Swansea Rare Disease Study Day
2026-05-16 10:00 - 16:00 (Europe/London) | Morriston Hospital Education Centre, Heol Maes Eglwys Treforys SA6 6NL
Medics for Rare Disease is proud to support the Swansea Rare Disease Study Day, hosted alongside Swansea University. This free event brings together clinical experts, patient speakers, and multiple charities and advocacy groups to share knowledge and experiences in the field of rare diseases.
The day will feature:
* Clinical and patient talks from a range of speakers
* Oral presentation and poster competitions for medical students and resident doctors, with monetary prizes and certificates – great for specialty training applications
* Free lunch provided for all attendees
* Attendance certificates
Competition Submission:
If you wish to take part in the oral presentation or poster competition, please submit an abstract here
Booking:
Attendance is free, but spaces are limited. Secure your spot via Eventbrite
.
Contact:
For queries, please email:
Oscar: 2307053@swansea.ac.uk
Dr James Ainsworth: james.ainsworth@wales.nhs.uk
Join us for a day of learning, networking, and celebrating the rare disease community!

When to Suspect a Rare Disease in Any Practice Setting
2026-02-26 14:00 - 15:30 | LIVE STREAM
Join Medscape for a live educational session, ‘When to Suspect a Rare Disease in Any Practice Setting’, featuring our very own CEO Lucy McKay.
This live-streamed event will take place on February 26, 2026, at 2 PM GMT / 3 PM CET and will explore practical insights to help clinicians recognize when a rare disease may be at play across diverse clinical settings.
The event will be hosted live on Medscape’s social media platforms—no registration is required. Simply follow @Medscape to watch once the event goes live.

Rarely Taught: Reflections on Rare Disease Training Globally
2026-02-11 19:30 - 20:30 | ONLINE
Connect with healthcare professionals and students from around the world for a dynamic discussion on rare disease medical training across global contexts.
As part of this interactive session, we’ll also deliver a FLASH Rare Disease 101 training showcasing our updated e-learning course – giving you the opportunity to #LearnYourStripes ahead of Rare Disease Day 2026.
📅 Event Details
Date & Time: 11 February 2026, 19:30–20:30 GMT
Location: 💻 Online via Zoom
👉 Register via Eventbrite and receive the Zoom link shortly before the event
🌐 What to Expect
A concise, high-impact Rare Disease 101 teaching session
A shared conversation on learning needs, challenges and opportunities in rare disease medical training
Opportunities to connect with peers worldwide
🎟️ Who should attend?
Open to healthcare professionals and students globally. FREE to attend with optional £10 donation.
Whether you’re looking to expand your knowledge, gain a global perspective, or connect with like-minded colleagues, this event is the perfect way to kick-start your Rare Disease Day 2026 learning.
📌 Save the date and register now!

King's Health Partners Rare Disease Grand Round: Hepatobiliary disease
2025-11-03 13:00 - 14:00 | ONLINE
Join the upcoming Rare Disease Grand Round, hosted by the King’s Health Partners Rare Disease Network—bringing together researchers and clinicians across the region to foster collaboration, share insights, and advance rare disease research.
This session will focus on hepatobiliary disease, featuring expert talks on cutting-edge research:
Mind over MASLD: Unravelling brain dysfunction in steatotic liver disease – Dr Anna Hadjihambi, Group Lead, UKRI Future Leaders Fellow, King’s College London
Presentation by Prof Philip Newsome, Professor of Hepatology and Director of The Roger Williams Institute of Liver Studies – title to be announced
The event will be chaired by Dr Cristina Dias, Chair of the KHP Rare Disease Network, Clinical Reader in Genomics and Neurodevelopment at King’s College London, and Consultant in Clinical Genetics and Genomics at Guy’s and St Thomas’ NHS Foundation Trust.
Why attend? Connect with the King’s Health Partners research and clinical community, hear from leading experts, and explore the latest developments in rare disease research.
Recording available later on the KHP Learning Hub.

