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Celia Azevedo Soares is a clinical geneticist who sees patients with multiple hereditary disorders and collaborates with projects related to Human Genetics and Neurodevelopment. She performed her PhD thesis in the development of the earliest projections from the eye to the brain, and retinal neurogenesis, at the Mason Lab, Columbia University, as a visiting MD/PhD student from Minho University. For her PhD, she was awarded an individual PhD fellowship from Fundação para a Ciência e Tecnologia. Besides, she is trained in methods of clinical research after completing a 2-year non-degree program from Harvard Medical School - Portugal. After her MD-PhD, she started a residency in Medical Genetics that included observerships at international centers. Celia was a visiting scholar at the Institute of Genetic Medicine, Hopkins Medicine, Baltimore, USA, where she received training in Clinical Genetics from Dr. Joann Bodurtha and in whole-exome analysis from Dr. Nara Sobreira. She also trained in human brain embryology and fetal pathology at the Necker Hospital, Paris, France, under the supervision of Dr. Tania Attie-Bitach. Besides her scientific interests, she has been involved in outreach activities related to neuroscience and supervised a student in a program directed to racial minorities. She collaborated with sociologic projects to discuss inequalities and wrote about it in a national public newspaper. She is also involved in the community of physicians championing the creation of a physician-scientist career in Portugal, publishing two opinion papers on this topic as the first and the last author. She has been an active member of multiple professional societies including the European MD/PhD Association, Portuguese Post Graduate Society, and Young Geneticists Network. Presently, she is a member of the EduComm of the European Society of Human Genetics. She has contributed to the writing of lab research grants with her knowledge of Neurodevelopment and Human Genetics.
Identification

Personal identification

Full name
Célia Márcia Azevedo Soares

Citation names

  • Soares, Celia
  • Celia Azevedo Soares

Author identifiers

Ciência ID
8014-8739-FEA1
ORCID iD
0000-0002-2907-0091

Knowledge fields

  • Medical and Health Sciences - Basic Medicine
  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Natural sciences - Biological Sciences - Genetics and Heredity
  • Natural sciences - Biological Sciences - Developmental Biology
  • Medical and Health Sciences - Clinical Medicine

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Advanced (C1) Upper intermediate (B2) Advanced (C1)
French Intermediate (B1) Intermediate (B1) Elementary (A2) Elementary (A2)
Spanish; Castilian Beginner (A1) Beginner (A1) Beginner (A1) Elementary (A2) Beginner (A1)
Education
Degree Classification
2016 - 2018
Concluded
The Portugal Clinical Scholars Research Training (Postgraduate Certificate)
Major in Clinical research
Harvard Medical School, United States
2010 - 2015
Concluded
Visiting MD PhD (Doktor (PhD))
Major in axonal guidance, neurodevelopment
Columbia University Department of Pathology and Cell Biology, United States
2005 - 2015
Concluded
Medicina (Mestrado integrado)
Universidade do Minho, Portugal
2012/01/02 - 2012/04/30
Concluded
Professional Skills for Neuroscientists (Postgraduate Certificate)
Columbia University Irving Medical Center, United States
2011/08/01 - 2011/12/15
Concluded
Ethics in Research for Neuroscientist (Postgraduate Certificate)
Columbia University Irving Medical Center, United States
2011/01/01 - 2011/04/30
Concluded
Neurodevelopment Course (Postgraduate Certificate)
Columbia University Irving Medical Center, United States
Affiliation

Science

Category
Host institution
Employer
2022/05 - Current Visiting Researcher (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2017/01 - Current Researcher (Research) Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010 - 2014 Researcher (Research) Columbia University Irving Medical Center, United States

Teaching in Higher Education

Category
Host institution
Employer
2022/09 - Current Invited Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2022/06 - Current Invited Associate Professor (University Teacher) Universidade de Aveiro, Portugal
Universidade de Aveiro Departamento de Ciências Médicas, Portugal

Others

Category
Host institution
Employer
2022 - Current Attending Physician - Medical Genetics Centro Hospitalar Universitário do Porto EPE, Portugal
2017 - 2022 Medical Resident - Medical Genetics Centro Hospitalar Universitário do Porto EPE, Portugal
2021/10/01 - 2021/11/30 Visiting Scholar Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2021/09/01 - 2021/09/30 Visiting Scholar Universität Basel, Switzerland
2020/03/01 - 2020/03/31 Visiting Scholar Edward S Harkness Eye Institute, United States
2019/04/01 - 2019/04/30 Visiting Scholar Hôpital universitaire Necker-Enfants malades, France
Institut Necker-Enfants Malades, France
2018/02/13 - 2018/03/17 Visiting Scholar Johns Hopkins Medicine, United States
Johns Hopkins Medicine McKusick-Nathans Institute of Genetic Medicine, United States
2018/01/02 - 2018/01/30 Visiting Scholar Laboratório de Citogenética e Genómica da Faculdade de Medicina da Universidade de Coimbra, Portugal
Laboratório de Citogenética e Genómica da Faculdade de Medicina da Universidade de Coimbra, Portugal
2008/08/01 - 2008/08/31 Undergrad Laboratory Rotation: What are the consequences of early-life stressful experiences in rats? Universidade do Minho, Portugal
2008/07/01 - 2008/07/07 Undergrad Laboratory Rotation: Constructing the Yeast Model of the Most Common Mutation in Batten Disease Universidade do Minho, Portugal
2008/06/01 - 2008/06/30 Undergrad Laboratory Rotation: Characterization of the Expression of Monocarboxylate Transporters in Human Brain Tumours Universidade do Minho, Portugal
Projects

Grant

Designation Funders
2011 - 2015 Fate of the earliest retinal ganglion cells during the development of the visual system
SFRH/BD/74926/2010
PhD Student Fellow
Fundação para a Ciência e a Tecnologia

Contract

Designation Funders
2022 - Current Investigating the drivers of Fanconi Anemia-associated brain malformations
2022.01964.PTDC
Co-Principal Investigator (Co-PI)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2021/01/01 - Current Unit for Multidisciplinary Research In Biomedicine - UMIB
UIDB/00215/2020
UIDP/00215/2020
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2021/01/01 - 2025/12/31 Laboratório para a Investigação Integrativa e translacional em Saúde Populacional
LA/P/0064/2020
Universidade do Porto Faculdade de Desporto, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Unidade de Investigação em Epidemiologia, Portugal

Universidade do Porto Instituto de Saúde Pública, Portugal

Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal

Universidade do Porto Centro de Investigação em Actividade Física Saúde e Lazer, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2021/01/01 - 2025/12/31 Laboratory for Integrative and Translational Research in Population Health
LA/P/0064/2020
Universidade do Porto Faculdade de Desporto, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Unidade de Investigação em Epidemiologia, Portugal

