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Xavier Jorge is currently a research technician in the Chromosomal Segregation in Disease laboratory led by Dr. Sara Carvalhal at the Algarve Biomedical Center – Research Institute (ABC-Ri). He holds a BSc in Biochemistry (180 ECTS, final grade: 14/20) and an MSc in Oncobiology— Molecular Mechanisms of Cancer (120 ECTS, final grade: 17/20), both from the University of Algarve. During his undergraduate studies, Xavier completed a final-year research project titled Spectroscopic Studies on the Solubility of Trehalose and Cellobiose in Aqueous Media (project grade: 17/20), where he identified an alternative aggregation structure in trehalose. Following his graduation in 2020, he joined the Algarve Biomedical Center's COVID-19 task force as a clinical analysis technician, performing serological testing and contributing to the national preschool screening program. In 2021, he began his MSc thesis in Dr. Carvalhal’s lab, focusing on the molecular mechanisms underlying erroneous chromosome segregation in Warsaw Breakage Syndrome (WABS), a rare cohesinopathy. His work highlighted the mislocalization of Topoisomerase II alpha as a potential contributor to WABS pathophysiology. He completed the thesis with a final grade of 19/20. Since completing his MSc, Xavier has remained in the lab as a technician, initially supported by a Maratona da Saúde grant (FCT-funded) and currently by the NeuRare grant (AD-ABC-funded). He has provided imaging and experimental support to multiple projects, including BBBrain (FCT-funded) and NeuRare, both of which investigate how mitotic defects impact brain development and disease. Xavier has developed strong expertise in advanced fluorescence microscopy, chromosome spreading, cell culture, and quantitative image analysis. He has presented his work at a total of seven institutional seminars and has delivered poster presentations at Ageing Without Borders, the Society for Stem Cells and Cell Therapies, and the 27th Annual Meeting of the Sociedade Portuguesa de Genética Humana, both as first author. The latter presentation was published as an abstract proceeding (http://hdl.handle.net/10400.14/52885). He is also the first author of a short review article published in UALGoritmo institutional magazine and second author on a lab resource article in Stem Cell Research (DOI: 10.1016/j.scr.2024.103594). He also completed the European Joint Programme on Rare Diseases (EJP RD) training course on NGS diagnostics and was invited to co-teach a university-wide Hands-on Workshop in ImageJ, where he introduced macro scripting in FIJI/ImageJ for quantitative image analysis. Looking ahead, Xavier aims to deepen his research on brain diseases using advanced microscopy and to expand his scientific experience into in vivo models. His goal is to integrate molecular, imaging, and quantitative methods to better understand neurological disease mechanisms. He is applying for an FCT PhD Fellowship to pursue this research path under the joint supervision of Dr. Soraia Barão and Dr. Sara Carvalhal.
Identification

Personal identification

Full name
Xavier Santana Jorge

Citation names

  • Jorge, Xavier

Author identifiers

Ciência ID
9711-6069-4698
ORCID iD
0000-0002-1756-6735

Email addresses

  • xsjorge@ualg.pt (Professional)

Knowledge fields

  • Natural sciences - Biological Sciences

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Upper intermediate (B2) Advanced (C1) Advanced (C1) Advanced (C1) Intermediate (B1)
Education
Degree Classification
2020/09/08 - 2023/03/16
Concluded
ONCOBIOLOGIA - MECANISMOS MOLECULARES DO CANCRO (2.º Ciclo) (Mestrado)
Universidade do Algarve - Campus de Gambelas, Portugal
"The molecular mechanisms underlying erroneous segregation on Warsaw Breakage Syndrome" (THESIS/DISSERTATION)
17
2017/11/19 - 2020/06/26
Concluded
Bioquímica (Licenciatura)
Universidade do Algarve - Campus de Gambelas, Portugal
14
Affiliation

Science

Category
Host institution
Employer
2023/01 - Current Contracted Researcher (Research) AD-ABC, Portugal
Carvalhal Lab, ABC-Ri, Portugal
2021/10 - 2023/01 Researcher (Research) Universidade do Algarve Centro de Investigação em Biomedicina, Portugal

Others

Category
Host institution
Employer
2021/06 - 2021/10 Clinical Analysis Technician AD-ABC, Portugal
Projects

