007/s13311-019-00798-1 Bravo, Francisca Vaz; Da Silva, Jorge; Chan, Robin Barry; Di Paolo, Gilbert; Teixeira-Castro, Andreia; Oliveira, Tiago Gil. "Phospholipase D functional ablation has a protective effect in an Alzheimer’s disease Caenorhabditis elegans model". Scientific Reports 8 1 (2018): http://dx.doi.org/10.1038/s41598-018-21918-5. 10.1038/s41598-018-21918-5
Magazine article	DA SILVA, JORGE D.. "Portugal espera avanços no rastreio neonatal de imunodeficiência rara desde 2016", Público, 2024 DA SILVA, JORGE D.. "Há 40 anos, David teve uma bolha como casa. Hoje, a sua doença já não é uma sentença de morte", Público, 2024
Online resource	DA SILVA, JORGE D.. Ellis-Van Creveld Syndrome. 2024. https://rarediseases.org/rare-diseases/ellis-van-creveld-syndrome/. DA SILVA, JORGE D.; Maciel, Patrícia. Review of: A Variant in Genes of the NPY System as Modifier Factor of Machado-Joseph Disease in the Chinese Population. 2022. https://www.qeios.com/read/Z0YH1U. doi.org/10.32388/Z0YH1U
Thesis / Dissertation	"Insights from Caenorhabditis elegans models into neurogenetic disorders of the motor system: from fundamental to translational research". PhD, Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, 2021. https://hdl.handle.net/1822/77317. DA SILVA, JORGE D.. "Linking autophagy to feeding status: the function of egli-1 in the Caenorhabditis elegans nervous system". Master, Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, 2020.