Universidade do Porto Instituto de Saúde Pública, Portugal

Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal

Universidade do Porto Centro de Investigação em Actividade Física Saúde e Lazer, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2019/01/01 - 2019/12/31 Unidade Multidisciplinar de Investigação Biomédica - UMIB
UID/Multi/00215/2019
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2024/01 - Current An Operationally Seamless, Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and a Phase 3 Double-Blind, Placebo-Controlled Phase to Assess the Efficacy and Safety of Setrusumab in Subjects With Osteogenesis Imperfecta
NA
Investigator - Clinical Trial
2021/03 - Current Genome instability in neural stem cells as a driver of neurodevelopmental disorders
PTDC/MED-NEU/1591/2021
Post-doc
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Ongoing
2020/01/01 - Current Narrativas digitais como preservação da memória - Projeto Piloto
Universidade do Porto Centro de Investigação Transdisciplinar Cultura Espaço e Memória, Portugal
Ongoing
2019 - Current HDAC8-spectrum syndrome: a unique human rare disorder as a prototype to dissect new roles of cohesins in intellectual disability and mitotic fidelity
PTDC/MED-GEN/1973/2020
Post-doc
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
Ongoing
2024/06 - 2024/08 A Phase 2, Randomized, Double-Blind, Placebo Controlled Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of BIA 28-6156 in Subjects With Parkinson’s Disease With a Pathogenic Variant in the Glucocerebrosidase (GBA1) Gene
NA
Researcher
Ongoing
2023/08 - 2023/10 A Phase 3, Multicenter, Randomized, Double Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of AL001 in Individuals at Risk for or With Frontotemporal Dementia Due to Heterozygous Mutations in the Progranulin Gene
NA
Investigator - Clinical Trial
Ongoing
Outputs

