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
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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
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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
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Part of The Lancet Oncology, 2026
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Part of BMC Medical Ethics, 2026
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Cohort Profile: the Cooperative Health Research in South Tyrol study
Part of International Journal of Epidemiology, 2025
- DOI for Cohort Profile: the Cooperative Health Research in South Tyrol study
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Framing exposure to excessive and improper lighting as light-public health
Part of Discover Public Health, 2025
- DOI for Framing exposure to excessive and improper lighting as light-public health
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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
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Human mitochondrial DNA in public metagenomes: Opportunity or privacy threat?
Part of Cell, p. 2561-2566, 2025
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Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants
Part of Frontiers in Medicine, 2024
- DOI for Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants
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Dynamic governance: A new era for consent for stem cell research
Part of Stem Cell Reports, p. 1233-1241, 2024
- DOI for Dynamic governance: A new era for consent for stem cell research
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Artificial Intelligence Needs Data: Challenges Accessing Italian Databases to Train AI
Part of Asian Bioethics Review, p. 423-435, 2024
- DOI for Artificial Intelligence Needs Data: Challenges Accessing Italian Databases to Train AI
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Ethical and social reflections on the proposed European Health Data Space
Part of European Journal of Human Genetics, p. 498-505, 2024
- DOI for Ethical and social reflections on the proposed European Health Data Space
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The WHO genomics program of work for equitable implementation of human genomics for global health
Part of Nature Medicine, p. 2711-2713, 2024
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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
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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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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
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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
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Part of Journal of Medical Internet Research, 2023
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Genetic Testing in Parkinson's Disease
Part of Movement Disorders, p. 1384-1396, 2023
- DOI for Genetic Testing in Parkinson's Disease
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International Genetic Testing and Counseling Practices for Parkinson's Disease.
Part of Movement Disorders, p. 1527-1535, 2023
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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
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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
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Part of Frontiers in Genetics, 2022
- DOI for Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research
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Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem
Part of Frontiers in Psychiatry, 2022
- DOI for Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem
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What ethical approaches are used by scientists when sharing health data?: An interview study
Part of BMC Medical Ethics, 2022
- DOI for What ethical approaches are used by scientists when sharing health data?: An interview study
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Part of Communications Biology, 2022
- DOI for Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
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Clinical relevance and translational impact of reduced penetrance in genetic movement disorders
Part of Medizinische Genetik, p. 151-156, 2022
- DOI for Clinical relevance and translational impact of reduced penetrance in genetic movement disorders
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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
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Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process
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
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Italians locked down: people's responses to early COVID-19 pandemic public health measures
Part of Humanities and Social Sciences Communications, 2022
- DOI for Italians locked down: people's responses to early COVID-19 pandemic public health measures
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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
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Part of Technology in society, p. 101625-101625, 2021
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Law, Genetics and Genomics: An Unfolding Relationship
Part of BioLaw Journal - Rivista di BioDiritto, p. 1-5, 2021
- DOI for Law, Genetics and Genomics: An Unfolding Relationship
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The commercial genetic testing landscape for Parkinson's disease
Part of Parkinsonism & Related Disorders, p. 107-111, 2021
- DOI for The commercial genetic testing landscape for Parkinson's disease
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Part of Epidemiology and Infection, 2021
- DOI for Prevalence and determinants of serum antibodies to SARS-CoV-2 in the general population of the Gardena valley
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Part of International Journal of Medical Informatics, 2021
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Part of Parkinsonism & Related Disorders, p. 101-104, 2021
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Part of Wellcome Open Research, 2021
- DOI for Italian public's views on sharing genetic information and medical information: findings from the ‘Your DNA, Your Say’ study
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Part of Genome Medicine, 2021
- DOI for Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries
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Part of European Journal of Human Genetics, p. 1146-1157, 2021
- DOI for Balancing scientific interests and the rights of participants in designing a recall by genotype study
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Part of Biomolecules, 2021
- DOI for Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study
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Mapping the human genetic architecture of COVID-19
Part of Nature, p. 472-477, 2021
- DOI for Mapping the human genetic architecture of COVID-19
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Part of Journal of Community Genetics, p. 577-592, 2021
- DOI for Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants
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Part of BIOLAW JOURNAL-RIVISTA DI BIODIRITTO, p. 277-287, 2021
- DOI for The dynamic consent of the Cooperative Health Research in South Tyrol (CHRIS) study: broad aim within specific oversight and communication
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Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
Part of Biopreservation and Biobanking, p. 483-492, 2021
- DOI for Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
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Preferences of the Public for Sharing Health Data: Discrete Choice Experiment
Part of JMIR Medical Informatics, 2021
- DOI for Preferences of the Public for Sharing Health Data: Discrete Choice Experiment
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Part of American Journal of Human Genetics, p. 743-752, 2020
- DOI for Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
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The case for open science: rare diseases
Part of JAMIA Open, p. 472-486, 2020
- DOI for The case for open science: rare diseases
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Part of Annals of Internal Medicine, p. 332-334, 2019
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Part of PLOS ONE, 2019
- DOI for Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research
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Part of Journal of Translational Medicine, 2019
- DOI for Microbiota, type 2 diabetes and non-alcoholic fatty liver disease: protocol of an observational study
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Part of European Journal of Human Genetics, p. 1159-1167, 2019
- DOI for The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks
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Part of Journal of Community Genetics, p. 169-176, 2018
- DOI for How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).
