Deborah Mascalzoni

Research about ethics and policy for advanced research approaches in genetics and biomaterials with the integration of participant-centric approaches.

Deborah Mascalzoni is an Associate Professor in Biomedical Ethics at Uppsala University and leads the ELSI Research Group at the IfB (Eurac Research, Italy). Her main research interests are the broader human rights implications of genetics and new technologies, with a focus on rare diseases and vulnerable communities.

Deborah Mascalzoni is interested in ethics and policy for advanced research approaches in genetics and biomaterials with the integration of participants centric approaches. She has been appointed by WHO for the Technical Advisory Group on Genomics. She is fellow of the Helex Center in Oxford and past fellow at the Kennedy School of Government, Harvard.

Publications

Two-faced Janus? Consent to participate in research and consent to data processing in the EHDS era: a comparative analysis of requirements and standards in eight European countries

Marelli, Luca; Colussi, Ilaria; Schlünder, Irene; Bahr, Anne et al.

Part of JOURNAL OF LAW AND THE BIOSCIENCES, 2026
- DOI for Two-faced Janus? Consent to participate in research and consent to data processing in the EHDS era: a comparative analysis of requirements and standards in eight European countries
- Download full text (pdf) of Two-faced Janus? Consent to participate in research and consent to data processing in the EHDS era: a comparative analysis of requirements and standards in eight European countries
Mass-Scale G2B Data Sharing in an Emergency: between the GDPR, Data Governance Act, and European Health Data Space

Parziale, Andrea; Pulice, Elisabetta; Mascalzoni, Deborah

Part of European Journal of Health Law, p. 314-345, 2026
- DOI for Mass-Scale G2B Data Sharing in an Emergency: between the GDPR, Data Governance Act, and European Health Data Space
- Download full text (pdf) of Mass-Scale G2B Data Sharing in an Emergency: between the GDPR, Data Governance Act, and European Health Data Space
Cohort Profile: the Cooperative Health Research in South Tyrol study

Lundin, Rebecca; Melotti, Roberto; Barin, Laura; Goegele, Martin et al.

Part of International Journal of Epidemiology, 2025
- DOI for Cohort Profile: the Cooperative Health Research in South Tyrol study
- Download full text (pdf) of Cohort Profile: the Cooperative Health Research in South Tyrol study
Framing exposure to excessive and improper lighting as light-public health

Ancillotti, Mirko; Conticelli, Elisa; Tondelli, Simona; Mascalzoni, Deborah

Part of Discover Public Health, 2025
- DOI for Framing exposure to excessive and improper lighting as light-public health
- Download full text (pdf) of Framing exposure to excessive and improper lighting as light-public health
Exploring doctors’ perspectives on precision medicine and AI in colorectal cancer: opportunities and challenges for the doctor-patient relationship

Ancillotti, Mirko; Grauman, Åsa; Veldwijk, Jorien; Flobak, Åsmund et al.

Part of BMC Medical Informatics and Decision Making, 2025
- DOI for Exploring doctors’ perspectives on precision medicine and AI in colorectal cancer: opportunities and challenges for the doctor-patient relationship
- Download full text (pdf) of Exploring doctors’ perspectives on precision medicine and AI in colorectal cancer: opportunities and challenges for the doctor-patient relationship
Human mitochondrial DNA in public metagenomes: Opportunity or privacy threat?

Sarhan, Mohamed S.; Antonello, Giacomo; Weissensteiner, Hansi; Mengoni, Claudia et al.

Part of Cell, p. 2561-2566, 2025
- DOI for Human mitochondrial DNA in public metagenomes: Opportunity or privacy threat?
Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants

Staunton, Ciara; Blom, Johanna M. C.; Mascalzoni, Deborah

Part of Frontiers in Medicine, 2024
- DOI for Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants
- Download full text (pdf) of Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants
Dynamic governance: A new era for consent for stem cell research

Isasi, Rosario; Bentzen, Heidi B.; Fabbri, Morris; Fuhr, Antonie et al.

Part of Stem Cell Reports, p. 1233-1241, 2024
- DOI for Dynamic governance: A new era for consent for stem cell research
- Download full text (pdf) of Dynamic governance: A new era for consent for stem cell research
Artificial Intelligence Needs Data: Challenges Accessing Italian Databases to Train AI

Staunton, Ciara; Biasiotto, Roberta; Tschigg, Katharina; Mascalzoni, Deborah

Part of Asian Bioethics Review, p. 423-435, 2024
- DOI for Artificial Intelligence Needs Data: Challenges Accessing Italian Databases to Train AI
- Download full text (pdf) of Artificial Intelligence Needs Data: Challenges Accessing Italian Databases to Train AI
Ethical and social reflections on the proposed European Health Data Space

Staunton, Ciara; Shabani, Mahsa; Mascalzoni, Deborah; Mezinska, Signe et al.