Publications

Book chapter
  1. Celia Azevedo Soares. "Geração à Rasca : crise(s), precariedade e futuro". In Cadernos da Pandemia Volume 3. Portugal, 2020.
    Published • Assistant staff
  2. Soares, Celia. "International Perspectives on Medical and Clinical Science PhDs". In How to Complete a PhD in the Medical and Clinical Sciences. John Wiley & Sons, Ltd, 2017.
Conference abstract
  1. Celia Azevedo Soares. "DIAGNOSTIC ACCURACY AND THE FIRSTGENOTYPE-PHENOTYPE CORRELATION INGLYCOGEN STORAGE DISEASE TYPE V". 2024.
  2. Celia Azevedo Soares. "A FEMALE PATIENT DIAGNOSED WITH PMM2-CDGIN HER SEVENTH DECADE OF LIFE". Paper presented in SSIEM 2024, 2024.
    Published
  3. Celia Azevedo Soares. "IMPACT OF MITOCHONDRIAL DNA VARIANTS ININHERITED RETINAL DISORDERS (IRD): AREVISION UTILIZING THE PORTUGUESE NATIONALIRD REGISTRY". Paper presented in SSIEM 2024, 2024.
    Published
  4. Pereira, Ângela; Diogo da Silva, Jorge; Soares, Ana Rita; Guimas, Arlindo; Rocha, Sara; Cardoso, Márcio; Garrido, Cristina; et al. "Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital". 2023.
    10.2174/1871530323666230914122936
  5. Celia Azevedo Soares. Corresponding author: Celia Azevedo Soares. "Follow-up of family members of children with mtDNA-associated Leigh syndrome". Paper presented in 55th European Society of Human Genetics, Viena, 2023.
    Published
  6. Celia Azevedo Soares. "Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly". Paper presented in 55th European Society of Human Genetics, Viena, 2023.
    Published
  7. Barros, T.; Celia Azevedo Soares; Andrade, A.; Moreira, C.; Guedes-Martins, L.; Braga, J.. "213 Case report: fetal malformations and 3P22.2P21.2 Deletion". 2022.
    Published • 10.1016/j.ejogrb.2021.11.069
Conference poster
  1. Celia Azevedo Soares. "CONGENITAL MYOPATHY: UNUSUALLY SEVERE PHENOTYPE UNCOVERS THREE GENETIC DISEASE LOCUS CONTRIBUTING FOR THE PHENOTYPE". Paper presented in 12º Congresso Português de Doenças Neuromusculares, 2024.
  2. Celia Azevedo Soares. "A HEALTHY FEMALE WITH A DMD DUPLICATION IN CARRIER SCREENING - CHALLENGES IN VARIANT INTERPRETATION AND CLINICAL MANAGEMENT". Paper presented in 12º Congresso Português de Doenças Neuromusculares, 2024.
  3. Celia Azevedo Soares. "C0142 CLINICAL AND MOLECULAR FEATURES OF A PORTUGUESE COHORT OF OSTEOGENESIS IMPERFECTA TYPE V". Paper presented in 16th International Skeletal Dysplasia Society Meeting, 2024.
  4. Celia Azevedo Soares. "Developing a Genomic Medicine elective course enhancing communication, patients’ perspective, and ethical understanding". Paper presented in European Society of Human Genetics 2024, 2024.
  5. Celia Azevedo Soares. "Navigating the complexity of DMD duplications in healthy individuals: a case of variant interpretation challenges in carrier screening". Paper presented in ISV2024 - HUGO meeting, 2024.
  6. Celia Azevedo Soares. Corresponding author: Celia Azevedo Soares. "Artificial intelligence-assisted missense variant reclassification in a patient with bone fragility". Paper presented in 20th international symposium of SPDM, 2024.
  7. Celia Azevedo Soares. "Monoallelic ETFDH variants associated with variable acylcarnitine profiles in a family". Paper presented in 20th international symposium of SPDM, 2024.
  8. Celia Azevedo Soares. "THE ROLE OF GENETIC COUNSELING IN PRE-SYMPTOMATIC GENETIC TESTING: LESSONS FROM FAMILIAL AMYLOIDOSIS POLYNEUROPATHY". Paper presented in 27ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2023.
  9. Celia Azevedo Soares. "GENETIC COUNSELLING AND CARRIER SCREENING: 4-YEAR EXPERIENCE OF THE FIRST PUBLIC GAMETE BANK IN PORTUGAL". Paper presented in 27ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2023.
  10. Celia Azevedo Soares. "NEURODEVELOPMENT TRENDS IN PORTUGUESE CHILDREN DIAGNOSED IN THE NEWBORN SCREENING WITH PHENYLKETONURIA OR CONGENITAL HYPOTHYROIDISM A RETROSPECTIVE COHORT STUDY". Paper presented in 27ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2023.
  11. Celia Azevedo Soares. "Innovative medical education: genomic medicine elective course enhancing communication and ethical understanding". Paper presented in GenomePT 2023, 2023.
  12. Celia Azevedo Soares. "MIOPATIA OCULOFARINGEA EM IDADE PEDIÁTRICA". Paper presented in Congresso nacional de Neurologia 2023, 2023.
  13. Celia Azevedo Soares. "A paradoxical endeavor in genetics syndromes of non-muscular actin: absence of the typical actinopathy immune dysregulation". Paper presented in IPIC2023, 2023.
  14. Celia Azevedo Soares. "Experience of a Portuguese Tertiary Center in diagnosing Cornelia de Lange Syndrome – a retrospective review". Paper presented in 19th Manchester Dysmorphology Conference, 2023.
  15. Celia Azevedo Soares. "Neonatal Screening In Portugal: The Results of a Retrospective Cohort Study of 113 Adult PKU Patients". Paper presented in SSIEM 2023, 2023.
  16. Celia Azevedo Soares. "A female patient diagnosed with PMM2-CDG in her seventh decade of life - case report". Paper presented in 6th World Conference on CDG, 2023.
  17. Celia Azevedo Soares. "Clinical pathways in cancer screening of PTEN hamartoma tumor syndrome". Paper presented in ESHG 2023, 2023.
  18. Celia Azevedo Soares. "Advantages of cDNA analysis in neurofibromatosis type 1 diagnosis". Paper presented in ESHG 2023, 2023.
  19. Celia Azevedo Soares. "• The European Society of Human Genetics’ innovative international educational initiatives for young human geneticists – a collaboration between ESHG-Y and EduComm". Paper presented in ESHG 2023, 2023.
  20. Celia Azevedo Soares. "The collaboration between the European Society of Human Genetics-Young Committee (ESHG-Y), UNIQUE and ERN-ITHACA: increasing the knowledge on rare genetic disorders for non-native English speakers". Paper presented in ESHG 2023, 2023.
  21. Celia Azevedo Soares. "Review of cardiovascular risk in McCardle patients". Paper presented in 19th International Symposium of the Portuguese Society for Metabolic Disorders, 2023.
  22. Celia Azevedo Soares. "The collaboration between the European Society of Human Genetics-Young Committee (ESHG-Y), UNIQUE and ERN-ITHACA: increasing the knowledge on rare genetic disorders for non-native English speakers". Paper presented in 14th International Congress of Human Genetics - Cape Town, South Africa, 2023.
  23. Celia Azevedo Soares. "The missing piece hidden in the eye - Waardenburg syndrome type 2A". Paper presented in Reunião do Grupo Português de Retina e Vítreo, 2023.
  24. Celia Azevedo Soares. Corresponding author: Celia Azevedo Soares. "Follow-up of family members of children with mtDNA-associated Leigh syndrome". Paper presented in ESHG 2022, 2022.
  25. Celia Azevedo Soares. "A rare case of WAGRO syndrome associated with 11p14.2-p13 interstitial deletion: advantages of a multidisciplinary intervention". Paper presented in CMIN Summit 2022, 2022.