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2025/04/11	Illustrating the impact of clinical-laboratory integration in the diagnosis and treatment of inborn errors of cobalamin metabolism	2025 ESHG Precision Genomic Medicine Workshop (Ireland)
2025/03/29	Clinical presentation and genotype-phenotype correlations of ABCB4-related adult cholestatic liver diseases	Congresso Português de Hepatologia 2025 (Portugal)
2024/12/07	FRAXE intellectual development disorder: warning for a forgotten diagnosis	SPGH 2024 (Portugal)
2024/12/07	A never-ending race: a multilocus cause of an inborn error of immunity associated with complex neurological disease	SPGH 2024 (Portugal)
2024/11/14	Neurodesenvolvimento: O Papel da Genética no Diagnóstico e Intervenção	XXIX Jornadas de Pediatria de Leiria e Caldas da Rainha (Portugal)
2024/11/04	Farmacogenética e Neurodesenvolvimento	XI Seminário da Sociedade de Pediatria do Neurodesenvolvimento (Portugal)
2024/10/22	Manchester Dysmorphology Course - Unknown Case of Severe Syndromic Growth Restriction	Manchester ESHG Syndromology & Dysmorphology Course (United Kingdom)
2024/10/11	Cascade family screening in BRCA1/2 cancer susceptibility syndromes: hits and misses from 5 years of experience	BRCA Clinical Challenge 2024 (Portugal)
2024/09/27	Duas novas variantes alélicas no gene GMPPB associadas a uma forma de distrofia muscular com boa resposta a piridostigmina	12º Congresso Português de Doenças Neuromusculares (Portugal)
2024/09/20	Doença genética multiloci - quadro clínico complexo com associação de quatro doenças monogénicas	III SPIDP - SPP Meeting (Portugal)
2024/09/04	Impact of structural GLA protein changes on peripheral GLA activity and substrate accumulation in Fabry disease patients	2024 Annual Meeting of the Society for the Study of Inborn Errors of Metabolism (Portugal)
2024/05/17	A shrouded case of autosomal recessive osteopetrosis requiring emergent care	Bone Dysplasias 2024 (Portugal)
2024/05/17	Ellis-van Creveld Syndrome: Management and Surveillance Recommendations	Bone Dysplasias 2024 (Portugal)
2024/05/14	Optimizing clinical-laboratorial integration of CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating	15th International Symposium of Variants in the Genome 2024 (Portugal)
2024/04/19	A complex genetic condition with a simple clinical presentation: overlapping TACI-associated CVID and GATA2 deficiency	Spring PID School 2024 (Czech Republic)
2024/04/19	A severe case of humoral immunodeficiency and autoimmune enteropathy with cachexia associated with CTLA4 haploinsufficiency	Spring PID School 2024 (Czech Republic)
2023/11/09	A paradoxical endeavor in genetic syndromes of non-muscular actin: absence of the typical actinopathy immune dysregulation	International Primary Immunodeficiencies Congress 2023 (Rotterdam, Netherlands)
2023/10/13	Distúrbios do Desenvolvimento Sexual - Casos Clínicos	2ª Reunião de Internos de Genética Médica 2023 Centro Hospitalar e Universitário de Santo António (Porto, Portugal)
2023/09/29	Aconselhamento Genético e Rastreio de Portador - Avaliação da experiência de 4 Anos do Primeiro Banco Público de Gâmetas em Portugal	Reunião Anual da Associação Portuguesa de Diagnóstico Pré-Natal (Peso da Régua, Portugal)
2023/09/13	Vamos Falar de Especialidades - Genética Médica	Vamos Falar de Especialidades Centro Hospitalar e Universitário de Santo António (Porto, Portugal)
2023/06/30	Cascade family screening in cancer susceptibility syndromes: hits and misses from 5-years of experience	CMIN Summit 23 Centro Materno-Infantil do Norte, Porto, Portugal (Porto, Portugal)
2023/06/30	Genetic counseling and carrier screening in candidates for gamete donation at the first public gametes bank in Portugal	CMIN Summit 2023 (Porto, Portugal)
2023/06/17	Doenças Autoinflamatórias no Adulto - A Experiência de uma Consulta Diferenciada num Centro Terciário	IX Congresso Nacional de Autoimunidade (Albufeira, Portugal)
2023/06/16	Progressive familial intrahepatic cholestasis type 3: a new likely pathogenic genetic variant of ABCB4 gene.	Semana Digestiva 2023 (Coimbra, Portugal)
2023/05/19	Case report of BTK-linked agammaglobulinemia with HNF4A-associated MODY	EJP RD – ERN Workshop: Genetics and Precision Medicine in Rare Diseases (Lisbon, Portugal)
2023/05/04	KIF1A-Associated Neurological Disorders (KAND)	17º Congresso da Sociedade Portuguesa de Neuropediatria (Porto, Portugal)
2023/03/30	Impact of structural GLA protein changes on peripheral GLA activity and substrate accumulation in Fabry disease patients.	19th International Symposium of the Portuguese Society for Metabolic Disorders (Figueira da Foz, Portugal)
2023/03/30	Clinical and laboratory findings in Glycogen Storage Disease Type V: results from a retrospective observational study in a tertiary hospital	19th International Symposium of the Portuguese Society for Metabolic Disorders (Figueira da Foz, Portugal)
2023/02/13	The Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD	UMIB Seminars Unit for Multidisciplinary Research in Biomedicine (Porto, Portugal)
2022/11/27	A Natureza dos Cuidados nas Urgências Obstétricas: A Genética na Emergência e na Urgência	XVI Jornadas de Enfermagem da Escola de Enfermagem da Universidade do Minho Escola de Enfermagem - Universidade do Minho, Braga, Portugal (Braga, Portugal)
2022/11/17	Dysmorphology club: missense MED12 variants in 22 males with intellectual disability	26th Meeting of the Portuguese Society for Human Genetics (Portugal)
2022/11/02	The Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD	International Congress for Ataxia Research (ICAR) 2022 (Dallas, United States)
2022/10/30	Agenesia do corpo caloso em pré-natal: experiência de um centro terciário	X Reunião de Neurogenética (Portugal)
2022/07/01	Low-expressivity gonadosomatic mosaicism in health and disease: Illustrating the difficulty and importance of genetic counselling	CMIN Summit 22 Centro Materno-Infantil do Norte (Porto, Portugal)
2022/06/07	Intrafamilial and intragenotypic variability of skeletal ciliopathies: a case-report of the Ellis-van Creveld syndrome	3ª Jornadas de Doenças Ósseas Raras Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal (Coimbra, Portugal)
2022/05/31	A tale of two swords: between immunodeficiency and autoimmunity	ESID/ERN-RITA Workshop: From high throughput sequencing to diagnosis in immune mediated disorders ESID/ERN-RITA (Paris, France)
2018/09/17	Non-cell autonomous neuronal dysfunction in SMA: lessons from a downstream target of SMN	Ciência Falada Universidade do Minho (Portugal)
2018/04	Genetic and pharmacological modifiers of ATXN3 proteotoxicity converge to antioxidant response pathways	7th Ataxia Investigators Meeting National Ataxia Foundation (Philadelphia, United States)
2018/03	Sensorimotor integration, rather than motor behavior, is changed in a knockout model of a downstream target of SMN	Congresso da Sociedade Portuguesa de Doenças do Movimento (Portugal)
2017/12	Workshop Presenter: "Animal Models to Study the Enteric Nervous System"	10th Minho Medical Meeting (Portugal)