Soft UK Healthcare Professionals Seminar
2025-05-16 14:00 - 16:00 | Holiday Inn, Birmingham
SOFT UK invites healthcare professionals to a transformative seminar focused on the power of language in supporting families navigating rare genetic diagnoses and ongoing care. This event offers a unique blend of expert insights and heartfelt personal stories, equipping attendees with practical tools to foster meaningful and compassionate dialogue.
By attending, you will:
Develop your understanding of the impact of language upon parents and families facing diagnosis of rare genetic and life limiting conditions
Engage in face-to-face networking with trisomy family members, gaining first hand perspectives
Discover actionable strategies through real-life narratives to enhance communication during diagnosis and throughout ongoing care
At the end of the event we invite you to join us at a Rewards and Recognition dinner, where you can learn more about the work of SOFT UK and those who support us.

Swansea Rare Disease Study Day
2025-03-08 10:00 - 18:30 | Morriston Hospital Education Centre, Heol Maes Eglwys Treforys SA6 6NL
Dive deep into the world of rare diseases at the first Swansea Rare Disease Study Day on 8th March 2025!
Why attend?
Gain invaluable insights from our expert guest speakers.
Learn from our engaging panel discussions.
Meet a range of local patient advocacy groups to discover more about the lived reality of those impacted by rare conditions.
Network with others rare disease allies.
Enjoy a tasty lunch from Sue Franks catering.
Call for oral and poster presentations
Medical students and foundation doctors are invited to submit abstracts for oral presentations, and medical students and resident doctors of all grades for poster presentations. Cash prizes are up for grabs! Find out more and submit your abstract here https://forms.gle/pFhybxbJo1XbPU5U9 by 31st January 2025.
Don’t miss this opportunity to expand your horizons and become #RareAware!

First, do no harm: Expert reflections on a rare bone disease
2024-02-13 17:30 - 21:00 | hunterian museum
Medics4RareDiseases and FOP Friends, in collaboration with the Hunterian Museum at the Royal College of Surgeons of England, are hosting an evening reception for healthcare professionals, examining the contributions of patients and families to medical advances in Fibrodysplasia Ossificans Progressiva (FOP).
Come and find out how patient advocacy can change the course of rare genetic conditions and how basic principles of good clinical care can make all the difference to your rare patients both now and in the future.
FOP is just one example of a rare genetic bone condition that has been familiar to medicine for hundreds of years but is not familiar to the average healthcare professional because it impacts one in a million people.
Also like many rare conditions, what we do know about FOP is largely thanks to patients and families who have given their time, stories, samples and bodies to the pursuit of improving the outlook of those with FOP in the future.
You will hear patient stories from the 18th Century to the present day. Talks by people who live with FOP as well as advocates and clinicians who have been pivotal in improving life for those living with FOP today and developing treatments in the future.
Speakers include:
* Chris and Oliver Bedford-Gay – FOP Friends – Rare advocacy in medicine
Chris lives in with his wife Helen and three children, Oliver (15), Leo (14), and Harry (11). In 2009 His eldest son, Oliver, was diagnosed with the ultra-rare condition Fibrodysplasia Ossificans Progressiva (FOP). After this devastating diagnosis, Chris founded FOP Friends, the only UK charity dedicated to FOP, funding research, and supporting families. FOP Friends celebrated its 10th year as a charity in 2022.
As part of his commitment to the FOP community, Chris served on the board of the International FOP Association (IFOPA) from 2011 to 2022. He continues to chair the International Presidents’ Council for FOP, a group which brings together all the national FOP organisations from around the world. He is also involved at Beacon for Rare Diseases as part of the patient group engagement committee and has been in working with MPs in UK Parliament in debates on FOP and Rare Diseases along with discussions with the DHSC.
Charity work and FOP is, however, not Chris’ day-job. He has run his own software companies for the past 25 years. Chris is also involved in Manchester Round Table and Manchester 41 Club, charitable-social organisations which run events throughout the year to raise funds to support local charities and good causes. He also enjoys a range of sports including recently taking up lacrosse. Chris looks forward to his holidays with his family, with road-trips around America being his favourite way to spend summers.
* Professor James Triffitt – Professor Emeritus of Bone Metabolism, University of Oxford – Discovery and decision making
Professor James T. Triffitt’s first degree was in Biochemistry at Liverpool University where he also gained his PhD. He has worked in the USA for two extended periods, working on calcium metabolism with Professor Bill Neuman at the University of Rochester, New York and on bone morphogenesis and bone morphogenetic proteins with Professor Marshall Urist at the University of California at Los Angeles.
He joined the scientific staff of the Medical Research Council in 1966 and in 1992 he became the Head of the MRC Bone Research Laboratory at the Nuffield Orthopaedic Centre, Oxford. In 2000 he was awarded the title of Professor of Bone Metabolism following his transfer to a University of Oxford appointment.
His most recent research has defined the characteristics of the stem cells of bone and related tissues and the biological factors controlling bone tissue formation and turnover in normal and pathological conditions. He lead a team of scientists developing new methods for improving skeletal healing by stem cell therapy and genetic engineering. His research includes studies on the basic principles for tissue engineering of skeletal tissues and on the changes that occur in bone development and metabolism in common diseases such as osteoporosis and rare diseases such as fibrodysplasia ossificans progressiva (FOP).
* Lucy Pratt- Patient advocate – Patient leadership in rare disease
* Professor Richard Keen – Consultant in Rheumatology and Metabolic Bone Disease – RNOH – Looking to the future through research
*Dawn Kemp – Director of Museums – Royal College of Surgeons of England – The role of the Hunterian Museum in medical education
Attendees have the opportunity to view the skeletons of two people who lived with FOP, one in the 18th Century and the other over 230 years later in visits to the Hunterian Museum and RCSEng Anatomy and Pathology Museum.
Drinks and canapés will be provided.