  26. Celia Azevedo Soares. Corresponding author: Celia Azevedo Soares. "Mitochondrial HSD10 disease: report of prenatal presentation". Paper presented in Conferência Associação Portuguesa de Diagnóstico Pré Natal, 2022.
  27. Celia Azevedo Soares. "GENOTYPE, PHENOTYPE AND CLINICAL FOLLOW-UP OF A MULTICENTRIC COHORT OF PATIENTS WITH PTEN HAMARTOMA TUMOR SYNDROME". Paper presented in 25th SPGH meeting, 2021.
  28. Celia Azevedo Soares. "KBG SYNDROME IN THE PORTUGUESE POPULATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF 41 PATIENTS". Paper presented in 25th SPGH meeting, 2021.
  29. Celia Azevedo Soares. "GRIN2B-associated intellectual impairment: the neurological and behavioral phenotype in a cohort of patients". Paper presented in 15º Congresso da Sociedade Portuguesa de Neuropediatria 2021, 2021.
  30. Celia Azevedo Soares. "An updated molecular diagnosis in a male patient with methylmalonic aciduria and homocystinuria". Paper presented in SSIEM Academy 2021, 2021.
  31. Celia Azevedo Soares. "Neonatal HSD10 disease with atypical prenatal presentation and no specific urinary organic acids pattern, associated with novel HSD17B10 missense variant". Paper presented in Mitochondrial Medicine 2020, 2020.
  32. Celia Azevedo Soares. "P46 – CUL4B-related disorders: from an atypical presentation in a male with Cabezas syndrome to novel descriptions of CUL4B-related phenotypes in males and a female". Paper presented in SPGH 2020, 2020.
  33. Celia Azevedo Soares. "Biopsychosocial profile of 148 phenylketonuria patients followed-up at CGM/CHUPorto throughout life". Paper presented in 16th international symposium of SPDM, 2020.
  34. Celia Azevedo Soares. "Sindrome de Baraitser-Winter um diagnóstico raro". Paper presented in 1as jornadas digitais da Pediatria, 2020.
  35. Celia Azevedo Soares. "E-P08.14 - Early neurodevelopmental milestones acquisition in fragile X syndrome, a caregivers online report". Paper presented in ESHG 2020, 2020.
  36. Celia Azevedo Soares. "P22.37.A - The Young Geneticists Network (YGN): using social media to unite trainees in Human Genetics around the world". Paper presented in ESHG 2021, 2020.
  37. Celia Azevedo Soares. "P14.12.B - Detailed cytogenetic analysis of a preconception adult male sample revealed clonal evolution and (probably) changed his life". Paper presented in ESHG 2020, 2020.
  38. Natália Oliva-Teles; S Pires; M Mota Freitas; Cristina Candeias; E Lopes; P Oliveira; A Gavina; et al. "Detailed Cytogenetic Analysis of a Preconception Adult Male Sample Revealed Clonal Evolution and (Probably) Changed his Life". 2020.
  39. Celia Azevedo Soares. "From genetic diagnosis to characterization of individual development potential of individuals with Klinefelter syndrome: contribution of clinical psychological integrated into a medical genetics service". Paper presented in XLVIII Conferências de Genética Doutor Jacinto Magalhães, 2020.
  40. Celia Azevedo Soares. "40 years of early diagnosis in Portugal – biopsychosocial profile of 149 phenylketonuria patients followed at CGM/CHUP throughout life". Paper presented in XLVIII Conferências de Genética Doutor Jacinto Magalhães, 2020.
  41. Celia Azevedo Soares. "Early neurodevelopmental milestones acquisition in fragile X syndrome, a caregivers´ online report". Paper presented in XLVIII Conferências de Genética Doutor Jacinto Magalhães, 2020.
  42. Celia Azevedo Soares. "Phenotypic characterization of three patients with SYNGAP1 variants". Paper presented in XLVIII Conferências de Genética Doutor Jacinto Magalhães, 2020.
  43. Celia Azevedo Soares. "Phenotypic characteristics of two patients with mandibulofacial dysostosis - Guion Almeida type". Paper presented in 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2019.
  44. Celia Azevedo Soares. "Heterogeneidade fenotípica – a propósito de uma deleção". Paper presented in 20.º Congresso Nacional de Pediatria, 2019.
  45. Celia Azevedo Soares. "Predicting factors of neurodevelopment performance of children with phenylketonuria at age 6: retrospective cohort study". Paper presented in SSIEM Annual Symposium 2019, 2019.
  46. Celia Azevedo Soares. "Clinical description of a male patient with tall stature, intellectual disability, and seizures with an ARHGEF9 deletion". Paper presented in European Human Genetics Conference 2019, 2019.
  47. Celia Azevedo Soares. "Trimetilaminúria - experiência em hospital terciário". Paper presented in 19.º Congresso Nacional de Pediatria, 2018.
  48. Celia Azevedo Soares. "Clinical description of an osteogenesis imperfecta cohort on a tertiary care unit". Paper presented in 15º Simpósio da Sociedade Portuguesa de Doenças Metabólicas, 2018.
  49. Celia Azevedo Soares. "Clinical follow-up of pediatric patients with osteogenesis imperfecta treated with bisphosphonates". Paper presented in 15º Simpósio da Sociedade Portuguesa de Doenças Metabólicas, 2018.
  50. Celia Azevedo Soares. "Factors associated with the neuropsychometric performance at age 6 in children with phenylketonuria: retrospective cohort study.". Paper presented in Harvard Medical School Portugal - workshop, 2018.
  51. Celia Azevedo Soares. "Factors associated with the performance on the Griffith’s mental development scale at age 6 in children with phenylketonuria: retrospective cohort study". Paper presented in XLVII Conferências de Genética Dr. Jacinto Magalhães – Genética na Endocrinologia e Metabolismo, 2018.
  52. Celia Azevedo Soares. "Phenotypic description of patients with chromosome 3q29 deletion or duplication". Paper presented in 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2018.
  53. Celia Azevedo Soares. "Female FMR1 full-mutation carriers: clinical and molecular characterization". Paper presented in 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2018.
  54. Celia Azevedo Soares. "Phenotypic comparison of patients with Pitt-Hopkins syndrome with two common differential diagnosis.". Paper presented in SPGH 2017, 2017.
  55. Celia Azevedo Soares. "Retinal ganglion cell genesis and subtype determination in the binocular circuit". Paper presented in Society for Neuroscience, 2015.
  56. Celia Azevedo Soares. "Retinal ganglion cell genesis and subtype determination in the binocular circuit". Paper presented in Society for Neuroscience, 2014.
  57. Celia Azevedo Soares. "Axonal projections of the dorsocentral ipsilateral retinal ganglion cells". Paper presented in Society for Neuroscience, 2013.
  58. Celia Azevedo Soares. "The First Ganglion Cells that Project Ipsilaterally in the Mouse Visual System". Paper presented in Gordon Conference - Neural Development, 2012.
  59. Celia Azevedo Soares. "The First Ganglion Cells that Project Ipsilaterally in the Mouse Visual System". Paper presented in Cold Spring Harbor Meeting - Axon Guidance, Synapse Formation & Regeneration, 2012.
Journal article
