PhD
Centro Hospitalar Universitário de Santo António (CHUdSA)
Centro de Genética Médica Jacinto de Magalhães (CGM)
Research group
Clinical and Experimental Human Genomics
From 2017 – PhD student In PhD program Biomedical Sciences, Instituto de Ciências Biomédicas Abel Salazar
Faculty of Sciences, University of Porto, Portugal/ /Public University
MSc degree in Human Genetics – Mestre em Genética Humana
Thesis title: “Desenvolvimento de técnicas para doseamento da homocisteína total e detecção do polimorfismo 677C-T da MTHFR (metilenotetrahidrofolato redutase – EC 1.5.1.20)” 27.01.1998
Faculty of Pharmacy, University of Porto, Portugal /Public University
Licenciatura in Pharmaceutical Sciences – Clinical Analysis (6 years honour degree)
30.07.1986
Since 2018 – Coordinator of the Biochemical Genetics Laboratory, CGM, CHUP
From 2012-2018 – Coordination of Congenital Disorders of Glycosylation diagnosis
From 2008 to 2012 – Coordinator of the Clinical Biology Laboratory of the Biochemical Genetics Unit
From 1997 to 2008 – Developed work in the Inborn Errors of Metabolism diagnostic Clinical Biology Laboratory
From 1992 to 1997 – Developed work in the Peroxisomal Disorders post and Prenatal diagnostic
2003 – Trained biochemical and molecular diagnostic in the Congenital Disorders of Glycosylation in the Metabolic Department of University Hospital Gasthuisberg in Leuven, Belgium, by Prof. Dr. Jaak Jaeken
2000 – Trained in the molecular diagnostic of Congenital Disorders of Glycosylation in the Laboratory for Molecular Diagnosis of the Department of Human Genetics of KU Leuven, Belgium, by Prof..Dr Gert Matthijs
1998 – Trained in the biochemical diagnostic of Congenital Disorders of Glycosylation in the Metabolic Department of University Hospital Gasthuisberg in Leuven, Belgium, by Prof. Dr. Jaak Jaeken
Recognised by the European Board of Medical Genetics with the title of Certified Clinical Laboratory Geneticists (general) until 2025 (https://www.eshg.org/667.0.html)
Curso de formação contínua: Genética médica e laboratorial (GML)
Instituto de Ciências Biomédicas Abel Salazar, University of Porto
2014-2018
Introdução à Medicina
Mestrado Integrado em Medicina
Instituto de Ciências Biomédicas Abel Salazar, University of Porto
2019-2121
POCI-01-0145-FEDER-29723 with the title “Do genótipo ao fenótipo: avaliando os efeitos epistáticos entre as mutações e os polimorfismos nas doenças genéticas”
Main institution: Ipatimup
PI: Luísa Azevedo, PhD
Dulce Quelhas: participates with a 25% dedication
GLY – clinical and basic investigation into phosphomannomutase deficiency (PMM2-CDG)
Promoter: Glycomine
Partner institution: Centro Hospitalar Universitário do Porto
PI: Esmeralda Martins, MD, PhD
PI21/00068, Instituto de Salud Carlos III
Stroke-like episodes in CDG: An international multicenter approach to discover the real phenotype, improve the diagnosis and management and understand the underlying mechanisms.
PI: Mercedes Serrano, MD, PhD
Member of the Scientific Committee of the Portuguese Society of Human Genetics from 2009-2010
Member of the director board of Portuguese Society of Metabolic Disorders since 2012
Council member of the director board of Society for the Study of Inborn Errors of Metabolism (SSIEM) since September 2017
Scientific Advisor of European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inborn errors of Metabolism (ERNDIM)
Reviewer for European Journal of Human Genetics in 2013, 2014, 2015, 2021
Reviewer for The Journal of Inherited Metabolic Disease in 2016, 2017, 2020, 2021