Rare Disease Research Conference: Speaker Bios
Table of Contents
Mr Daniel Mikula
Mr Daniel Mikula is Project Manager for the Rare Disease Research Catalyst (RDCat) consortium, a project funded by the Health Research Board (HRB) with the overarching goal to boost research activities in rare diseases and participation in European partnership programmes. Responsibilities include governance activities, stakeholder engagement and operational support. Prior to joining the RDCat team, he has worked as a research nurse on rare disease clinical trials and disease registries at the St. Vincent`s University Hospital, Clinical Research Centre. Additionally, he has more than 10 years of healthcare experience as a registered nurse. He has completed an MSc degree in Clinical and Translational Research at University College Dublin, School of Medicine and acquired a Level 9 Professional Diploma in Regulatory Affairs in (Bio)Pharmaceuticals at University of Limerick, Faculty of Science and Engineering.
Professor Natasha Appelman Dijkstra
Professor Natasha Appelman Dijkstra is a full professor of Medicine at the Leiden University Medical Center where she leads the Bone Center of the LUMC, a (inter)national Reference Center for Bone and Mineral disorders, participating in both ERN BOND and ENDO-ERN. Her research focus is centralized around the care for patients with (rare) bone and mineral conditions, with a special focus on registries, Fibrous Dysplasia/McCune Albright syndrome and mineral disorders. Natasha is currently coordinating the European Registries for Rare Endocrine and Bone conditions and conducting a denosumab-placebo controlled randomized trial in FD/MAS. In the past years Natasha has hosted multiple clinical ERN fellowships in rare metabolic bone conditions for endocrinologists and rheumatologists (in training).
Dr Sinead Hickey
Dr Sinead Hickey is the Head of Research at Debra Ireland, a charity representing families living with the rare skin condition epidermolysis bullosa (EB). She leads research initiatives to address the challenges faced by those living with EB in Ireland and beyond. A key part of her work included commissioning the Irish EB Registry in collaboration with National and International Skin Solutions (NISR) and advocating for a global EB registry through DEBRA International. She serves as Secretary on the Board of Health Research Charities Ireland (HRCI) and represents patient interests at a European level as an ePAG member for the European Reference Network for Rare Skin Diseases (ERN Skin).
Ms Lara Cutlar
Ms Lara Cutlar currently serves as the Registry Coordinator for NISR Solutions CLG. In her role, she oversees the development and ethical approval processes for dermatology-specific international patient registries. NISR Solutions CLG is a not-for-profit organization supported by the Dublin Skin and Cancer Hospital Charity. The organization’s mission is to maintain and oversee skin disease registries both in Ireland and internationally. Since its inception in 2015, NISR has successfully launched five registries, engaged over 2,400 consenting participants, and collaborated with eight clinical centres to collect data, leading to the publication of eleven research papers. In 2015, Lara obtained her PhD from the Charles Institute of Dermatology at University College Dublin. Her background in health research includes pre-clinical project management at Amryt Pharmaceuticals, data management at Quintiles Ltd, and research grant management at the Health Research Board of Ireland.
Professor Sinéad Murphy
Professor Sinéad Murphy is a Consultant Neurologist at Tallaght University Hospital (TUH) and Clinical Associate Professor in Trinity College Dublin. Since March 2024 she has been Clinical Lead of the HSE National Clinical Programme for Neurology. She has particular subspecialty interest and expertise in inherited neuropathies and ataxias, runs Neuropathy and Neuromuscular clinics and co-leads the National Ataxia Clinic in TUH. She is lead of the Irish site for the European Reference Network in Rare Neurological Diseases (ERN-RND) and chaired the Neurology sub-group of the HSE Amyloidosis Working Group which developed the Amyloidosis Model of Care.
Ms Elisabeth Humbert-Dorfmüller
Ms Elisabeth Humbert-Dorfmüller is a project manager of ERN-LUNG. She previously worked in the consulting and banking industry, in France, Great Britain and Germany.
