Rare Disease Patient and Ethics Council (RD-PEC)

The Rare Disease Patient and Ethics Council (RD-PEC) examines ethical, social and participatory questions linked to research taking place in the context of RD-Connect, NeurOmics  and EURenOmics.  Anyone working on these projects, or interested in their work, can ask us a question.

How it works

The RD-PEC responds to any question about ethics, social issues and patient participation related to the work of RD-Connect, NeurOmics  and EURenOmics.  Anyone with an interest in the work can pose a question to the RD-PEC.  The question and our answer will be made publicly available.  Your identity and personal details will remain confidential.

Click here to ask a question

Mission Statement

RD-PEC is a voluntary, multidisciplinary group comprised of patients, parents, representatives of patients’ organisations, clinicians, legal academics, sociologists, scientists and ethicists. Their work has a collegiate, collaborative and inclusive character. The group provides balanced opinion as well as ethical, social and participatory guidance to enhance the excellence that  RD-Connect, NeurOmics and EURenOmics aspire to.


  • EURenOmics aims to develop novel tools that will allow to make more accurate diagnoses, predict the disease course and the efficacy of available treatments for rare kidney diseases.
  • NeurOmics aims to revolutionize diagnostics and develop new treatments for major neuromuscular and neurodegenerative diseases.
  • RD-Connect will create an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.

RD-PEC Terms of Reference



Membership of the RD-PEC is voluntary and includes members of the Ethics Boards and Patient Councils of RD-Connect, Neuromics and EURenOmics, as well as some co-opted members.


Jean-Jacques Cassiman

KU Leuven

Jean-Jacques Cassiman is emeritus Human Genetics Professor KU Leuven. Before, he held posts in numerous organisations, such as the European Society of Human Genetics and the European Platform for Patients’ Organisations, Science and Industry (Epposi).

Emma Heslop

Newcastle University

Emma is the Project Manager of RD-Connect and is responsible for leading the strategic development of the project to ensure the deliverables and objectives are achieved. She is also a member of the Rare Disease Patient and Ethics Council (RD-PEC). Emma’s background is in biological anthropology. She has been part of the Newcastle team since 2007 when she joined TREAT-NMD as assistant project manager.

Joseph Irwin

Lakeside Regulatory Consulting Services Ltd.

Joseph is a biochemist-pharmacologist and worked for many years in hospital-based research and for the pharmaceutical industry. Presently, he is an independent consultant on regulatory matters. He supports the Paediatric Task Force for the European Organisation for Rare Disorders (EURORDIS) and focuses on rare neuromuscular diseases. Within RD-Connect, he is a member of the Scientific Advisory Board (SAB), Rare Disease Patient and Ethics Council (RD-PEC) and Patient Advisory Council (PAC).

Chantal Loirat

Hôpital Robert Debré

Chantal Loirat is a consultant in Pediatric Nephrology at the Hôpital Robert Debré Paris, France.

Milan Macek

Charles University

Professor Milan Macek Jr. MD, DSc is the chairman of the Department of Biolog and Medical Genetics at the Charles University in Prague – the largest academic medical and molecular genetics institution in the Czech Republic. As a participant of numerous European projects, he contributes to dissemination of knowledge in genetics in Central and Eastern Europe. Within RD-Connect, he is a member of the Rare Disease Patient and Ethics Council (RD-PEC).

Deborah Mascalzoni

Uppsala University

Deborah Mascalzoni is a senior researcher at the Centre for Research Ethics & Bioethics at the Uppsala University, where she focuses on work with RD-Connect. Her research interests include genetics and new technologies, informed consent, patient communication, privacy & data sharing and the role of stakeholders in medicine. She is a member of the Rare Disease Patient and Ethics Council (RD-PEC) in RD-Connect.

Pauline McCormack

Newcastle University

Pauline is a medical sociologist with a background in education, social policy and participatory methods. Her research encompasses disability, patient participation and bioethics, in particular notions of power, the patient voice, perceptions of quality of life and how policy serves individuals.

Caron Molster

Office of Population Health Genomics (OPHG)

Caron Molster manages stakeholder and community engagement in the development of rare disease related policies and services for the Department of Health Western Australia.

Daniel Renault

FEDERG Initiative

Daniel Renault is the Chair of the Federation of European Associations of patients affected by Renal Genetic Diseases (FEDERG) and a Board Member of Association for Information and Research on Genetic Renal Diseases (AIRG-France) since 2010. His daughter is affected by Alport Syndrome.

Inge Schwersenz

Deutsche Gesellschaft fuer Muskelkranke (DGM), Initiative SMA

Inge Schwersenz’s son has Spinal Muscular Atrophy. She wants to make sure that patients in clinical trials are not exposed to any harm, while making sure that there are no unreasonable delays in promising clinical trials.

Chris Sotirelis

UK Thalassaemia Society

Chris is a patient with beta thalassaemia major representing the UK Thalassaemia Society and has been a tireless patient advocate for EURORDIS and the Rare Disease community at national and international level for many years.

Volker Straub

Newcastle University

Prof. Volker Straub is a neurologist specialised in neuromuscular genetics of muscular dystrophies. Within the neuromuscular research group in Newcastle, he is engaged in studies using zebrafish and mouse models. He has a special interest in the use of MRI in muscular dystrophies to reveal the dynamic processes underlying muscle fibre de- and regeneration.

Cathy Turner

Cathy Turner

Cathy is the Communication and Dissemination officer for the NeurOmics project. She is a member of the Rare Disease Patient and Ethics Council (RD-PEC).

Marieke van Meel

NephcEurope Foundation

Marieke is a mother of a child with the nephrotic syndrome and the initiator of a multinational alliance for Nephrotic Syndrome which in 2010 lead to the founding of NephcEurope Foundation.

Simon Woods

Newcastle University

Simon Woods is Senior Lecturer and Co-Director of the Policy Ethics and Life sciences Research Institute at Newcastle University. He is vice-chair of an research ethics committee at the British National Health Service (NHS) and is a member of the National Research Ethics Service National Ethics Advisors’ Panel.