  1. Nogueira, Diogo; Celia Azevedo Soares. "On the Power of Data Visualization in Transforming Patient Decision-Making". Acta Médica Portuguesa (2024): http://dx.doi.org/10.20344/amp.21904.
    Published • 10.20344/amp.21904
  2. Quental, Rita; Pinho, Diana; Tkachenko, Natália; Gonzaga, Diana; Mota, Maria do Céu; Garrido, Cristina; Carmona, Carla; et al. Corresponding author: Celia Azevedo Soares. "Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication". Egyptian Journal of Medical Human Genetics 25 1 (2024): http://dx.doi.org/10.1186/s43042-024-00575-6.
    10.1186/s43042-024-00575-6
  3. Marta, Ana; Ferreira, André; Couto, Inês; Neves, Miguel; Gomes, Miguel; Oliveira, Luis; Celia Azevedo Soares; et al. "Corneal Biomechanical Changes in Patients with Inherited Retinal Diseases". Clinical Ophthalmology Volume 18 (2024): 2611-2618. http://dx.doi.org/10.2147/opth.s478846.
    10.2147/opth.s478846
  4. Marta, Ana; Marques, João Pedro; Santos, Cristina; Coutinho-Santos, Luísa; Vaz-Pereira, Sara; Costa, José; Arede, Pedro; et al. "The socioeconomic epidemiology of inherited retinal diseases in Portugal". Orphanet Journal of Rare Diseases 19 1 (2024): http://dx.doi.org/10.1186/s13023-024-03161-6.
    10.1186/s13023-024-03161-6
  5. P. Antunes, Marta; Tkachenko, Natália; Soares, Ana R.; Fernandes, Graça; Fortuna, Ana M.; Celia Azevedo Soares. "Autism spectrum disorder and PTEN hamartoma tumor syndrome - Child and adolescent psychiatric perspective". Portuguese Journal of Pediatrics 55 2 (2024): http://dx.doi.org/10.24875/pjp.m24000439.
    10.24875/pjp.m24000439
  6. Celia Azevedo Soares. "Atypical predominance of vertebral fractures as the first sign of COL1A2-related osteogenesis imperfecta.". Pediatric Oncall Journal (2024): https://doi.org/10.7199/ped.oncall.2026.4.
    Published
  7. Cortinhal, Telmo; Santos, Cristina; Vaz-Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, José; et al. "Genetic profile of syndromic retinitis pigmentosa in Portugal". Graefe's Archive for Clinical and Experimental Ophthalmology (2024): http://dx.doi.org/10.1007/s00417-023-06360-2.
    10.1007/s00417-023-06360-2
  8. Da Silva, Jorge Diogo; Pereira, Ângela; Soares, Ana Rita; Guimas, Arlindo; Rocha, Sara; Cardoso, Márcio; Garrido, Cristina; et al. "Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V". Pediatric Research (2023): http://dx.doi.org/10.1038/s41390-023-02943-1.
    10.1038/s41390-023-02943-1
  9. Marta, Ana; Miranda, Vasco; Lume, Miguel; Parreira, Ricardo; Celia Azevedo Soares; Menéres, Maria João; Lemos, Carolina; Melo Beirão, João. "THE VISUAL IMPAIRMENT OF INHERITED RETINAL DISEASES IN PORTUGAL ACCORDING TO THE NATIONAL TABLE OF DISABILITIES". Ophthalmology Science (2023): 100443. http://dx.doi.org/10.1016/j.xops.2023.100443.
    10.1016/j.xops.2023.100443
  10. Soares, Célia Azevedo; Tkachenko, Natália; Vale-Fernandes, Emídio; Barreiro, Márcia; Abreu, Maria; Reis, Cláudia Falcão; Soares, Gabriela; Fortuna, Ana Maria; Soares, Ana Rita. "Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center". JBRA Assisted Reproduction (2023): http://dx.doi.org/10.5935/1518-0557.20220012.
    Published • 10.5935/1518-0557.20220012
  11. Azevedo Soares, Célia; Ferreira Almeida, Manuela; Soares, Gabriela; Tkachenko, Natália; Fortuna, Ana Maria; Carmona, Carla. "Predicting factors of neurodevelopmental performance in children with phenylketonuria". American Journal of Medical Genetics Part A (2023): http://dx.doi.org/10.1002/ajmg.a.63174.
    10.1002/ajmg.a.63174
  12. Soares, Ricardo Machado; Carvalho, Ana Luísa; Simão, Sílvia; Soares, Célia Azevedo; Raimundo, Miguel; Alves, C Henrique; Ambrósio, António Francisco; et al. "EYS-ASSOCIATED RETINAL DEGENERATION: NATURAL HISTORY, GENETIC LANDSCAPE AND PHENOTYPIC SPECTRUM". Ophthalmology Retina (2023): http://dx.doi.org/10.1016/j.oret.2023.02.001.
    Accepted • 10.1016/j.oret.2023.02.001
  13. Riccardi, Florence; Marcinkute, Ruta; Azevedo Soares, Celia; Calapod, Patricia Stefana; Cerqueira, Juliana Miranda; Avram, Elena; Ding, Can. "The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community". European Journal of Human Genetics (2022): http://dx.doi.org/10.1038/s41431-021-01019-0.
    10.1038/s41431-021-01019-0
  14. Maia, Nuno; Nabais Sá, Maria João; Oliveira, Cláudia; Santos, Flávia; Soares, Célia Azevedo; Prior, Catarina; Tkachenko, Nataliya; et al. "Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?". Genes 13 1 (2021): 78. http://dx.doi.org/10.3390/genes13010078.
    Open access • 10.3390/genes13010078
  15. Sá Silva, José; Alves, José E.; Azevedo Soares, Célia; Tkachenko, Natália; Garrido, Cristina. "Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency". Clinical Dysmorphology Publish Ah (2021): http://dx.doi.org/10.1097/mcd.0000000000000398.
    10.1097/mcd.0000000000000398
  16. Tobias, Edward S.; Avram, Elena; Calapod, Patricia; Cordier, Christophe; den Dunnen, Johan T.; Ding, Can; Dolzan, Vita; et al. "The Role of the European Society of Human Genetics in Delivering Genomic Education". Frontiers in Genetics 12 (2021): http://dx.doi.org/10.3389/fgene.2021.693952.
    10.3389/fgene.2021.693952
  17. Uguen, Kévin; Krysiak, Kilannin; Audebert-Bellanger, Séverine; Redon, Sylvia; Benech, Caroline; Viora-Dupont, Eléonore; Tran Mau-Them, Frederic; et al. "Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly". Clinical Genetics 100 4 (2021): 386-395. http://dx.doi.org/10.1111/cge.14015.
    Published • 10.1111/cge.14015
  18. Barbosa-Breda, João; Leal, Inês; Sousa, David Cordeiro; Soares, Célia Azevedo. "Why Should SARS-CoV-2 Post-Pandemic Recovery Funding Be Used to Foster a Physician-Scientist Program?". Acta Médica Portuguesa 33 13 (2020): http://dx.doi.org/10.20344/amp.14421.
    10.20344/amp.14421
  19. Marcucci, Florencia; Soares, Célia A.; Mason, Carol. "Distinct timing of neurogenesis of ipsilateral and contralateral retinal ganglion cells". Journal of Comparative Neurology 527 1 (2018): 212-224. http://dx.doi.org/10.1002/cne.24467.
    10.1002/cne.24467
  20. Kuwajima, T.; Soares, C.A.; Sitko, A.A.; Lefebvre, V.; Mason, C.. "SoxC Transcription Factors Promote Contralateral Retinal Ganglion Cell Differentiation and Axon Guidance in the Mouse Visual System". Neuron 93 5 (2017): 1110-1125.e5. http://www.scopus.com/inward/record.url?eid=2-s2.0-85012866371&partnerID=MN8TOARS.
    10.1016/j.neuron.2017.01.029
  21. Soares, C.A.; Incio, J.; Ferreira, M.R.; Barbosa-Breda, J.; Páris, L.; Sandoval, J.L.. "On the future of portuguese physician-scientists | Sobre o futuro dos médicos-cientistas Portugueses". Acta Medica Portuguesa 29 12 (2016): 793-795. http://www.scopus.com/inward/record.url?eid=2-s2.0-85008319843&partnerID=MN8TOARS.
    10.20344/amp.8388
  22. Soares, C.A.; Mason, C.A.. "Transient ipsilateral retinal ganglion cell projections to the brain: Extent, targeting, and disappearance". Developmental Neurobiology 75 12 (2015): 1385-1401. http://www.scopus.com/inward/record.url?eid=2-s2.0-84943643516&partnerID=MN8TOARS.