Reframing Rare Disease
2023-03-06 18:00 - 19:30 | Clare College Medical and Veterinary Society
It may be impossible for all doctors to have knowledge of more than 7,000 recognised rare diseases. However, it is feasible for all future and current medical professionals to learn when to suspect a rare disease, to appreciate that rare diseases are collectively common and to recognise the exceptional challenges faced by those affected.
At this FREE event, you can expect to learn about rare disease from those with lived experience and from those working in this area in healthcare. Join Medics 4 Rare Diseases (M4RD) and the Clare College Medical and Veterinary Society in equipping medical students and doctors with the knowledge and tools they need to #DareToThinkRare.
Perfect for medical professionals and students wanting to learn more about and get involved in Rare Diseases.
Book Now

Showcase of Genomics across North Thames
2022-07-14 | UCL, Gower Street, London, WC1E 6XA, United Kingdom
Join the North Thames Genomic Medicine Service showcase to find out how genomic medicine is transforming healthcare in their region.
Genomic medicine is coming into every-day-practice for multi-disciplinary healthcare professionals across the NHS, improving how we diagnose and treat patients of all ages with cancer and rare or inherited diseases.
In North London, Essex and Hertfordshire, the North Thames Genomic Medicine Service is delivering new genomic tests and redesigning pathways with clinical services to bring the benefits of genomics to patients across the region.
In this one day showcase you can find out how genomic medicine is changing healthcare in the region, and hear about the new pathways now in place across many services.

11th European Conference on Rare Disease & Orphan Products (ECRD)
2022-06-27 - 2022-07-01 | ONLINE
The European Conference on Rare Diseases & Orphan Products (ECRD) is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape goal-driven rare disease policies and allow for important and innovative discussions on a national and an international level to take place.
ECRD 2022 will take place online on 27 June -1 July.
Leading, inspiring and engaging all stakeholders to take action, the Conference is an unrivalled opportunity to network and exchange invaluable knowledge with over 1500 stakeholders in the rare disease community – patient advocates, policy makers, researchers, clinicians, healthcare professionals, healthcare industry representatives, academics, payers, regulators and Member State representatives.
This 11th edition follows a pivotal two-year Rare 2030 Foresight Study, supported by the European Parliament and European Commission, that guided a large-scale and multi-stakeholder reflection on rare disease policy in Europe through 2030.
The concluding recommendation of Rare2030 was the need for a new European policy framework on rare diseases with measurable and actionable goals. Current actions at Member State level alone, or legislative changes in specific areas are not enough. We need a new European collective strategy for rare diseases to bring Member States’ commitment to rare diseases under a common umbrella and mark a step forward in the post-COVID world.
This ECRD will be a critical opportunity for all stakeholders to consider how to transform this exhaustive review of the strategy on rare diseases into a proposal of concrete actions ultimately creating the ecosystem required to address the unmet needs and persisting inequalities across Europe.

