Meet Ireland's Rare Disease Researchers!
This is a space for members of our Rare Disease community to showcase their research, network and keep updated with rare disease research in Ireland.
We would be happy to connect you with another RDCTN member listed on our website. And, if you are interested in contributing to this research space, please click here:
Navigate the researchers
*search for rare disease keywords by pressing ctrl+F (Windows) or command+F (Mac)
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Rare Disease Ireland (RDI) is a patient advocacy national alliance for voluntary groups representing people affected by or at risk of developing a rare disease. RDI is committed to the identification, treatment, and cure of rare disease through programs of education, advocacy and patient engagement.
Patient advocacy, national alliance, advocacy, patient engagement
Prof Rachel Crowley is a consultant endocrinologist in St Vincent’s University Hospital and Clinical Professor at University College Dublin. She has a research interest in rare bone and rare endocrine disease, clinical trials and methodology. Her Orphanet rare bone clinic at SVUH is the lead adult Irish site for the European Reference Network for Rare Bone Disease (ERN BOND). She is co-lead of the Rare Disease Clinical Trial Network and lead of the Rare Disease Research Catalyst Consortium, a member of the Irish National Mirror Group for rare disease and contributes to ERDERA and JARDIN projects.
Rare, clinical trial, methodology, endocrinology, bone
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As PPI Liaison Officer, I’m dedicated to ensuring all the RDCTN efforts align with the genuine needs and priorities of those affected by rare disease. I facilitate a dedicated panel of individuals living with rare diseases as partners in shaping all aspects of our operations – from recruitment strategies to research agendas and funding decisions. Through committees and workshops, we provide platforms where patients, caregivers, and advocates can voice their needs and share their insights. The involvement of patient partners in rare disease research leads to outcomes that are not just scientifically relevant, but that can have profound impact on the lives of patients, caregivers, and families.
Lived experience, public and patient involvement, ppi, patient advisory group, patient engagement, patient partner
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I am a PhD candidate in the Respiratory Research Lab at UCD. My research is focused on Idiopathic Pulmonary Fibrosis (IPF), a rare lung disease. I am working to define the signatures of macrophages, an important immune cell, in IPF using a multi-omics approach. With a background in bioinformatics, I analyse complex datasets to extract meaningful insights that contribute to our understanding of rare disease mechanisms.
Using my bioinformatics experience, I work with the RDCTN to provide research project support to collaboratively drive advancements in rare disease research.
Bioinformatics, Idiopathic Pulmonary Fibrosis (IPF), lung disease, data, immunology, macrophage
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Dr Lisha Joshi’s research aims to elucidate the molecular mechanisms and metabolic alterations in rare lung diseases.
Her research is focussed on understanding the bioenergetics of immune cells in chronic lung diseases.
Interstitial Lung Disease, Idiopathic Pulmonary Fibrosis
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We are addressing the following questions:
1. What biomarkers accurately track glomerular inflammation in ANCA vasculitis?
2. What molecular and cellular events lead to myeloid cell dysfunction in ANCA vasculitis?
3. What underpins the large variability in clinical phenotype observed in ANCA associated vasculitis?
4. How can we minimise the adverse events associated with existing immunosuppressive therapies?
5. How do we predict relapse in ANCA vasculitis?
The overarching goal of the group is to develop predictive tools that model molecular, biomarker, patient-reported and clinical data streams to support personalised care to patients with autoimmune disease. The group interfaces directly with the Chronic Disease Informatics Group and the RIV Registry and Biobank to achieve this goal.
To assist in answering these questions, we have set up an infrastructure that allows the collection of longitudinal clinical data in the form of a national registry and biobank, which is linked to a basic science laboratory.
Vasculitis, ANCA, Glomerulonephritis, Biomarker, Precision medicine
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I am a clinician scientist focused on understanding the pathogenesis of rare lung diseases and interstitial lung disease. My research centres on the molecular mechanisms underlying these conditions, including the glycobiology of plasma proteins, cholesterol regulation in macrophages, and lipidomics in the lung. My translational research has contributed to the understanding of pulmonary alveolar proteinosis (PAP), identifying novel therapeutic targets and providing insights into the syndrome’s epidemiology. I have also underscored the importance of appropriate diagnostic testing and explored novel radiological techniques to monitor disease progression. My research into cholesterol homeostasis in macrophages has led to promising therapeutic approaches, such as repurposing statin and pioglitazone therapy, which are currently being trialled.
In clinical research, I focus on diffuse cystic lung diseases, including lymphangioleiomyomatosis (LAM). Recently, I established the National Cystic Lung Disease Referral Centre in Ireland and am developing a national LAM patient registry in partnership with the Irish Thoracic Society. With experience in both clinical and translational research, I have published on PAP syndrome’s epidemiology, diagnostic testing for autoimmune PAP, and the use of novel imaging techniques to assess disease burden.
Pulmonary alveolar proteinosis (PAP); interstitial lung disease (ILD); lymphangioleiomyomatosis (LAM); cholesterol homeostasis; glycobiology; cystic lung disease

Darran Mc Donald
Endocrinology - pituitary, adrenal, bone
MD candidate researching radiotherapy late effects in brain tumour survivors.
Cancer survivorship, radiotherapy late effects, hypopituitarism

Ciara McDonnell
Rare bone diseases, skeletal dysplasia’s & diseases of calcium and mineral metabolism
OurTribe is the Centre for Rare Bone conditions of childhood and is based at CHI at Temple St. This is a translational research group currently involved in therapeutic trials in Achondroplasia, natural history studies and investigator led research into OI in infancy.
Osteogenesis imperfecta; Paediatric Osteoporosis; XLH; Inherited rickets; Collagen 2 abnormalities; Hypophosphataemic rickets; Achondroplasia; Chondrodysplasia

Sinead Murphy
Inherited ataxia, TTR amyloidosis, Charcot-Marie-Tooth disease
National Ataxia Clinic TUH for patients with ataxia/hereditary spastic paraplegia (HSP): site for ERN-RND, recruit patients with Friedreich’s ataxia to UNIFAI (formerly EFACTS).
Neuropathy clinic TUH for patients with neuropathy including CMT, other inherited neuropathies and TTR amyloidosis.
Inherited ataxia, TTR amyloidosis, Charcot-Marie-Tooth disease, CMT, inherited neuropathy
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Stephanie O. Sangalang
Rare diseases
I am a postdoctoral researcher based at University College Dublin. I am involved with Work Package 4 of the Health Research Board (HRB) Rare Diseases Research and Innovation Catalyst Awards (RDCat). Prior to arriving in Ireland, I worked as paediatric nurse at Stanford University / Lucile Packard Children’s Hospital in California, U.S.A. I have also worked as a consultant for the World Health Organization in Germany and the Philippines.
Patient-centred outcome measures, patient-reported outcome measures, orphan medicinal products, patient-public involvement
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Dr Julie Worrell is a biomedical research scientist at the Conway Institute, University College Dublin, Ireland. Her work is focused on understanding the contributions of lung stromal immune cell interactions to tissue homeostasis, injury, and repair. Julie is actively involved in several projects profiling fibroblasts and immune cells and their role(s) in the development/pathogenesis of rare human interstitial lung diseases.
She has a particular interest the expression of immune molecules (chemokines and transcription factors) by lung fibroblasts, with a specific emphasis on their contributions to lung health (e.g., chronic fibrotic conditions, and viral infections). This work incorporates physiologically relevant in vivo models and active collaborations with clinical researchers.
Interstitial Lung Disease, Fibroblasts, Lung, Inflammation, Fibrosis, Hyperplasia