Part of European Journal of Human Genetics, p. 498-505, 2024
- DOI for Ethical and social reflections on the proposed European Health Data Space
- Download full text (pdf) of Ethical and social reflections on the proposed European Health Data Space
The WHO genomics program of work for equitable implementation of human genomics for global health

Ambrosino, Elena; Abou Tayoun, Ahmad N.; Abramowicz, Marc; Zilfalil, Bin Alwi et al.

Part of Nature Medicine, p. 2711-2713, 2024
- DOI for The WHO genomics program of work for equitable implementation of human genomics for global health
How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study

Tschigg, Katharina; Consoli, Luca; Brüggemann, Norbert; Hicks, Andrew A. et al.

Part of Journal of Community Genetics, p. 615-630, 2024
- DOI for How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study
- Download full text (pdf) of How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study
Editorial: Digital biomarkers in testing the safety and efficacy of new drugs in mental health: A collaborative effort of patients, clinicians, researchers, and regulators

Blom, Johanna Maria Catharina; Benatti, Cristina; Mascalzoni, Deborah; Tascedda, Fabio et al.

Part of Frontiers in Psychiatry, 2023
- DOI for Editorial: Digital biomarkers in testing the safety and efficacy of new drugs in mental health: A collaborative effort of patients, clinicians, researchers, and regulators
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Precision cancer medicine and the doctor-patient relationship: a systematic review and narrative synthesis

Grauman, Åsa; Ancillotti, Mirko; Veldwijk, Jorien; Mascalzoni, Deborah

Part of BMC Medical Informatics and Decision Making, 2023
- DOI for Precision cancer medicine and the doctor-patient relationship: a systematic review and narrative synthesis
- Download full text (pdf) of Precision cancer medicine and the doctor-patient relationship: a systematic review and narrative synthesis
Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study

Biasiotto, Roberta; Kösters, Maria; Tschigg, Katharina; Pramstaller, Peter P et al.

Part of European Journal of Human Genetics, p. 1218-1227, 2023
- DOI for Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study
- Download full text (pdf) of Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study
Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries.

Biasiotto, Roberta; Viberg Johansson, Jennifer; Alemu, Melaku Birhanu; Romano, Virginia et al.

Part of Journal of Medical Internet Research, 2023
- DOI for Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries.
Genetic Testing in Parkinson's Disease

Pal, Gian; Cook, Lola; Schulze, Jeanine; Verbrugge, Jennifer et al.

Part of Movement Disorders, p. 1384-1396, 2023
- DOI for Genetic Testing in Parkinson's Disease
- Download full text (pdf) of Genetic Testing in Parkinson's Disease
International Genetic Testing and Counseling Practices for Parkinson's Disease.

Saunders-Pullman, Rachel; Raymond, Deborah; Ortega, Roberto A; Shalash, Ali et al.

Part of Movement Disorders, p. 1527-1535, 2023
- DOI for International Genetic Testing and Counseling Practices for Parkinson's Disease.
Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol

Pattaro, Cristian; Barbieri, Giulia; Foco, Luisa; Weichenberger, Christian X. et al.

Part of Pathogens and Global Health, p. 128-136, 2022
- DOI for Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol
- Download full text (pdf) of Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol
Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries

Milne, Richard; Morley, Katherine I.; Almarri, Mohamed A.; Atutornu, Jerome et al.

Part of Genetics in Medicine, p. 1120-1129, 2022
- DOI for Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries
- Download full text 1 (pdf) of Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries
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Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research

Staunton, Ciara; Slokenberga, Santa; Parziale, Andrea; Mascalzoni, Deborah

Part of Frontiers in Genetics, 2022
- DOI for Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research
- Download full text (pdf) of Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research
Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem

Parziale, Andrea; Mascalzoni, Deborah

Part of Frontiers in Psychiatry, 2022
- DOI for Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem
- Download full text (pdf) of Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem
What ethical approaches are used by scientists when sharing health data?: An interview study

Viberg, Jennifer; Bentzen, Heidi Beate; Mascalzoni, Deborah

Part of BMC Medical Ethics, 2022
- DOI for What ethical approaches are used by scientists when sharing health data?: An interview study
- Download full text (pdf) of What ethical approaches are used by scientists when sharing health data?: An interview study
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

Winkler, Thomas W.; Rasheed, Humaira; Teumer, Alexander; Gorski, Mathias et al.

Part of Communications Biology, 2022
- DOI for Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
- Download full text (pdf) of Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
Clinical relevance and translational impact of reduced penetrance in genetic movement disorders

Heinzel, Sebastian; Mascalzoni, Deborah; Bäumer, Tobias; Berg, Daniela et al.

Part of Medizinische Genetik, p. 151-156, 2022
- DOI for Clinical relevance and translational impact of reduced penetrance in genetic movement disorders
- Download full text (pdf) of Clinical relevance and translational impact of reduced penetrance in genetic movement disorders

Areas of expertise

Projects

Projects outside Uppsala University

Teaching

Biomedical ethics
Bioethics
Environmental ethics

PhD-supervision

Katharina Tschigg