Alumni Angles: In conversation with Professor Sir Andrew Pollard
2022-05-04 18:15 - 20:15 | Queen Mary University of London, Perrin Lecture Theatre, Blizard Building, Faculty of Medicine & Dentistry, 4 Newark Street, London, E1 2AT, United Kingdom
Join QMUL for a special in conversation event with vaccine expert and alumnus Professor Sir Andrew Pollard (Medicine MBBS, 1989), who leads the team behind the Oxford-AstraZeneca vaccine for COVID-19.
You will also hear from the Principal, Professor Colin Bailey CBE, Professor Sir Mark Caulfield, Vice-Principal (Health), and our chair, Dr Vanessa Apea, Consultant Physician in Sexual Health and HIV Medicine at Barts Health NHS Trust.
This event will be held in the Perrin Lecture Theatre, Whitechapel campus and will be live-streamed to an online audience.

Stuart Green Memorial Lecture 2021
2021-06-22 17:30 - 18:30 | ONLINE
Dr Stuart Green was a consultant at Birmingham Children’s Hospital who set up the Paediatric Neurology department. He was known internationallly for his expertise and was loved and respected by patients and colleagues alike for his kindness, wit and wisdom.
This public lecture set up in his memory takes place at Birmingham Children’s Hospital, every year in June and is appropriate also for a non-specialist audience.
The 2021 lecture will be held as a virtual event on Tuesday 22nd June 5.30-6.30pm. Young author and former BCH patient Sarah Lippett will talk about her experience of growing up with a rare disease as illustrated in her award-winning graphic novel “A puff of smoke” http://www.crayonlegs.com/portfolio/a-puff-of-smoke/.
You can find out more about the Stuart Green Memorial Fund at https://bwc.nhs.uk/stuart-green-memorial-lectures-and-bursary/

Refsum Disease from an Ophthalmology Perspective
2021-02-23 12:00 - 13:00 | ONLINE
Dr. Bart Leroy, MD, PhD will present the Ophthalmology side of Refsum Disease and the benefits of early diagnosis by clinicians
Adult Refsum Disease is a genetic disorder impacting the metabolism of phytanic acid. The key symptoms are Retinitis Pigmentosa, loss of smell, hearing loss, numbness, balance issues, itchy skin, shortened fingers and toes. It is one of the few causes of Retinitis Pigmentosa that has a proven dietary therapy to slow vision and hearing loss. Therefore, early diagnosis is critical.

Register NOW for this FREE online event

The 10th European Conference on Rare Diseases & Orphan Products (ECRD)
2020-05-15 - 2020-05-16 | ONLINE
The European Conference on Rare Diseases & Orphan Products (ECRD) is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.
The event draws together more than 800 participants from over 50 countries around the world. Leading, inspiring and engaging all stakeholders to take action, ECRD is where innovative solutions in the rare disease field are born. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community – patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators.

Rare disease spotlight: Aspergillosis
2020-02-03 18:00 - 21:00 | Barts & The London School of Medicine – Garrod Building, London, E1 2, United Kingdom
In collaboration Barts & The London, we will be shining the spotlight on Aspergillosis
Fran Pearson, a patient who was diagnosed with Aspergillosis and Dr Darius Armstrong, a consultant in Infectious Disease and Mycology will be hosting this event.
You will have the opportunity to learn more about the patient’s experience of being diagnosed with a rare infectious disease and the challenges faced by doctors when diagnosing patients with infectious diseases.