    10.1002/dneu.22291
Newsletter article
  1. Celia Azevedo Soares. "PhD: quando e como?", Newsletter Sociedade Portuguesa de Oftalmologia, 2020
Newspaper article
  1. Celia Azevedo Soares. "O “gene gay” ou o gene para gostar de ancas largas", P3, 2024, https://www.publico.pt/2024/11/05/p3/cronica/gene-gay-gene-gostar-ancas-largas-2110458.
  2. Celia Azevedo Soares. "Sexo em espectro", P3, 2021, https://www.publico.pt/2021/07/12/p3/cronica/sexo-espectro-1970121.
  3. Celia Azevedo Soares. "Carta a um(a) caloiro(a) em ascensão social", Público, 2020, https://www.publico.pt/2020/09/04/p3/cronica/carta-caloiroa-ascensao-social-1930262.
Thesis / Dissertation
  1. Soares, Celia. "Fate of the earliest retinal ganglion cells during the development of the visual system". PhD, Universidade do Minho, 2017.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2024/11/17 Medical Genetics - role on the journey of the person with tuberous sclerosis Encontro da associação portuguesa de esclerose tuberosa
(Portugal)
2024/06/27 Ferramentas de Inteligência Artificial no diagnóstico e tratamento das Doenças Hereditárias do Metabolismo CMIN Summit 2024
(Portugal)
2024/05/30 Ida Mann´s pioneer interdisciplinary approach: bridging the fields of embryology, genetics, and ophthalmology Workshop on History in Genetics
European Society of Human Genetics (Berlin, Germany)
2024/05/25 Three decades in review - exploring predictors of neurodevelopment in phenylketonuria patients 2024 Global Rare Diseases Research Symposium & The Second China Rare Diseases Research and Translational Medicine Annual Conference
Hope4Rare (Shanghai, China)
2024/05/13 Navigating the complexity of DMD duplications in healthy individuals: a case of variant interpretation challenges in carrier screening 15th international symposium on variants in the genome
HUGO (Porto, Portugal)
2024/04/28 Roundtable - Designing Humanity: ethical reflections on gene editing and eugenics Designing Humanity: ethical reflections on gene editing and eugenics
ICBAS (Portugal)
2024/04/23 Deteção de doenças raras - Como contribuir para a identificação precoce? Webinar Ordem Farmaceuticos e RD-Portugal
Ordem dos Farmaceuticos (Portugal)
2024/04/12 Research for clinical fellows Clinical fellowships
Unidade Local de Saude de Sto Antonio (Portugal)
2024/04/08 Conceitos básicos em Genética Humana Curso de Ciências Básicas da Oftalmologia
Sociedade Portuguesa de Oftalmologia (Lisboa, Portugal)
2024/04/04 Para além da odisseia de diagnóstico - importância de centros de referência em Portugal SATB2 Portugal
SATB2 Portugal (Lisboa, Portugal)
2023/10/28 Inherited Retinal Dystrophies: The diagnosis you can't miss GPRV Meeting
Portuguese Society of Ophthalmology and the Portuguese Group of Retina and Vitreous (Portugal)
2023/10/13 Aconselhamento genético em diferenças da diferenciaçao sexual Encontro de internos de Genética Médica
(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 Científica da Associação Portuguesa de Diagnóstico Pré-Natal
(Portugal)
2023/06/29 Unraveling osteogenesis imperfecta and its differential diagnosis – monocentric retrospective cohort study of 94 patients with clinical suspicion of osteogenesis imperfecta 4th meeting of rare bone diseases
(Portugal)
2023/06 Variable phenotypic expression of the m.8993T>G pathogenic variant in a family UK-EGG Annual Conference Edinburgh 2023
UK Eye Genetics Group (Edimburgo, United Kingdom)
2023/05 CTNNB1-ASSOCIATED NEURODEVELOPMENTAL DISORDER – UM DIAGNÓSTICO DIFERENCIAL DE PARALISIA CEREBRAL QUE MELHOROU COM LEVODOPA - coautora 17º Congresso da Sociedade Portuguesa de Neuropediatria
(Portugal)
2023/03 Clinical and laboratory findings in glycogen storage disease type v: results from a retrospective observational study in a tertiary hospital - coautora 19th International Symposium of the Portuguese Society for Metabolic Disorders
(Portugal)
2023/03 Forty-three years after the start of neonatal screening in Portugal: the results of a retrospective cohort study with 113 adult PKU patients - coautora 19th International Symposium of the Portuguese Society for Metabolic Disorders
2022/12 Genetic landscape of syndromic retinitis pigmentosa in Portugal - coautora 65º Congresso Português de Oftalmologia
(Portugal)
2022/10/15 Oftalmogenética - perspectiva do geneticista Reunião do Grupo Português de Retina e Vítreo
Sociedade Portuguesa de Oftalmologia (Funchal)
2022/10/13 Oftalmogenética - conceitos básicos em Genética Médica
Novartis (Funchal, Portugal)
2022/10 Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center ESHG - Next-Generation Reproductive Medicine
(Netherlands)
2022/09 Male with multiple malformations and no etiological diagnosis Eurodysmophology
ERN-ITHACA (Spain)
2022/06 ESHG Dysmorphology Club - Short stature and dysmorphism
(Austria)
2022/06 ESHG Dysmorphology Club – Losing all her senses
2021/10/27 Genetic counseling of candidates for gamete donation at a public bank World Congress on Genetic Counselling
Wellcome Genome Campus (United Kingdom)
2021/09/09 Genotypic and phenotypic features of the mothers of children with mtDNA-associated Leigh syndrome Sociedade Portuguesa de Doenças Metabólicas
(Portugal)
2020/12/11 Considerações ético-legais sobre a realização de testes genéticos em menores de idade Rerviço de Pediatria, CMIN/CHUPorto, Porto
(Portugal)
2020/06/17 Genética e Oftalmologia – conceitos básicos Serviço Oftalmologia, CHUPorto
(Portugal)
2020/01/30 Female with CUL4B-related phenotype Workshop on genetics of neurological disorders
MINDDS e CGMJM/CHUPorto (Portugal)
2019/11/22 Young Geneticists Network ERN-ITHACA Board meeting
ERN-ITHACA (Dusseldorf, Germany)
2019 Agénésie de la vésicule bilier et du pancréas Fetal Pathology Grand Rounds
(Paris, France)
2019 Tubulinopathies - a review Fetal Pathology Grand Rounds
(Paris, France)
2019 Early neurodevelopmental milestones acquisition in fragile X syndrome: a caregiver’s online report 4th International Conference on Fragile-X Syndrome
(Sintra, Portugal)
2018 From the raw clinical data to the genetic diagnosis: a medical approach UMIB monthly talks
Unit for Multidisciplinary Research in Biomedicine. (Porto, Portugal)
2018 Epidemiologia Genética - oportunidades para a Saúde Pública X National Meeting of Public Health residents
(Guimarães, Portugal)
2018 Clinical Genetics: a perspective from Portugal Genetics Grand Rounds
John Hopkins Medicine (Baltimore, United States)
2018 A Portuguese boy with progressive skeletal dysplasia and normal intelligence 17th International Postgraduate Course on Lysosomal Storage Disorders
(Nierstein, Germany)
2015 Fate of the first-born retinal ganglion cells after growing to the brain European MD/PhD Association Conference
European MD/PhD Association (Netherlands)

