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

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
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
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto et al.

Part of Human Mutation, p. 717-733, 2022
- DOI for The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
- Download full text (pdf) of The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review

Tschigg, Katharina; Consoli, Luca; Biasiotto, Roberta; Mascalzoni, Deborah

Part of European Journal of Human Genetics, p. 1000-1010, 2022
- DOI for Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review
- Download full text (pdf) of Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process

Mascalzoni, Deborah; Melotti, Roberto; Pattaro, Cristian; Pramstaller, Peter Paul et al.

Part of European Journal of Human Genetics, p. 1391-1397, 2022
- DOI for Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process
- Download full text (pdf) of Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process
Italians locked down: people's responses to early COVID-19 pandemic public health measures

Romano, Virginia; Ancillotti, Mirko; Mascalzoni, Deborah; Biasiotto, Roberta

Part of Humanities and Social Sciences Communications, 2022
- DOI for Italians locked down: people's responses to early COVID-19 pandemic public health measures
- Download full text (pdf) of Italians locked down: people's responses to early COVID-19 pandemic public health measures
Governance mechanisms for sharing of health data: An approach towards selecting attributes for complex discrete choice experiment studies

Viberg, Jennifer; Shah, Nisha; Haraldsdóttir, Eik; Bentzen, Heidi Beate et al.

Part of Technology in society, p. 101625-101625, 2021
- DOI for Governance mechanisms for sharing of health data: An approach towards selecting attributes for complex discrete choice experiment studies
Law, Genetics and Genomics: An Unfolding Relationship

Tomasi, Marta; Penasa, Simone; Cozzi, Alessia-Ottavia; Mascalzoni, Deborah

Part of BioLaw Journal - Rivista di BioDiritto, p. 1-5, 2021
- DOI for Law, Genetics and Genomics: An Unfolding Relationship
- Download full text (pdf) of Law, Genetics and Genomics: An Unfolding Relationship
The commercial genetic testing landscape for Parkinson's disease

Cook, Lola; Schulze, Jeanine; Verbrugge, Jennifer; Beck, James C. et al.

Part of Parkinsonism & Related Disorders, p. 107-111, 2021
- DOI for The commercial genetic testing landscape for Parkinson's disease
- Download full text (pdf) of The commercial genetic testing landscape for Parkinson's disease

Areas of expertise

Projects

Projects outside Uppsala University

Teaching

Biomedical ethics
Bioethics
Environmental ethics

PhD-supervision

Katharina Tschigg