Supervision

	Thesis Title Role	Degree Subject (Type) Institution / Organization
2024/09/01 - Current	Genetic Polymorphism, Somatic and Neuropsychiatric Complications Associated with Alcohol Abuse in Cape Verde Supervisor	Universidade do Minho Escola de Medicina, Portugal
2021/09/01 - Current	To eat or to seek: the dynamics between autophagy and food sensing mechanisms Supervisor of Jorge Humberto Esperança Fernandes	Doutoramento em Ciências da Saúde (PhD) Universidade do Minho Escola de Medicina, Portugal
2021/09 - Current	To eat or to seek: The role of autophagy in food-sensing mechanisms Supervisor	PhD in Health Sciences (PhD) Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2020/01/01 - 2022/01/05	Serotonin-targeting antidepressants as modifiers of Huntington’s disease progression Supervisor of Ana Margarida Freitas Monteiro	Mestrado Integrado em Medicina (Master) Universidade do Minho Escola de Medicina, Portugal
2021 - 2021	Genetic Tools to Evaluate Autophagy Activation in C. elegans Supervisor	Medicina - Projeto de Opção II (Other) Universidade do Minho Escola de Medicina, Portugal

Event participation

	Activity description Type of event	Event name Institution / Organization
2024/11/29 - Current	XII Reunião de Neurogenética
2024/10/18 - Current	Reunião Anual da APDPN 2024
2024/10/11 - Current	BRCA Clinical Challenge	AstraZeneca Produtos Farmacêuticos Lda, Portugal
2024/09/25 - Current	MostrEM 2024 Round Table	Ordem dos Médicos, Portugal
2024/09/13 - Current	Reunião de Internos de Genética Médica 2024
2023/10/13 - Current	2ª Reunião de Internos de Genética Médica 2023 - Distúrbios do Desenvolvimento Sexual Seminar	Centro Hospitalar Universitário do Porto EPE, Portugal
2023/06/09 - Current	Participation in the Course: ACMG-AMP Classification System Workshop	European Society of Human Genetics, Austria
2023/06/09 - Current	Participation in the Course: HGVS Nomenclature Workshop	European Society of Human Genetics, Austria
2022/06/03 - Current	Attendee of the Reunião Anual SEDP-SPP 2022 Congress	Reunião Anual SEDP-SPP 2022 Sociedade Portuguesa de Pediatria, Portugal
2022/05/13 - Current	1ª Reunião de Internos de Genética Médica 2022 - Distrofias da Retina Conference	1ª Reunião de Internos de Genética Médica 2022 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2022/02/28 - Current	Encontros Raros - Investigadores Raros à Conversa com Doentes Raros Encontro aberto à comunidade para conversa de doentes e familiares de doentes com doenças raras com médicos e investigadores que trabalham nesta área. Meeting	Encontros Raros - Investigadores Raros à Conversa com Doentes Raros Universidade do Minho Escola de Medicina, Portugal
2018 - Current	Attendee of the 7th Ataxia Investigators Meeting Conference	National Ataxia Foundation, United States
2023/05/18 - 2033/05/19	Attendee of the EJP RD - ERN Workshop: Genetics and Precision Medicine in Rare Diseases Workshop	EJP RD – ERN Workshop: Genetics and Precision Medicine in Rare Diseases
2024/12/05 - 2024/12/07	28ª Reunião da SPGH	Sociedade Portuguesa de Genética Humana, Portugal
2024/11/14 - 2024/11/15	The Skeletal Dysplasia Group Autumn 2024 Meeting
2024/10/22 - 2024/10/24	Manchester ESHG Syndromology & Dysmorphology Course
2024/10/14 - 2024/10/16	Variant Effect Prediction Training Course
2024/09/03 - 2024/09/06	2024 Annual Meeting of the Society for the Study of Inborn Errors of Metabolism	Society for the Study of Inborn Errors of Metabolism, United Kingdom
