Rare Disease Patient and Ethics Council

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 with an interest the work, can ask us a question.

Click here to submit a question

How it works

The RD-PEC responds to any question about ethics, social issues and patient participation related to the work of the three projects mentioned.  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.  Click on ‘Ask A Question’ above.  Your identity and personal details will remain confidential.

Mission Statement

The RD-PEC is a voluntary, multidisciplinary group comprised of patients, parents, representatives of patients’ organisations, clinicians, legal academics, sociologists, scientists and ethicists. The RD-PEC works in a collegiate, collaborative and inclusive manner to provide ethical, social and participatory guidance and balanced opinion, in order to enhance the excellence that  RD-Connect, NeurOmics and EURenOmics aspire to.

Membership

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. Members are listed below.

Context

  • 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

Download a copy of the RD-PEC Terms of Reference here.

RD-PEC members

Jean-Jacques Cassiman

KU Leuven

Jean-Jacques Cassiman is emeritus Human Genetics Professor KU Leuven.

Megan Fookes

Rare Voices Australia

Megan Fookes, OAM, is a co-founder of the National Organisation for Rare Diseases in Australia called Rare Voices Australia.

Emma Heslop

Newcastle University

Emma is Project Manager of RD-Connect and is responsible for leading the strategic development and delivery of the project to ensure the deliverables and objectives are achieved. Emma’s background is in biological anthropology and 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 Irwin is a biochemist-pharmacologist with molecular biology and cell biology experience. He has worked for many years in hospital-based research and for the pharmaceutical industry and is presently an independent consultant on regulatory matters. He supports the Paediatric Task Force for the European Organisation for Rare Disorders (EURORDIS) and has continued to support organizations working in rare neuromuscular diseases.

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 largest academic medical / molecular genetics institution in the Czech Republic, which also comprises a research / diagnostics reproductive genetics centre. His institute is a “clearing centre” for dissemination of knowledge in genetics gathered within various international European projects.

Deborah Mascalzoni

Uppsala University

Deborah’s main research interests are genetics and new technologies, informed consent, patient communication, privacy & data sharing and the role of stakeholders in medicine. She works mainly with the 7th Framework programme 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.

Marita Pohlschmidt

Muscular Dystrophy Campaign

Marita is the Director of Research at the Muscular Dystrophy Campaign. She in charge of an annual £1.2m budget invested to increase understanding of muscle function and muscle disease and to ensure an efficient bench-to-bedside transition of promising technology.

Daniel Renault

FEDERG Initiative

Daniel Renault is Chair of the Federation of European Associations of patients affected by Renal Genetic Diseases (FEDERG), Board Member of AIRG-France since 2010, and father of a daughter affected by Alport Syndrome.

Inge Schwersenz

Deutsche Gesellschaft fuer Muskelkranke (DGM), Initiative SMA

Inge Schwersenz has a son with Spinal Muscular Atrophy and 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

Volker has a longstanding interest in the pathogenesis of muscular dystrophies and within the neuromuscular research group at Newcastle is engaged in research using zebrafish and mouse models. He has a special interest in the use of MRI in muscular dystrophies and the insight that contrast-enhanced MRI and quantitative MRI can give into 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

In January 2006, Marieke van Meel started the development of a multinational alliance for Nephrotic Syndrome which in January 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 (PEALS www.ncl.ac.uk ) at Newcastle University. He is vice-chair of an NHS research ethics committee and is a member of the National Research Ethics Service National Ethics Advisors’ Panel.