Event organisation

Event name
Type of event (Role)
Institution / Organization
2024/06/02 - 2024/06/02 Workshop - Prenatal reporting of carrier status (2024/06/02 - 2024/06/02)
Workshop (Member of the Organising Committee)
European Society of Human Genetics, Austria
2024/04/26 - 2024/04/26 Workshop - Diagnostic challenges em rare diseases (2024/04/26 - 2024/04/26)
Workshop (Co-organisor)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021/08/30 - 2021/08/30 Chair of Educational Session at European Society of Human Genetics Annual Meeting. Topic: Human organoids as genetic disease models (2021/08/28 - 2021/08/31)
Conference (Co-organisor)
2020/06/07 - 2020/06/07 Workshop organization at the European Society of Human Genetics Annual Conference, about Professional Skills for the next generation of human geneticists (2020/06/06 - 2020/06/09)
Conference (Co-organisor)
European Society of Human Genetics, Austria
2015 - 2015 4th Meeting of the Portuguese Graduates Abroad (2015 - 2015)
Meeting (Member of the Organising Committee)
2010 - 2010 Minho Medical Students Association 1st Science and Technology Meeting – Nanotechnology (2010 - 2010)
Conference (President of the Organising Committee)

Event participation

Activity description
Type of event
Event name
Institution / Organization
2024/11/27 - 2024/11/29 Annual Board Meeting - MetabERN - Budapest
Meeting
2024/09/27 - 2024/09/28 12º Congresso Português de Doenças Neuromusculares
Conference
2024/07/19 - 2024/07/19 I Encontro Nacional sobre Prescrição Cultural
Congress
I Encontro Nacional sobre Prescrição Cultural
2024/07/15 - 2024/07/15 Case-based learning methodology
Workshop
2024/06/01 - 2024/06/04 European Society of Human Genetics 2024
Conference
2024/05 - 2024/05 ISV2024 - HUGO meeting
Conference
ISV2024 - HUGO meeting
2024/05 - 2024/05 Workshop in the History of Genetics
Workshop
European Society of Human Genetics, Austria
2024/04/04 - 2024/04/05 EuroNDD 2024
Conference
EuroNDD 2024
ERN-ITHACA, France
2024/03/13 - 2024/03/15 Strategies to foster solutions of undiagnosed RD cases
Workshop
EJP RD Training on "Strategies to foster solutions of undiagnosed RD cases"
Istituto Superiore di Sanità, Italy
2024/02/01 - 2024/02/01 Workshop - Ciência de Dados na Saúde
Workshop
Centro Hospitalar Universitário do Porto EPE, Portugal
2023/09 - 2023/12 Digital Storytelling Course
Workshop
Ludwig-Maximilians-Universitat Munchen Center for International Health, Germany
2023/11/23 - 2023/11/25 27º reunião anual da Sociedade Portuguesa de Genética Humana
Meeting
2023/11/17 - 2023/11/17 3rd Symposium of the National Research Infrastructure for Genome Sequencing and Analysis - GenomePT Symposium 2023
Meeting
2023/11/17 - 2023/11/17 EUGLOH Alliance - Popular Science Lectures: Immersive Learning
Workshop
Popular Science Lectures: Immersive Learning
Universidade do Porto, Portugal
2023/09/28 - 2023/09/29 FAIRification of Data
Workshop
FAIRification of Data
European Joint Programme on Rare Diseases, France
2023/09/22 - 2023/09/22 O Ensino da Medicina em Mudança
Conference
O Ensino da Medicina em Mudança
Universidade NOVA de Lisboa, Portugal
2023/07/21 - 2023/07/23 6th World Conference on CDG
Conference
6th World Conference on CDG
Universidade NOVA de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2023/06/10 - 2023/06/13 European Society of Human Genetics 2023
Meeting
European Society of Human Genetics, Austria
2023/06/09 - 2023/06/09 UK-EGG Annual Conference Edinburgh 2023
Meeting
UK-EGG Annual Conference Edinburgh 2023
UK Eye Genetics Group, United Kingdom
2023/05/20 - 2023/05/20 20th meeting of the Portuguese Society of Neurofibromatosis
Meeting
Portuguese Society of Neurofibromatosis, Portugal
2023/05/06 - 2023/05/06 First Fanconi Anemia meeting in Portugal
Meeting
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023/04/24 - 2023/04/25 SSIEM Academy 2023
Workshop
Society for the Study of Inborn Errors of Metabolism, United Kingdom
2023/04/20 - 2023/04/21 EuroNDD Workshop
Workshop
ERN-ITHACA, France
2023/03 - 2023/04 Course - Data Visualization and Data Storytelling
Workshop
Universidade do Porto Faculdade de Letras, Portugal
2023/03/30 - 2023/03/31 Precaridade no contexto académico
Round table
Universidade do Porto Faculdade de Letras, Portugal
2022/11/30 - 2022/11/30 Fórum Medicina de Precisão em Oncologia
Conference
Universidade do Porto Faculdade de Medicina, Portugal
2022/11 - 2022/11 Course - Health and Science Communication
Workshop
Universidade do Porto Faculdade de Letras, Portugal
2022/07/18 - 2022/07/28 Virtual McKusick Short Course
Symposium
Virtual McKusick Short Course
The Jackson Laboratory, United States
2022/06/27 - 2022/06/28 SSIEM Academy 2022
Workshop
SSIEM Academy 2022
Society for Inherited Metabolic Disorders, United States
2022/06/06 - 2022/06/06 De que Forma o Regulamento Geral de Proteção de Dados (RGPD) impactou a Investigação Genómica? O Caso Português
Seminar
Universidade de Lisboa Instituto de Medicina Preventiva e Saúde Pública, Portugal
2021/10 - 2022/02 Introduction to Global Health - European University Alliance for Global Health (Postgraduate Certificate)
Other
Ludwig-Maximilians-Universitat Munchen Center for International Health, Germany
2021/10/02 - 2021/10/06 Fifth ESHG Training Course on Cardiogenetics
Workshop
Fifth ESHG Training Course on Cardiogenetics
European Society of Human Genetics, Austria
2021/09/30 - 2021/10/01 Curso Neurología Pediátrica Campus Valld’Hebron . Terapias emergentes
Workshop
Curso Neurología Pediátrica Campus Valld’Hebron . Terapias emergentes
Vall d¿Hebron Hospital Universitari, Spain
2021/09/23 - 2021/09/24 ESHG Course on Hereditary Cancer
Workshop
ESHG Digital Course on Hereditary Cancer
European Society of Human Genetics, Austria
2021/09/08 - 2021/09/10 17th International Symposium pf the Portuguese Society of Metabolic Disorders
Symposium
17th I N T E R N A T I O N A L S Y M P O S I U M O F T H E P O R T U G U E S E S O C I E T Y F O R M E T A B O L I C D I S O R D E R S
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2021/07/31 - 2021/08/01 5th European Aniridia Conference
Conference
5th European Aniridia Conference
Moorfields Eye Hospital NHS Foundation Trust, United Kingdom
2021/05/15 - 2021/05/15 22º Curso de Formação Pós-Graduada em Neuropediatria – Doenças Metabólicas
Workshop
Sociedade Portuguesa de Neuropediatria, Portugal
2021/05/06 - 2021/05/11 33rd Course on Clinical Genomics and NGS
Workshop
33rd Course on Clinical Genomics and NGS
European Society of Human Genetics, Austria
2021/03/21 - 2021/03/23 Comunicação Clínica para Médicos
Workshop
Centro Hospitalar Universitário do Porto EPE, Portugal
2021/02/12 - 2021/02/12 20º Curso de Formação Pós-Graduada em Neuropediatria - Neuro-Oftalmologia Pediátrica
Workshop
Sociedade Portuguesa de Neuropediatria, Portugal
2021 - 2021 SEA-IEM 2ND South European Academy Nutrition Education of IEM
Workshop
SEA-IEM 2ND South European Academy Nutrition Education of IEM
South European Academy Nutrition Education of IEM, Italy
2020/11/30 - 2020/12/02 Mitochondrial Medicine 2020
Conference
Welcome Genome Campus Advanced Courses and Scientific Conferences, United Kingdom
2020/11/27 - 2020/11/27 Kick-off symposium of the RARE-MED consortium
Symposium
Universiteit Gent, Belgium
2020/11/20 - 2020/11/20 24ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Conference
Sociedade Portuguesa de Genética Humana, Portugal
2020/11/06 - 2020/11/06 VIII Reunião de Neurogenética "Doenças Mitocondriais: e quando a energia falha?"
Conference
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2020/10/05 - 2020/10/05 Inherited Gastrointestinal Cancers and Genetic Testing
Conference
Columbia University Vagelos College of Physicians and Surgeons, United States
2020/06/06 - 2020/06/09 European Human Genetics Conference 2020
Conference
European Society of Human Genetics, Austria
2020/04/21 - 2020/04/21 Genetic Testing for Inherited Retinal Diseases
Symposium
Canadian National Institute for the Blind
CNIB, Canada
2020/01/31 - 2020/01/31 XLVIII Conferências de Genética Doutor Jacinto Magalhães
Conference
Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2020/01/30 - 2020/01/30 Workshop on genetics of neurological disorders - MINDDS COST Network
Workshop
2020 - 2020 A003- Understanding and Addressing Vision Loss
Other
Lighthouse Guild, United States
2019/11/22 - 2019/11/22 ERN-ITHACA board meeting
Meeting
ERN-ITHACA, France
2019/11/14 - 2019/11/16 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Conference
Sociedade Portuguesa de Genética Humana, Portugal
2019/10/23 - 2019/10/25 Quality assurance, variant interpretation and data management in the NGS diagnostics era
Workshop
European Joint Programme for Rare Diseases, Belgium
2019/10/12 - 2019/10/13 4th International Conference on Fragile-X Syndrome
Conference
APSXF - Associação Portuguesa da Síndrome do X-Frágil, Portugal
2019/09/22 - 2019/09/24 6th Course in Eye Genetics
Workshop
European Society of Human Genetics, Austria
2019/09/03 - 2019/09/06 SSIEM Annual Symposium 2019
Conference
Society for the Study of Inborn Errors of Metabolism, United Kingdom
2019/06/15 - 2019/06/18 European Human Genetics Conference 2019
Conference
European Society of Human Genetics, Austria
2019/04/18 - 2019/04/18 3eme jeudi – Fragilités Osseuses Constitutionnelles
Conference
L’Association Francophone de Génétique Clinique, France
2019/03/16 - 2019/03/16 Managing PKU During Life
Conference
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2019/03/14 - 2019/03/16 15º Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas
Conference
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2019 - 2019 Non-Invasive Prenatal Testing (NIPT): An Introduction for Healthcare Professionals
Other
St. George´s, University of London, United Kingdom
2019 - 2019 Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing
Other
St. George´s, University of London, United Kingdom
2019 - 2019 Clinical Bioinformatics: Unlocking Genomics in Healthcare
Workshop
The University of Manchester School of Health Sciences, United Kingdom
2018/11/30 - 2018/12/01 Del genoma a la medicina de precisión en los trastornos del movimento
Conference
Vall d¿Hebron Hospital Universitari, Spain
2018/05/30 - 2018/06/02 17th International Postgraduate Course on Lysosomal Storage Disorders
Workshop
Universitätsmedizin der Johannes Gutenberg-Universität Mainz III Medizinische Klinik und Poliklinik, Germany
2018/05 - 2018/05 XLVII Conferências de Genética Dr. Jacinto Magalhães – Genética na Endocrinologia e Metabolismo
Conference
Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2018 - 2018 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Conference
Sociedade Portuguesa de Genética Humana, Portugal