2024/05/01 - 2024/05/31	Online Course: "Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations"
2024/05/16 - 2024/05/18	Bone Dysplasias 2024
2024/05/13 - 2024/05/15	15th International Symposium of Variants in the Genome 2024
2024/04/18 - 2024/04/20	Spring PID School 2024	Fakultní nemocnice v Motole, Czech Republic
2024/04/11 - 2024/04/12	XI Seminário da Sociedade de Pediatria do Neurodesenvolvimento
2023/11/23 - 2023/11/25	Attendee of the 27ª Reunião da SPGH Meeting	Sociedade Portuguesa de Genética Humana, Portugal
2023/11/08 - 2023/11/10	Attendee of the International Primary Immunodeficiencies Congress 2023 Congress
2023/10/02 - 2023/10/04	Participation in the Course: Variant Effect Prediction Training Course Workshop	Human Genome Organization
2023/06/28 - 2023/06/30	Attendee of the CMIN Summit 23 Meeting
2023/06/09 - 2023/06/13	Attendee of the ESHG Conference 2023
2023/03/30 - 2023/03/31	Attendee of the 19th International Symposium of the Portuguese Society for Metabolic Disorders Symposium	19th International Symposium of the Portuguese Society for Metabolic Disorders
2023/02/09 - 2023/02/09	Attendee of the Genética en las Enfermedades Raras: Distrofia muscular de Duchenne Conference	Genética en las Enfermedades Raras: Distrofia muscular de Duchenne PTC Therapeutics Ltd, United Kingdom
2022/11/29 - 2022/11/29	Attendee of the symposium "Testes Genéticos em Contexto: pessoas, família, sociedade" Symposium	"Testes Genéticos em Contexto: pessoas, família, sociedade" Instituto de Biologia Molecular e Celular, Portugal
2022/11/17 - 2022/11/19	Attendee of the 26th SPGH Annual Meeting Meeting
2022/11/01 - 2022/11/05	Attendee of the ICAR 2022 (International Congress for Ataxia Research) Conference	ICAR 2022 (International Congress for Ataxia Research) National Ataxia Foundation, United States Ataxia UK, United Kingdom Friedreichs Ataxia Research Alliance, United States
2022/09/17 - 2022/09/24	Attendee of the "I Congresso Nacional de Ataxias" Conference	"I Congresso Nacional de Ataxias Associação Portuguesa de Ataxias Hereditárias, Portugal
2022/06/30 - 2022/07/01	Attendee of the CMIN Summit 22 Congress	CMIN Summit 22 Centro Hospitalar Universitário do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Portugal
2022/06/06 - 2022/06/07	Attendee of the 3ª Jornadas de Doenças Ósseas Raras Meeting Congress	3ª Jornadas de Doenças Ósseas Raras Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2022/05/30 - 2022/05/31	Attendee of the ESID/ERN-RITA Workshop: From high throughput sequencing to diagnosis in immune mediated disorders Workshop	ESID/ERN-RITA Workshop: From high throughput sequencing to diagnosis in immune mediated disorders European Reference Networks, Belgium
2019 - 2019	Attendee of the 2019 ISN-ASN Meeting Conference	International Society for Neurochemistry, Switzerland
2019 - 2019	Post-Graduate Course on "Systematic Review and Meta-Analysis" Workshop	Universidade do Minho, Portugal
2018 - 2018	Attendee of the 2018 Portuguese Movement Disorder Society Conference Conference
2018 - 2018	Post-Graduate Course on "Medical Assessment Tools" Workshop	Universidade do Minho, Portugal
2017 - 2017	Attendee of the 2017 Minho Medical Meeting Congress	Universidade do Minho, Portugal
2015/08 - 2015/11	Online Course: "Cellular Mechanisms of Brain Function” Other	École Polytechnique Fédérale de Lausanne, Switzerland
2015/05 - 2015/08	Online Course: “Genomic Medicine Gets Personal” Other	Georgetown University, United States

