"I am passionate about contributing to improved outcomes for patients. This role allows me to combine my clinical research background with meaningful work that supports better understanding, earlier diagnosis, and improved care pathways for patients who are often underserved." - Nijat Ahmadi
As an ERN Data Manager, Nijat brings over 3 years of experience in multi-centre clinical studies. Nijat’s focus on data quality and regulatory standards means that RD services in Ireland are "Trial-Ready", connected to European-wide research initiatives, and evidence-based.
A man in a black jacket stands next to a banner with rare disease colours on it.
We are thrilled to see an exciting trend in Irish healthcare: investment in roles that strengthen the link between clinical care and research. We believe that data is the fuel for future breakthroughs, and that's why we are delighted that
@svuh.bsky.social has welcomed Nijat Ahmadi!
One year ago, the community gathered together for our 2025 Conference. It was so powerful, we’re doing it again!
✨ SAVE THE DATE: 5th Nov 2026, O'Reilly Hall, UCD
Take a trip down memory lane, and get ready for the next chapter:
How does Athira's role matter for Ireland? She ensures that rare bone disease data meets the high standards of European Reference Networks (ERNs), her work supports better research links between Ireland and our European partners, and high-quality data can lead to specialized care
Athira’s background is a fantastic example of the multidisciplinary talent we need! A qualified dentist with an MSc in Clinical and Translational Research from @ucdresearch.bsky.social she is now applying her clinical knowledge to complex rare disease registries.
A woman with dark hair looking at the camera, wearing a white shirt
Strengthening Rare Disease Care at St. Vincent's University Hospital @svuh.bsky.social 🏥 The rare disease landscape in Ireland is gaining momentum, and we're thrilled to see "better outcomes" become reality. A big welcome to Athira Mariam Kurian, the ERN Data Manager for Rare Bone Diseases!
Are you chromat-in or chromat-out? 🧬
Less than 2-weeks left to submit your abstract for this years @aicc-ireland.bsky.social symposium in @ucddublin.bsky.social ! We will be choosing talks & posters from these abstracts to present - with some fantastic prizes available.
Registration link below 👇
A cut-out image showing the contents of the USH Awareness Pack, including leaflets, booklets, glasses, stickers, and QR cards. Above the image is the text: “I’ve never heard of Usher syndrome - can you explain what it is to me?”
“I’ve never heard of Usher syndrome - can you explain what it is to me?”
This is still happening in healthcare. We’re working to change that. Get in touch for a free HCP USH Awareness Pack (Ireland & Northern Ireland). We also offer talks & training.
#UsherSyndrome #HealthcareAwareness #SpeirGorm
She collaborated directly with the rare disease community to develop a new PREM to assess and improve the quality of secondary and tertiary care in Ireland. This demonstrates how lived experience can shape tools that drive improvement. Congratulations, Stephanie! 👏🎉
Stephanie’s presentation, "Development of a Patient-Reported Experience Measure (PREM) Informed by Real-World Evidence" is a stellar example of "nothing about us without us."
A woman with dark hair standing at a podium, while wearing a yellow blazer
A fabulous achievement by Stephanie Sangalang, PhD, MSc, RN (Research Fellow at RDCat, UCD School of Nursing, Midwifery and Health Systems) for taking home the runner up award for best oral research presentation at the RAiN All Ireland Fest! 🏆
🔬 How do we improve diagnosis for people with undiagnosed conditions?
📅 30 April | #UndiagnosedDay 2026
🌟 Expert & lived‑experience panellists
👉 View the agenda and register: https://loom.ly/DbXzw0E
#RareDiseases #Diagnosis #HealthPolicy
🌍 World Health Day 2026
Let’s stand together to support science, fight misinformation, and ensure that everyone, everywhere has access to the care they deserve.
💙
#WorldHealthDay #WorldHealthDay2026 #StandWithScience #ThePeoplesReview #IAmCharlene
"My goal as a Data Manager is to transform unstructured clinical data into clear, reliable evidence that supports more coordinated, patient‑centred rare disease care." Vikas brings his expertise to a dedicated team, who aim to promote high‑quality care in rare disease. Welcome!