Professor Elisabeth Bendstrup
Professor Elisabeth Bendstrup is professor at the Department of Respiratory Diseases and Allergy at Aarhus University Hospital. She is responsible for the Center of Interstitial Lung Diseases, a third referral centre for interstitial lung diseases. She also takes leading part in the Danish Center of Sarcoidosis. Besides interstitial lung diseases and sarcoidosis, the center also does lung transplantation evaluation and post-transplant follow-up. Dr. Bendstrup became a specialist in internal medicine in 2004 and in respiratory medicine in 2006. Dr Bendstrup’s main research interest is idiopathic pulmonary fibrosis, connective-tissue disease related interstitial lung diseases, and other interstitial or rare lung diseases with specific focus on epidemiology, palliation, rehabilitation and comorbidities. She takes active part in international conferences and is member of several ILD meeting steering committees.
Professor Stuart H Ralston
Professor Stuart H Ralston holds the Chair of Rheumatology at the University of Edinburgh and is director of the MSc in clinical trials. He is an honorary consultant rheumatologist in NHS Lothian, is clinical lead for the osteoporosis service and clinical director of the rheumatology service. Professor Ralston has researched widely on the molecular and genetic basis of Paget’s disease, osteoporosis and other bone and joint diseases. He has a special interest in the pathogenesis and management of Paget’s disease of bone and has led several clinical trials in Paget’s disease. He is chief investigator of the TOPAZ study which seeks to determine if the combination of teriparatide and zoledronic acid can reduce the risk of fractures in adults with osteogenesis imperfecta as compared with standard care. He is editor chief of Calcified Tissue International, editor of Davidson’s Principles and Practice of Medicine and Chairman of the Board of Trustees of the Paget’s Association.
Ms Emer Cooke
Ms Emer Cooke has been the Executive Director of the European Medicines Agency, based in Amsterdam, since November 2020. She also holds the role of Chair of the International Coalition of Medicines Regulatory Authorities (ICMRA). Between November 2016 and November 2020, she was the Director responsible for all medical product related regulatory activities at the World Health Organization in Geneva. Ms. Cooke is a pharmacist with Master’s degrees in Science and Business Administration from Trinity College Dublin. She has over 30 years’ experience in international regulatory affairs and held management positions at the EMA as Head of Inspections and Head of International Affairs respectively from 2002 until 2016. She has also worked in the Pharmaceuticals unit of the European Commission, where intra-alia, she was responsible for international collaboration, EU enlargement and the orphan medicines regulation for the European Pharmaceutical Industry Association (EFPIA) and in various industry and regulatory positions in Ireland. In 2021 she received the Muckross (her alma mater) Woman of the Year award. In 2022 she received European Movement Ireland’s “European of the Year” award. In 2023 she was awarded an honorary doctorate by the Royal College of Surgeons Ireland (RCSI) University of Medicines and Health Sciences.
Ms Mary Vasseghi
Ms Mary Vasseghi (nee Desmond) is a patient advocate of 20 years, triggered by the sudden death of her 18 year old son Darius to SADS ( Sudden Arrhythmogenic Death Syndrome). Recently retired, she is completing her PhD on Tuberous Sclerosis Complex (TSC) in Trinity College Dublin, under the supervision of Prof Colin P. Doherty and support of FutureNeuro. Mary’s adult daughter has a diagnosis of TSC, and this experience spurred her to undertake research to inform development of an internationally recognised standard of care for patients with TSC in Ireland. Mary previously worked in healthcare, initially in the cardiac field then in patient safety and advocacy. She has been the patient voice on national and international committees including by ministerial appointment and as a member of the advisory team on the WHO patients for patient safety programme. Currently she provides patient and family representation in entities including ITHACA ERN, the World Patient Alliance, Emeis, the TAND consortium, the Irish Heart Foundation Sudden Cardiac Death Council, TSCIreland and the Irish Rare Disease Clinical Trial Network.
Mr Killian MacDonald
Mr Killian MacDonald is the Director of Gilead Science Commercial Operations in Ireland. Gilead has a number of Global operations in Ireland including Manufacturing, Shared Services, Distribution and R&D. Gilead’s global Paediatric Centre of Excellence, focused on investigating the use of its medicines as potential treatments for children living with serious diseases, is based at North Docks in Dublin. Killian has over 20 years of experience in the pharmaceutical industry in Ireland and abroad. He holds a degree in Business and Law from UCD and a Master’s of Science degree in Business from UCD’s Smurfit Business School. He is a member of the Board of the Irish Pharmaceutical Healthcare Association (IPHA) and is vice-chair of the IPHA’s Clinical Research Exchange Group (CREG).