Hit and Miss: Genetic diagnosis, misdiagnosis and learning
2020-01-28 18:00 - 19:30 | Kings College London Guys Campus, New Hunt's House, London, SE1 9RT, United Kingdom
A potpourri of genetic diagnosis, misdiagnosis and learning experiences
KCL Medical Genetics Society’s second lecture of the year will held by Dr Willie Reardon, sharing his experience as a Consultant Clinical Geneticist at Great Ormond St Hospital for Children, Hospital for Sick Children Toronto and Our Lady’s Children’s Hospital.

Direct-to-consumer genetic testing: Health and ancestry
2019-11-22 08:30 - 17:00 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
The direct to consumer genetic testing is on the rise worldwide, and while these tests provide people access to their genetic information without necessarily involving a healthcare provider, the patients search for their doctors’ advice on the results.
From genealogy to health, healthcare providers are expected to be able to respond to the patients’ questions and be well informed of the benefits and risks of genetic testing direct to the public.
Through multidisciplinary lectures from renowned specialists as well as lively panel discussions, this event will give you a comprehensive view of the tests available and their implications. The meeting will close with a rerun of the dynamic 2018 Varsity debate on the subject and votes from the audience.
Meeting topics:
– The genetic tests on offer, both for health and for ancestry.
– Insight into the implications of DTC genetic testing.
– Understand the potential impact of DTC in liver cirrhosis
– Discuss the ethical concerns and challenges posed by DTC
– Know the precision of ancestral DNA testing
– Understand the impact of ancestral testing on populations
Early bird pricing available until 18 August 2019

The 33rd symposium: Cystic fibrosis in children and adults
2019-10-08 08:45 - 16:30 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Learn from specialists which children with symptoms need to be seen earlier and how to deal with health issues such as visual problems and poor dental hygiene. Explore unusual paediatric presentations that do not have a clear pathway to diagnosis and need multidisciplinary management.
This is a joint event with the Odontology Section and therefore the programme will highlight key areas such as tooth decay in children and acute dental problems.
Topics include:

How to identify key pointers to diagnosis
Current best practice
How to manage unusual paediatric presentations
The value of effective communication between specialities

Pompe Preceptorship
2019-10-03 09:00 - 2019-10-04 13:30 | Mercure Hotel Manchester, Manchester Piccadilly, Manchester, M139WU, United Kingdom
Pompe Preceptorship, hosted by Mark Holland from the Metabolic Unit, Manchester
Topics to be included:

Biochemistry & Genetics of Pompe Disease
Infantile & Adult Pompe Disease
Metabolic Myopathy
Benefits of exercise in Pompe Disease
Nutrition in Pompe Disease
Respiratory function
Palliative care
Research in Pompe
Future of Gene Therapy
AGSD – Patient Society
Patient’s Experience of living with the condition

This event is open to all medical staff but places are limited. Funding for this event is available.
For further information and to request a registration form please contact:
Karen Wynne, Mark Holland Metabolic Unit, Email: karen.wynne@srft.nhs.uk
Telephone: 0161 206 4365

RAREsummit19
2019-09-23 08:30 - 17:30 | Wellcome Genome Campus Conference Centre
RAREsummit19 is a 1 day summit focusing on patient-centricity in rare disease progress.
We’ll be highlighting exemplars of patient, patient advocacy groups and carers involvement in the development of drugs, healthcare and assistive technologies. Join us at the Wellcome Genome Campus: a hub of life-changing science. We think it’s the perfect venue to make progress for rare diseases.
Early bird tickets available. Tiered pricing.