In this role, Vikas will be managing and analyzing datasets for rare lung conditions, contributing to registries and Orphanet-related activities, and strengthening rare disease services to support more coordinated, informed care pathways. @erdera.bsky.social @eurordis.bsky.social
A man wearing a black suit and glasses, smiling at the camera
We are delighted to welcome Dr. Vikas Reddy V to St. Vincent's University Hospital as the new ERN-LUNG Data Manager! With a background as a PharmD and an MSc in Healthcare Informatics, he brings a powerful combination of clinical insight and data expertise. @svuh.bsky.social
This builds on the Oireachtas Cross-Party Group discussions in December where Prof Crowley highlighted the need for fair drug reimbursement for RD.
@ectssociety.bsky.social, @rareireland.bsky.social, @eurordis.bsky.social, @erdera.bsky.social, @svuh.bsky.social, @endocrinesociety.bsky.social
How do we take clinical trials and turn them into accessible treatments for RD patients? Prof Crowley will cover: The international guidelines published last year, RDCTN involvement with the AXLES and BUR02 trials, patients' real-world experience (inc. access to RD treatments)
A flyer for the conference with QR code to register
RDCTN co-lead, Prof Rachel Crowley, is looking forward to the European Calcified Tissue Society (ECTS) conference, where she is an invited speaker! She will be speaking on X linked hypophosphatemic rickets (XLH), a rare condition that has been at the heart of our work in RDCTN.
"The CINDI Registry: Successes and challenges of establishing a diagnosed and undiagnosed paediatric neurogenetic registry in Ireland," highlights some incredible work in the rare disease space. Brilliant work, John! 👏🎉
A colourful award next to a white plaque
Huge congratulations to John Coleman (RDCat Fellow & SpR Clinical Genetics) for winning the Best Oral Presentation award at RAiN Fest! 🏆 His project utilises research to improve timely diagnosis for children with rare diseases in Ireland. @rareireland.bsky.social
Stock image of woman talking to group of people
Research addressing sustainable aviation, elite sport performance, and therapies for vision loss among 46 projects funded under the Enterprise Fellowships programme. See how researchers and enterprise partners are joining forces to create real impact: www.researchireland.ie/news/enterpr...
A pleasure to connect with familiar partners, and meet new people who share our passion. A great programme of talks, including Mal Duffin speaking on Innovative Tools for Rare Disease Patients & Families - demonstrating the power of lived experience in identifying needs and solutions.
Delighted to join RAiN Fest today in University College Dublin, thank you to Dr. Suja Somanadhan and Prof AJ McKnight for bringing together rare disease stakeholders from all across the island, as "rare disease has no borders"
What’s happening in Irish Rare Disease Research?
All these stories, and more, coming soon to your inbox (but only if you’re a subscriber!)
To stay in the know, sign up for our newsletter today: eepurl.us8.list-manage.com/subscribe?u=...
Finn Hanrahan
We’ve partnered with Mediaplanet on today’s Life Science Innovation report, launching online and within every copy of the @independent.ie. Featured is an article by Dr Finn Hanrahan, Research Ireland, who discusses the role of research in life science evolution: www.healthnews.ie/life-science...
A young child in a floral hat and pink sweater sits outdoors by a river, highlighting the 5-year average wait for rare disease diagnosis.
🧬 It takes on average 5 years to diagnose a #raredisease. 70% of patients wait more than a year after first seeking medical attention. #Diagnosis should not depend on where you live. Earlier, equitable access to diagnosis must be the standard. 🔗https://go.eurordis.org/rare-disease-diagnosis
Group photo of diverse individuals, including several in wheelchairs, gathered in a bright room with large windows and a presentation screen behind them.
Last Friday, Adéla Odrihocká represented EURORDIS at the Youth Policy Dialogue with Commissioner Hadja Lahbib, raising key issues for people living with rare diseases, including employment, disability recognition & accessibility. 🔗 Read more: https://go.eurordis.org/MidReview