Dr Declan O’Rourke
Dr Declan O’Rourke is a Paediatric Neurologist and Neuromuscular Specialist at Children’s Health Ireland at Temple Street. He leads the Paediatric Neuromuscular service across Ireland and the treatment centre for children with Spinal Muscular Atrophy at CHI. He is Principal Investigator in a number of neuromuscular clinical trials and registries in the areas of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. He is Associate Director of Research at Children’s Health Ireland and Associate Clinical Professor at UCD.
Professor Marc Humbert
Professor Marc Humbert, MD, PhD, is Dean of the Faculty of Medicine of the University Paris-Saclay. He is Professor of Respiratory Medicine, Director of the Respiratory and Intensive Care Medicine Department, French Pulmonary Hypertension Reference Centre, Assistance Publique Hôpitaux de Paris. Marc is Past President of the European Respiratory Society (ERS), Chief Editor of the European Respiratory Journal (2013-2017) and Section Editor in charge of Pulmonary Vascular Medicine. Since 2017, Marc Humbert has been the vice-coordinator of the European Reference Network for rare and low prevalence respiratory diseases (ERN-LUNG). Clarivate Analytics has listed Marc as one of the world’s highly cited researchers in the field of Clinical Medicine.
Professor Valerie Smith
Professor Valerie Smith is a Professor of Midwifery at the School of Nursing, Midwifery and Health Systems in UCD, where she leads programmes of research in maternity care, evidence syntheses and trials methodology. Valerie is a member of the Executive Board of Evidence Synthesis Ireland, the Executive Committee of the Health Research Board Trials Methodology Research Network, a member of the UK Trials Methodology Research Partnership (Outcomes Working Group) and is a member of the Trials Oversight Group at the UCD Clinical Research Centre. Valerie has been involved in Trials Methodology and Study Within a Trial Projects since 2012 and led the first SWAT in the now established SWAT series, which investigated the effects of a site visit on recruitment rates in a multi-centre trial.
Dr Leanne Hays
Dr Leanne Hays is an early-career researcher, Patient and Public Involvement and Engagement (PPIE) lead and the PRIME Ireland Pandemic Programme manager at the Irish Critical-Care Clinical Trials Network, University College Dublin. She leads PPIE programmes for the REMAP-CAP and PANTHER platform trials, coordinating national and international PPI groups. She is a member of the REMAP-CAP International Trial Steering Committee, biological samples (harmonizing with other trials), EU management committee and health economics working group. She leads equality, diversity and inclusion for PANTHER and is a biological samples and ECR member. She also supports the management of the PRACTICAL platform in Ireland. She manages the HRB-funded PRIME-Ireland programme focused on pandemic preparedness including clinical studies, trials methodology and PPIE.
Ms Sarah Forde
Ms Sarah Forde is the RDCTN Research Data and Regulatory Affairs Officer. Sarah is responsible for establishing and managing databases that capture the dynamic activity of the RDCTN. Drawing on her background in bioinformatic research in rare diseases and as a candidate for a PhD in Medicine, Sarah contributes a distinctive set of scientific skills to the RDCTN. With dedication to accuracy and compliance, Sarah focuses on analysing and publishing reports on data from the RDCTN and associated operations that facilitate thoughtful decision-making. Sarah is dedicated to incorporating patient voices into all aspects of RDCTN data management to ensure this reflects the needs and experiences of those affected by rare disease.
Professor Jeffrey Krischer
Professor Jeffrey Krischer is Distinguished University Health Professor, Associate Chair of the Department of Internal Medicine, Morsani College of Medicine and Director of the Health Informatics Institute of the University of South Florida. He leads 200 clinical and research faculty and staff exploring the pathogenesis and prevention strategies for type 1 (autoimmune) diabetes and more than 200 rare diseases. Dr. Krischer received his Ph. D. from Harvard University and an MD (honoris causa) from Lund University. His current research focuses primarily on the design, conduct and analysis of multi-institutional clinical trials, the epidemiology of autoimmune disorders, rare diseases and cancer quality of life and symptom management.