Deborah Mascalzoni
Deborah Mascalzoni
PhD Philosophy
Senior Researcher
Deborah Mascalzoni joined CRB in April 2013. She holds a PhD in Bioethics from the Faculty of Law at Bologna University and has worked extensively on ELSI issues related to biobank and registry research, especially the population based CHRIS project at the Center of Biomedicine, European Academy (EURAC).
Deborah Mascalzoni has been teaching ethics at the 'Claudiana' University of Roma in Bolzano. She is a member of the Ethical board of South Tyrol and the local health system ethical board of Bolzano as well as the Telethon Advisory Board. She is involved in the WIKI platform of BBMRI.IT, a member of the BRIF project and a member of the ethical group of the International Genetic Epidemiological Society (IGES). Her main research interests are genetics and new technologies, informed consent, patient communication, privacy & data sharing and the role of stakeholders in medicine.
Currently, Deborah Mascalzoni is working on rare diseases in RD-Connect and rheumatoid arthritis within Euro-TEAM and Be the Cure. She is also involved in BBMRI.se.
E-mail: deborah.mascalzoni@crb.uu.se
Phone: +46 18 471 62 32
Recently in the media
- Selling Our Genes: Government inaction allowing private sector to take control of our DNA, The Journal.ie, 2020-10-04
- International Rare Diseases Research Consortium (IRDiRC) - The principles for sharing: BBMRI-ERIC Newsflash 2015-08-27
Rare disease research
RD-Connect is a 7th framework project that aims to build an integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research. We address the ethical, legal and social issues (ELSI).
Health data in cyber space
We are part of a Nordforsk funded project that develops recommendations for resilient governance mechanisms for cyberhealth.
ELSI-Service for BBMRI.se
We have run ELSI-Services for BBMRI.se (BioBanking and Molecular Resource Infrastructure of Sweden): a national effort for efficient and automated collection of biological material funded by the Swedish Research Council. Now replaced by Biobank Sweden.
Arthritis: Early treatment
The development of new therapeutic agents against Rheumatoid arthritis (RA) and RA-like diseases requires a dynamic interaction between studies in humans and in animal models of disease.
Citizen health in genomics
We are part of CHIP ME, a community of researchers and stakeholders to promote public-private initiatives in public health genomics.
Biobanks and registries in research
We aim for a biobank and registry management that satisfies ethical and legal demands from the research community, the public and the individual.
Arthritis risk communication
Euro-TEAM is a 7th framework programme aiming towards early diagnosis and biomarker validation in arthritis management. We are working with risk communication.
Recent publications
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Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
Part of American Journal of Human Genetics, p. 743-752, 2020.
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The case for open science: rare diseases
Part of JAMIA Open, p. 472-486, 2020.
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Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research
Part of PLoS ONE, 2019.
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Microbiota, type 2 diabetes and non-alcoholic fatty liver disease: protocol of an observational study
Part of Journal of Translational Medicine, 2019.
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The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks
Part of European Journal of Human Genetics, p. 1159-1167, 2019.
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How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).
Part of Journal of Community Genetics, p. 169-176, 2018.
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Legal issues in governing genetic biobanks: the Italian framework as a case study for the implications for citizen's health through public-private initiatives.
Part of Journal of Community Genetics, p. 177-190, 2018.
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Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues
Part of International Journal of Environmental Research and Public Health, 2018.
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Recommendations for Improving the Quality of Rare Disease Registries
Part of International Journal of Environmental Research and Public Health, 2018.
Biobank and registry ethics & law
For many years, researchers at CRB have provided constructive advise on how to deal with ethical and legal aspects of research using human tissue material and personal data. We have collaborated with biomedical scientists and published our findings in peer reviewed journals. As a summary of this research we have compiled a list of publications with abstracts. We have grouped them thematically to help you find the ones you might be interested in reading. Our publications deal with ethical frameworks and policy, regulatory aspects of biobank and registry research, informed consent, ethical review, integrity concerns, trust, genetic testing, indicental findings, commercialization, public and patient perceptions, rare diseases, children & biobanks & genetics, and biobank studies.