Health Horizons: Future Healthcare Forum
2019-06-27 16:00 - 18:00 | Corpus Christi College Lecture Theatre, Trumpington Street, Cambridge, CB2 1RH, United Kingdom
Over the previous 20 years, we have seen a significant change in the healthcare industry. Small molecules have been pushed out of the blockbuster limelight by biologics. Decreasing sequencing cost has allowed more targeted R&D and the use of increasingly interdisciplinary data to influence prognosis has become standard practice. All of this points to a healthcare future with an increasingly personalized approach. But how will this future come together?
RARE DISEASE: CROSS-SECTOR COLLABORATION AND DIVERGENT THINKING IN DEVELOPING THERAPIES. Are we on the cusp of a rare disease treatment revolution?
Delegates will hear from a range of experts in this field, each with a unique perspective on the future of healthcare, treatments and cures for those affected by rare diseases.
This CRDN session brings together stakeholders from research, industry, healthcare and patient groups who are at the heart of innovative breakthroughs in therapies and technology to share their expertise in co-creating healthcare today, and for the future. Hear a mix of inspirational and thought-provoking short talks and take part in a moderated discussion session.

Epigenetics: The Emerging Key Player in Medicine
2019-06-10 08:30 - 17:30 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Epigenetics is emerging as a key player in medicine.
Well-known experts in the epigenetics world such as; Professor Wolf Reik, Professor Stephan Beck, Professor Sir Adrian Bird, and Dr Nessa Carey will come together and give awe-inspiring talks across the epigenetics spectrum, from its role in cancer to mental health, the relevance to primary care and preventative medicine, to rare diseases and what we can learn from these.
We will hear from those at the cutting edge of the epigenetics revolution and provide valuable insights into health, disease and new treatments.
Early Bird pricing available until 19 April 2019 – RSM Students £25

BOOK NOW
Meeting topics

Understanding epigenetics and the role of chemical modifications to DNA in shaping health and disease
Exploring our increasing appreciation of the impact of epigenetics upon a diverse range of biological processes and diseases, from cancer to mental health
Recognising the increasing importance of developing an understanding of epigenetics in clinical practice
Discussing the role of epigenetics in developmental programming and the bridge between nature and nurture

PKU: A Heads Up
2019-05-24 09:30 - 16:00 | Salford Royal Hospitals NHS Foundation Trust, Stott Lane, Salford, Manchester, M6 8HD, United Kingdom
Leading experts will explore the pathophysiology of PKU, the impact of high phenylalanine levels on the brain of adult patients and the effect of PKU and aging.
Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. Without treatment, children develop permanent intellectual disabilities. Seizures, delayed development, behavioural problems and psychiatric disorders are also common.
This day will explore:

Psychological disorders and mental health
Neurological deterioration
Bone health
Premature aging
Nutritional complications

For more information and to book tickets email keeley.crompton@srft.nhs.uk

Rare diseases and the Kidney
2019-05-08 08:45 - 17:00 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Hear expert nephrologists from clinical and academic fields present the latest updates and developments in a variety of rare disease areas.
The meeting will be of relevance to medical student, trainees and consultants as it provides a unique opportunity to keep up to date with latest clinical developments, opportunities and research being conducted, plus MDT and patient partnerships for these conditions.
Rates start from only £20!
Meeting topics:

Expert overview of a number of rare diseases affecting the kidney
Best medical management and potential treatments
Latest research, developments and opportunities for future research using the RADAR network

For more information and to book tickets, visit the RSM Website.

A Talk On Haemophilia
2019-03-18 18:00 - 20:00 | New Hunt’s House Library, Guy's Campus, London
KCL MedGenSoc presents: A Talk on Haemophilia
We are honoured to be hosting no less than two guest speakers for this event;

KCH Haematology Consultant Dr Catherine Rea, who specialises in clotting disorders
YouTuber Luke Pembroke, who himself suffers from Haemophilia

Refreshments will be served before and after the talk.
A sign up for a certificate of attendance will be available at the end of the lecture.
As always, external staff and students are more than welcome to attend, but purchase a free Eventbrite ticket at least 24 hours before the event
This talk is in association with Medics 4 Rare Diseases and sponsored by the MDU.

Rare Disease Day 2019
2018-12-01 | Guildhall Cambridge, Cambridge, United Kingdom
It’s 2018 and rare diseases are still not being consistently diagnosed, treated and supported effectively.
Free to attend, this 2-day festival will shine a light on some successes and innovative solutions that are striving to address this. RAREfest will raise awareness of rare conditions and bring together all stakeholders in the rare disease community alongside the general public from across Cambridgeshire and beyond.
