Lessons Learned from Research on Rare Diseases: Ethical and Legal Challenges
A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601).
Deadline for manuscript submissions: closed (3 April 2023) | Viewed by 1696
Special Issue Editors
Interests: research ethics; informed consent; public health ethics; ethics committees; rare diseases
Interests: human genetics; human cytogenetics; ethics in biomedical research
Interests: transplantation; bioethics; human research ethics; public health ethics
Interests: open data; communication science; E-Democracy; E-Governance; strategic communication; E-Participation; citizen participation; governance; case studies
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The International Journal of Environmental Research and Public Health (IF: 3.390) is welcoming submissions for their Special Issue looking at the ethical and legal challenges and opportunities that research on rare diseases faces.
This Special Issue will focus on lessons learned and gaps still open to be addressed, taking into account two main levels: the data-driven research stimulated by open access in the last few years and the clinical research interwoven with aspects that include diagnosis and early treatments of rare diseases (RDs).
There are estimated to be approximately 6000 RDs that affect around 3.5–5.9% of the global population. Taken altogether, RDs represent a public health problem as they are often debilitating and require expensive therapies and long-term care at considerable financial and social costs for patients, their families and the entire healthcare system.
Most RDs are genetic—they are typically hereditary and are more rarely caused by de novo mutations. Study of them is of particular interest for understanding the role of genes in the functioning of common diseases. Due to their rarity, the study of RDs requires widespread collaboration on the part of patients/families and researchers/clinicians, in order to share data and samples to investigate their causes and underlying mechanisms. However, rarity makes RD patients more easily identifiable, with pertinent risks for privacy, discrimination and stigmatization.
Decisions about the use of data and samples in research and decisions about diagnosis and treatment are rarely made by the patients themselves as RDs usually affect children. Difficult choices are thus made by parents, which do not necessarily reflect the wishes of young RD patients. In particular, NGS technologies now offer the possibility to identify genes and variants involved in the RD of interest but with the open risk/possibility of unsolicited results, which complicates the landscape.
The RD research field and related policies have gained much insight from the strong engagement of patients and patient organizations. Their invaluable contribution is constantly helping to shape the field.
The aim of this Special Issue is to collect different insights and ethical views on the ethical, legal and social (ELSI) challenges, opportunities and solutions in the research of RDs from the point of view of all stakeholders: patients and families, clinicians, researchers, and policy makers.
Papers presenting data on the perspectives of different stakeholders are particularly welcome.
Papers invited for this Special Issue may include the following topics:
- Ethical and legal challenges of RD research; data driven limits and opportunities; open access and privacy concerns.
- Ethical and legal aspects of RD diagnosis involving NGS.
- NGS ethical challenges in RD (pre-implantation and prenatal diagnosis, gene editing, and neonatal screening).
- Patient’s involvement in the different aspects of RD research.
Dr. Sabina Gainotti
Dr. Giovanna Floridia
Dr. Carlo M. Petrini
Prof. Dr. Deborah Mascalzoni
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- rare diseases
- RD research
- NGS
- data sharing
- privacy
- incidental findings
- ethical review
- ethics committees
- informed consent
- pediatric consent