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Recommendations for Improving the Quality of Rare Disease Registries
Part of International Journal of Environmental Research and Public Health, 2018
- DOI for Recommendations for Improving the Quality of Rare Disease Registries
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Part of International Journal of Environmental Research and Public Health, 2018
- DOI for Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues
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Part of Journal of Community Genetics, p. 177-190, 2018
- DOI for Legal issues in governing genetic biobanks: the Italian framework as a case study for the implications for citizen's health through public-private initiatives.
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The challenges of the expanded availability of genomic information: an agenda-setting paper.
Part of Journal of Community Genetics, p. 103-116, 2018
- DOI for The challenges of the expanded availability of genomic information: an agenda-setting paper.
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Reverse Discrimination For Psychiatric Genetic Studies In Population-Based Biobanks
Part of European Neuropsychopharmacology, 2017
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The Role of Solidarity(-ies) in Rare Diseases Research
Part of Advances in Experimental Medicine and Biology, p. 589-604, 2017
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Dynamic Consent: a potential solution to some of the challenges of modern biomedical research
Part of BMC Medical Ethics, 2017
- DOI for Dynamic Consent: a potential solution to some of the challenges of modern biomedical research
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Part of European Journal of Human Genetics, p. 1248-1254, 2016
- DOI for Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
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Collaboration to Understand Complex Diseases: Preeclampsia and Adverse Pregnancy Outcomes
Part of Hypertension, p. 681-687, 2016
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Higher cardiogenic potential of iPSCs derived from cardiac versus skin stromal cells
Part of Frontiers in Bioscience, p. 719-43, 2016
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Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?
Part of Biopreservation and Biobanking, p. 241-248, 2016
- DOI for Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?
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Part of European Journal of Human Genetics, p. 1403-1408, 2016
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International Charter of principles for sharing bio-specimens and data
Part of European Journal of Human Genetics, p. 721-728, 2015
- DOI for International Charter of principles for sharing bio-specimens and data
- Download full text (pdf) of International Charter of principles for sharing bio-specimens and data
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Part of Journal of Translational Medicine, 2015
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Ethics, Law and Governance of Biobanking: National, European and International Approaches
Springer, 2015
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Rare disease research: Breaking the privacy barrier
Part of Applied & Translational Genomics, p. 23-29, 2014
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Practical barriers and ethical challenges in genetic data sharing
Part of International Journal of Environmental Research and Public Health, p. 8383-8398, 2014
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Part of Research Ethics, p. 52-54, 2014
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Perspectives on Open Science and scientific data sharing: an interdisciplinary workshop
Part of J ANTHROPOL SCI, p. 179-200, 2014
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Part of Biopreservation and Biobanking, p. 225-233, 2014
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Rare diseases and now rare data?
Part of Nature reviews genetics, p. 372-372, 2013
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Rare diseases and now rare data?
Part of Nature reviews genetics, p. 372, 2013
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From patients to partners: participant-centric initiatives in biomedical research.
Part of Nature reviews genetics, p. 371-6, 2012
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Part of Studies in Ethics, Law, and Technology, p. 1-2, 2012
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Informed consent in the genomics era.
Part of PLoS Medicine, 2008
Teaching
- Biomedical ethics
- Bioethics
- Environmental ethics
PhD-supervision
Katharina Tschigg