Jury of academic degree

Topic
Role
Candidate name (Type of degree)
Institution / Organization
2024/06/19 TRPV4 skeletal disorders: assessment of phenotypic spectrum and impact on quality of life of Portuguese patients
(Thesis) Main arguer
Ana Sofia Martins Correia (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Association member

Society Organization name Role
2019 - Current European Society of Human Genetics - Young Board Elected Board Member
2017 - Current Sociedade Portuguesa de Genética Humana Member
2012 - Current Alumni Medicina – Núcleo de Antigos Estudantes de Medicina da Universidade do Minho Sócia benemérita
2015 - 2018 European MD/PhD Association Representative
2015 - 2016 Portuguese American Post-graduate Society Alumni Chapter Leader
2012 - 2013 Society for Neuroscience Member

Committee member

Activity description
Role
Institution / Organization
2024/06 - Current MetabERN
2024/06 - Current ERN-NMD
2023/01 - Current SATB2 scientific consortium
Member
2022/02 - Current Scientific board member - RD Portugal - União de Associações de doenças raras
Advisor / Consultant
2021/02/01 - 2025/02/01 European Society of Human Genetics Education Committee
Member
European Society of Human Genetics, Austria
2019/06 - 2021/08 European Society of Human Genetics Young Committee - founder member
Member
European Society of Human Genetics, Austria

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2024/09 - Current Chair - CIÊNCIAS SOCIAIS, HUMANIDADES, ARTE E INVESTIGAÇÃO I Medicine (Mestrado integrado) Universidade de Aveiro, Portugal
2023 - Current Genética Médica Medicina (Mestrado integrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023 - Current Genética Médica Aconselhamento Genético (Mestrado integrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023 - Current Genética Médica Bioquímica (Mestrado integrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2022 - Current Citogenética Animal Medicina Veterinária (Licenciatura) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 - Current Genómica na Medicina- opcional Medicina (Mestrado integrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 - Current Introdução à Medicina Medicina (Mestrado integrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2024/11/15 - 2024/12/13 6º curso em Genética Clinica e Laboratorial (Outros) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2024/10/11 - 2024/10/11 Neural Development - postgraduate education in Neuroscience Neuroscience (Postgraduate Certificate) Szegedi Tudományegyetem, Hungary
2024/09/22 - 2024/09/22 Bootcamp - simplifying complex themes - how to prepare for a medical genetics appointment (Outros)
2023/12/13 - 2023/12/13 Formação Centro Clinico Académico - Medicina Genómica (Outros) Universidade de Aveiro, Portugal

Evaluation committee

Activity description
Role
Institution / Organization Funding entity
2024/06 - Current ERN-NMD
2023/02 - 2023/06 European Reference Networks Assessments
Evaluator

Interview (newspaper / magazine)

Activity description Newspaper / Forum
2024/02/11 PN Reads - International Day of Women and Girls in Science 2024 PN Reads

Interview (tv / radio show)

Program Topic
2022/04/08 - Current Genetic Sounds Let's talk about access to genetic services
2024/09/23 - 2024/09/23 Neurotalks - podcast Clinical Research
2021 - 2021 Medicopatias A especialidade de Genética Médica

Journal scientific committee

Journal title (ISSN) Publisher
2024 - Current Egyptian Journal of Medical Human Genetics

Mentoring / Tutoring

Topic Student name
2023/09 - 2024/06 Professionalizing rotation Diogo Nogueira
2023/01 - 2023/03 Estágio opcional Genética Médica Rita Quental
2022/05 - 2022/06 Estágio opcional Genética Médica Marta Antunes
2013 - 2013 BRAINYAC Program (Brain Research Apprenticeships In New York At Columbia), Dinardo Rodriguez
Distinctions

Award

2024 Best poster presentation - A HEALTHY FEMALE WITH A DMD DUPLICATION IN CARRIER SCREENING - CHALLENGES IN VARIANT INTERPRETATION AND CLINICAL MANAGEMENT
Sociedade Portuguesa de Estudos de Doenças Neuromusculares, Portugal
2024 Best scientific publication in translational medicine - ULS coimbra
Unidade Local de Saúde de Coimbra, Portugal
2023 Prémio Pediatria - TRATAMENTO COM BIFOSFONATOS NA OSTEOGÊNESE IMPERFEITA
Pfizer AG, Switzerland
2022 Menção honrosa - Partial ornithine transcarbamylase deficiency in three generations with variable phenotype in males
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2021 Menção honrosa - Genotypic and phenotypic features of the mothers of children with mtDNA-associated Leigh syndrome
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2020 Best oral communication - 2nd place (co-author)
Centro Hospitalar Universitário Lisboa Norte EPE, Portugal

Other distinction

2021 Annual conference fellowship - ESHG 2021
European Society of Human Genetics, Austria
2021 Course fellowship - 5thTraining Course on Cardiogenetics
European Society of Human Genetics, Austria
2019 Course fellowship - 6TH COURSE IN EYE GENETICS
European Society of Human Genetics, Austria