Jury of academic degree

	Topic Role	Candidate name (Type of degree) Institution / Organization
2024/11/18	Novel genetic strategies for the characterization of Familial Hypercholesterolemia phenotype (Thesis) Main arguer	Ana Margarida Cabeleira Medeiros (PhD) Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal
2024/02/23	Functional genomics in familial dyslipidaemia (Thesis) Main arguer	Rafael José Ferreira Nunes Graça (PhD) Universidade de Lisboa Faculdade de Ciências, Portugal
2023/04/26	APOB Variants Spectrum and Functional Characterization in Portuguese Patients with Familial Hypercholesterolaemia Phenotype (Thesis) Main arguer	Maria Rafael Simões do Carmo Ferreira (Master) Universidade de Lisboa Faculdade de Ciências, Portugal

Ad Hoc journal article review

	Journal title (ISSN)	Publisher
2025 - Current	European Journal of Medical Genetics (1878-0849)
2024 - Current	AJMG Part A (1552-4833)
2024 - Current	Clinical Case Reports (2050-0904)
2024 - Current	Current Issues in Molecular Biology (1467-3045)
2024 - Current	European Journal of Human Genetics (1476-5438)
2024 - Current	Genes (2073-4425)
2024 - Current	NAR Genomics & Bioinformatics (2631-9268)
2023/05/20 - Current	Parkinsonism and Related Disorders (1873-5126)
2023/04/24 - Current	International Journal of Molecular Sciences (1422-0067)
2023/03/18 - Current	Portuguese Journal of Pediatrics (2184-4453)
2023/02/15 - Current	Molecular Genetics and Genomic Medicine (1422-0067)
2023/01/10 - Current	Behavioral Sciences (2076-328X)
2023 - Current	Frontiers in Neuroscience (1662-453X)
2023 - Current	Frontiers in Neurology (1664-2295)
2023 - Current	Frontiers in Genetics (1664-8021)
2023 - Current	BMC Medical Genomics (1755-8794)
2022/10/25 - Current	International Journal of Environmental Research and Public Health (1660-4601)	MDPI
2022/10/01 - Current	Genes (2073-4425)	MDPI
2022/07/18 - Current	Cold Spring Harbor Molecular Case Studies (2373-2873)	Cold Spring Harbor Laboratory Press
2022 - Current	Brain Sciences (2076-3425)	MDPI
2021/10/27 - Current	Acta Neurologica Belgica (2240-2993)	Springer

Association member

	Society Organization name	Role
2024 - Current	European Society for Immunodeficiencies
2024 - Current	Skeletal Dysplasia Group
2023/03/30 - Current	Sociedade Portuguesa de Doenças Metabólicas
2022/04 - Current	Sociedade Portuguesa de Genética Humana
2019/02 - Current	International Society for Neurochemistry	Member
2018 - Current	SCASource - Ataxia research news, directly from researchers to the SCA community	Writer of several lay articles that summarize key findings in research papers of ataxia
2014 - 2016	Magazine "HajaSaúde"	Collaborator, Article Writing

Consulting

	Activity description	Institution / Organization
2018 - Current	Consultant for Research Activities: - Statistical analysis for projects, dissertations and scientific articles in the areas of Natural Sciences, Health Sciences, Medicine and Social Sciences; - Writing support and translation services (Portuguese - English) for scientific texts; - Revision and writing support for projects, dissertations and scientific articles in the areas of Natural Sciences, Health Sciences and Medicine.