Grant

Designation Funders
2023/03 - Current Team member - Study of BUB1 in neurodevelopment: identification of new functions
2022.01028.PTDC
Researcher
Ongoing
2023/03 - Current Team member - neuRARE - Development of a pipeline into unravelling the molecular and cellular basis of rare neurologic diseases
JoãoLarguito ABC
Researcher
Algarve Biomedical Center Research Institute, Portugal
Ongoing
2023/03/01 - 2024/08/31 Estudo do BUB1 em neurodesenvolvimento: identificação de novas funções Fundação para a Ciência e a Tecnologia
Ongoing
2021/12 - 2023/03 Unraveling the contribution of mitotic failure in rare syndromes with microcephaly susceptibility.
Master Student Fellow
Algarve Biomedical Center Research Institute, Portugal
Ongoing

Other

Designation Funders
2019/11 - 2020/04 Estudos espectroscópicos acerca da solubilidade de trealose e celobiose em meio aquoso
0
Degree project
Concluded
Outputs

Publications

Conference poster
  1. Jorge, Xavier; Milagre, Inês ; Ferreira, Anita; Calado, Sofia ; Oliveira, Raquel; Carvalhal, Sara. "Common mechanistic pathways in rare congenital syndromes with primary microcephaly". Paper presented in 27th Annual Meeting - Sociedade Portuguesa de Genética Humana, 2023.
  2. Jorge, Xavier; Oliveira, Raquel A; Carvalhal, Sara. "New clues on the etiology of the Warsaw Breakage Syndrome". Paper presented in ABC-RI ORGANIZES ‘AGEING WITHOUT BORDERS’, 2022.
Journal article
  1. Ferreira, Anita; Calado, Sofia M.; Jorge, Xavier; de Lange, Job; Carvalhal, Sara. "Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene". Stem Cell Research 81 (2024): 103594. http://dx.doi.org/10.1016/j.scr.2024.103594.
    10.1016/j.scr.2024.103594
Magazine article
  1. Jorge, Xavier; Carvalhal, Sara. "Identificação e caracterização dos dois primeiros doentes com mutações bialélicas no gene BUB1", UALGoritmo A Ciência trocada por miúdos, 2022, https://ualgoritmo.wixsite.com/website/c%C3%B3pia-u4-2a3.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/02 Oral Talk at DevoStem Meeting @ ABC-RI: Microcephalic rare syndromes: from new candidate genes to their mechanisms ABC-Ri DevoStem
2022/04 Institucional Seminar @ ABC-Ri: Pizza Club - Microcephalic rare syndromes: from new candidate genes to their mechanisms. ABC-Ri Pizza Lab Club
2022/03 The molecular mechanisms underlining erroneous segregation on WABS Internal conference
AD-ABC

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2023/03 - 2023/04 Analysis of DNA topoisomerase 2-alpha localization in Robert's syndrome mitotic chromosomes
Co-supervisor
Algarve Biomedical Center Research Institute, Portugal

Event organisation

Event name
Type of event (Role)
Institution / Organization
2024/04/16 - 2024/04/16 Ualg Dia aberto 2024 -Desmistificar o Raro (2024/04/16 - 2024/04/16) Universidade do Algarve, Portugal
2024/04/11 - 2024/04/11 Hands-on workshop, "Quantification in ImageJ" (2024/04/11 - 2024/04/11) Carvalhal Lab, ABC-Ri, Portugal
2024/03 - 2024/03 Brain Awareness Week - Cérebro e Neurodiversidade, Compreender a Microcefalia Através de Dados: Potenciais Desafios na Divisão Celular Durante a Formação do Cérebro. (2024/03 - 2024/03)
Seminar
Carvalhal Lab, ABC-Ri, Portugal
2023/02/10 - 2023/02/10 Mind the Gap em doenças raras, Uma conversa informal para cientistas, médicos e associações de doenças rara com Dra. Maria João Leão e Dra. Célia Azevedo Soares (2023/02/10 - 2023/02/10)
Round table (Member of the Organising Committee)
Carvalhal Lab, ABC-Ri, Portugal

Event participation

Activity description
Type of event
Event name
Institution / Organization
2025/03/06 - 2025/03/06 Ação de Formação: Gestão Integrada Residuos Hospitalares
Ambimed – Gestão Ambiental, Lda., Portugal
2024/11/12 - 2024/11/12 ABC-RI International Forum 2024 “At the heart of the matter: Advances in cardiovascular research”
Seminar
ABC-RI International Forum 2024
Algarve Biomedical Center Research Institute, Portugal
2024/10/24 - 2024/10/24 Scientific Volume Imaging B.V. "Virtual Huygens Object Analysis Workshop"
Workshop
2024/04/16 - 2024/04/16 Ualg Dia aberto 2024 -Desmistificar o Raro
Universidade do Algarve, Portugal
2024/04/11 - 2024/04/11 Hands-on workshop, "Quantification in ImageJ"
Workshop
Carvalhal Lab, ABC-Ri, Portugal
2024/03 - 2024/03 Brain Awareness Week - Cérebro e Neurodiversidade, Compreender a Microcefalia Através de Dados: Potenciais Desafios na Divisão Celular Durante a Formação do Cérebro.
Seminar
Carvalhal Lab, ABC-Ri, Portugal
2024/01/23 - 2024/01/26 Curso de Formação: Cytoflex by Beckman Coulter
Other
Algarve Biomedical Center Research Institute, Portugal
2024/01/16 - 2024/01/16 46th BSCB GenSoc UK Cilia Network e-symposium
Seminar
46th BSCB GenSoc UK Cilia Network e-symposium
2023/12/07 - 2023/12/07 SPG 5º ciclo de seminários online “geneticamente falando com…” (Fernando Regateiro “Ética e o uso de novas tecnologias genómicas em seres humanos”)
Seminar
SPG 5º ciclo de seminários online “geneticamente falando com…”
Sociedade Portuguesa de Genética Humana, Portugal
2023/10/17 - 2023/10/17 Abcam Cell Cycle conference
Seminar
Abcam Cell Cycle conference
Abcam plc, United Kingdom
2023/04/18 - 2023/04/18 ABC-RI International Forum Spring Edition 2023
Seminar
ABC-RI International Forum Spring Edition
Algarve Biomedical Center Research Institute, Portugal
2023/04/11 - 2023/04/11 Cell Size & Growth online seminar (Alex Lessenger and Zuzana Storchová)
Seminar
Cell Size & Growth online seminar
The University of Edinburgh, United Kingdom
2023/03/17 - 2023/03/17 2ª edição das Conversas Doutorais subordinada ao tema “Empreendedorismo, Inovação e Ciência”
Seminar
Conversas Doutorais
Universidade do Algarve - Campus de Gambelas, Portugal
2023/02/10 - 2023/02/10 Mind the Gap em doenças raras, Uma conversa informal para cientistas, médicos e associações de doenças rara com Dra. Maria João Leão e Dra. Célia Azevedo Soares
Round table
Carvalhal Lab, ABC-Ri, Portugal
2022/11/08 - 2022/11/08 ABC-RI International Forum - Fall Edition 2022, Theme: Tackling the burden of RARE DISEASES
Conference
ABC International Forum FALL EDITION 2022
AD-ABC, Portugal
2022/10/19 - 2022/10/21 Training course «Quality assurance, variant interpretation and data management in the NGS diagnostics era» Organised by the University of Tübingen, and the European Joint Programme on Rare Diseases(EJP RD)
Workshop
Eberhard Karls Universität Tübingen, Germany
2022/10 - 2022/10 FICA - Festival Internacional da Ciência Oeiras
Algarve Biomedical Center Research Institute, Portugal
2021/11/02 - 2021/11/02 Inaugural ABC-RI International Forum - Fall Edition 2021
Conference
AD-ABC, Portugal
2021/10/15 - 2021/10/15 Digital Cell Cycle Club
Conference
Cell Cycle Conference featuring Mark O'Connor
Abcam Inc, United States

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2024/04/11 - 2024/04/11 Hands-on workshop, "Quantification in ImageJ" Carvalhal Lab, ABC-Ri, Portugal
Distinctions

Award

2023 Team member of nueRARE, Project wining the João Larguito award
AD-ABC, Portugal