Course / Discipline taught

	Academic session	Degree Subject (Type)	Institution / Organization
2025 - Current	Study Design and Biostatistics	(Doutoramento)	Universidade do Minho Escola de Medicina, Portugal
2025 - Current	Sessões Formativas do Internato de Formação Específica em Genética Médica	(Outros)	Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2024/10/14 - Current	Variant Classification: ACMG Recommendations for CNVs Variant Classification: Additional Recommendations for CNVs Workshop: CNV Classification	Variant Effect Prediction Training Course 2024
2024/09 - Current	Biostatistics - Fundamentals of Medicine 1	(Mestrado integrado)	Universidade do Minho Escola de Medicina, Portugal
2023/11/02 - Current	Medical Genetics - Fundamentals of Medicine 1	Medicina (Mestrado integrado)	Universidade do Minho Escola de Medicina, Portugal
2023 - Current	Fundamentals in Genetics, Development and Neoplasia	Genetic Alterations (Mestrado)	Universidade do Minho Escola de Medicina, Portugal
2022 - Current	Medical Genetics - Introduction to Medicine I	Medicina (Mestrado integrado)	Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020/10 - Current	Genetics and Behavior	Psicologia (Licenciatura)	Universidade do Minho, Portugal
2025/05 - 2025/06	Current Approaches to the Diagnosis and Treatment of Rare Diseases	(Outros)	Universidade do Minho Escola de Medicina, Portugal
2020 - 2020	Applications of Molecular Biology in Medical Genetics	Medicina (Mestrado integrado)	Universidade do Minho Escola de Medicina, Portugal
2018 - 2020	Genetic Databases for Clinical Medicine	Medicina (Mestrado integrado)	Universidade do Minho Escola de Medicina, Portugal
2019 - 2019	Analysis of Motor Behavior with Caenorhabditis elegans	Fundamentals in Neuroscience	Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Interview (newspaper / magazine)

	Activity description	Newspaper / Forum
2024/02/22	Há 40 anos, David teve uma bolha como casa. Hoje, a sua doença já não é uma sentença de morte	Público
2024/02/22	Portugal espera avanços no rastreio neonatal de imunodeficiência rara desde 2016	Público

Interview (tv / radio show)

	Program	Topic
2023/03/03 - 2033/03/03	UMinho I&D - Rádio Universidade do Minho	Research Project on Huntington's Disease

Distinctions

Award

2025	Award to Attend the ESHG Precision Genomic Medicine Workshop 2025
2024	Award to Attend the 15th International Symposium on Variants in the Genome
2024	Award to Attend the 21st Spring School of Primary Immunodeficiencies
2024	Award to Attend the 2024 Symposium of the Society for the Study of Inborn Errors of Metabolism
2024	Award to Attend the Manchester European Society of Human Genetics Syndromology and Dysmorphology Course 2024
2024	Heloísa Santos Award in Bone Dysplasias
2024	1st Prize on the BRCA Clinical Challenge
2024	Honorable Mention - Oral Communication at the Bone Dysplasias 2024 Meeting
2024	Honorable Mention - Oral Communication at the 28th SPGH Meeting
2023	Best Oral Communication - 19th International Symposium of the Portuguese Society of Metabolic Disorders
2023	Award to Attend the 2023 European Human Genetics Conference
2023	Award to Attend the EJP RD - ERN Workshop: Genetics and Precision Medicine in Rare Diseases
2023	Award to Attend the 2023 International Primary Immunodeficiencies Congress
2023	Best Poster - 20º Congresso Nacional de Oncologia
2022	Award to Attend the ESID/ERN-RITA Workshop: From high throughput sequencing to diagnosis in immune mediated disorders European Reference Networks, Belgium
2022	Honorable Mention - Oral Communication "Low-expressivity gonadosomatic mosaicism in health and disease: Illustrating the difficulty and importance of genetic counselling" - CMIN Summit 22 Centro Hospitalar Universitário do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Portugal
2022	Young Investigator Travel Award - International Congress for Ataxia Research (ICAR) 2022 National Ataxia Foundation, United States
2021	Prémio CGD de Distinção do Melhor Aluno do Mestrado Integrado em Medicina Caixa Geral de Depositos, Portugal
2019	Award to Attend the ISN-ASN 2019 Meeting International Society for Neurochemistry, Switzerland
2018	Best Hot Chair Presentation (7th Ataxia Investigators Meeting)
2018	Award to Attend the 7th Ataxia Investigators Meeting National Ataxia Foundation, United States
2018	Award to Attend the 2018 SPDMov Meeting
2017	1st Prize in the SpinUM Business Idea Contest TecMinho Associação Universidade-Empresa para o Desenvolvimento, Portugal
2015	Scholarship for the 2015 PAPSummer Program