Medics For Rare Disease

BPSU Annual Symposium
2023-02-28 | RCPCH Council Chambers, 5-11 Theobald's Road, London, WC1X 8SH, United Kingdom
The BPSU is currently planning to hold its yearly Symposium on rare diseases on 18th October 2022 and are in the process of compiling an agenda for the day, which will take place at the RCPCH council chambers on 13th October 2022.
Join the BPSU, NHS clinicians, and patient groups for what is looking to be an informative event which will acknowledge the current work conducted on rare diseases in children and raising awareness of such.
For more information email Charlotte Lewis

Conducting rare disease research in the context of clinical care
2023-02-28 11:00 - 13:00 (Europe/London) | ONLINE
11.00 am Introduction and welcome Tony Lockett (CPMR London)
11.05 am Dr Lucy McKay (Medics for rare diseases)- Can Medical Education
Help in the Conduct of Research in Rare Diseases?
11.30 am Dr Robin Lachman (University College London) – Does
Evidence-based Medicine Work for Rare Diseases?
12.00 pm Fleur Chandler (Sanofi) Putting it into perspective, a view from
both sides for evidence generation in rare paediatric conditions
Join the meeting here

Beyond the Student Voice Prize
2023-02-28 19:00 - 20:30 | LIVE STREAM
The Student Voice Prize is delighted to invite you to our second annual virtual rare disease day event ‘Beyond the Student Voice Prize;’ an opportunity to connect with peers and patient group leaders to learn more about the rare community and how you can get involved and continue your advocacy.
What can you expect?
The event will be an informal opportunity for you to meet fellow entrants to the competition, connect with patient group advocates and hear from those working actively in rare diseases. There will be a series of short inspiring presentations from a cross-section of individuals as well as handy guidance for getting more involved with the rare disease community and building a focus on rare into your career.
Who is this event for?

Previous entrants of the Student Voice Prize
Prospective entrants of the Student Voice Prize
Medical students interested in learning more about rare conditions and getting involved in the community
Rare disease patient group leaders who have been involved in the Student Voice Prize in the past
Rare Disease patient group leaders who haven’t been involved in the Student Voice Prize in the past- all are welcome!

Why should you attend?
Rare diseases are collectively common, meaning you are likely to come across them in one form or other in your medical career. Learning about them early can better prepare you as a future clinician and can ensure better outcomes for individuals diagnosed and living with rare conditions.
Rare diseases are gaining increasing momentum as pressing health priorities worldwide, compounded by advances such as the first-ever UN Resolution on persons with rare diseases and the new UK Rare Diseases Framework. There has never been a better time to get involved with the rare disease community to help create change, raise awareness and drive your own personal development.
The Student Voice Prize is much more than just a competition. It has proven itself to be a gateway for many medical students, nurses and scientists who want to engage with patients from across the medical spectrum, particularly in rare disease. This is your chance to go beyond and become an advocate for a large, but poorly represented community and help make a real difference in the lives of rare disease patients and their families.
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The Student Voice Prize is a project run in collaboration by Medics4RareDiseases (Charity No 1183996) and Beacon (Charity No 1149646)

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

RSE Network Support Meeting
2023-03-17 - 2023-03-18 | ONLINE
Rett syndrome is a rare, genetic, neurological disorder affecting mainly females (1:10,000) and very few males. It is present from conception. After a period of ‘near normal’ development, the child experiences a regression in key skills, usually mobility, speech and hand use between the ages of one and two years. The child may appear very withdrawn during this stage and this often leads to a misdiagnosis of being on the autistic spectrum. Multiple comorbidities appear post regression including epilepsy, breathing disruption, scoliosis, gut and bowel problems. Whilst the disorder is genetic, in the majority of cases it is not inherited. Rett syndrome is usually caused by a fault on a gene called MECP2 which is found on the X chromosome. People with Rett syndrome have profound and multiple physical and learning disabilities. They are totally reliant on others for support throughout their lives, yet they are radiating love and enjoying their life to the fullest.
We are delighted that registration is now open for the Rett Syndrome Europe Network Support and Research Event. Many thanks to our funders The European Joint Programme for Rare Diseases Network Support Scheme and our sponsors Anavex, Taysha, Neurogene and Neuren for making this possible.
The main meeting is in Budapest, Hungary with satellite meetings in the UK, Netherlands, Serbia, Georgia, Croatia and Turkey. The ‘in person’ satellite meetings are by invitation only but anyone can register to view the presentations which are being shown on 17/18 March 2023. They will also be available post event to view at a time of your choosing.
We have a limited number of places for people to attend the satellite meeting at The Angela Ruskin University, Cambridge in person. It is free including lunch both days and dinner on the Friday evening. If you are interested in this opportunity to meet and network with several experienced Rett researchers and clinicians, please email bjenner@rettsyndrome.eu

SFGH Global Health Conference
2023-03-25 - 2023-03-26 | Manchester Royal Infirmary
Students for Global Health is excited to announce that our Annual Global Health Conference which will be held in Manchester over the weekend of March 25th-26th!
Students for Global Health is an organisation, network and community. In our 20 year history, we have evolved into the leading student voice for health, representing students who are passionate about creating a fair and just world in which equity in health is a reality for all.
This conference is open to all students and graduates with an interest in global health, as well as international students. This is an excellent opportunity for you to meet with like-minded individuals, network with professionals in the field, and gain valuable insights and knowledge on the latest developments in global health.
We will have speakers covering topics ranging from deconstructing colonial narratives within medicine and health to adolescent global health.
There is also an opportunity for those who have undertaken research or electives abroad to submit and present an abstract on any topic related to global or public health. Link to submit an abstract: https://forms.gle/VaFcSJkpQRovHMuW6
Transport and accomodation funding may also be available! For any queries regarding this, please contact director@studentsforglobalhealth.org
We look forward to welcoming you all!

Aims Meeting
2023-04-13 - 2023-04-16
AIMS Meeting [Annual International (bio)Medical Students Meeting] is the largest biomedical conference in Europe organized entirely by medical students, gathering each year over a thousand participants from all the world.
It is held annually in Lisboa, Portugal and is advocated by the Faculty of Medicine of the Lisbon Students’ Local Committee.
AIMS Meeting highlights the importance of medical education for all students of health sciences through a diverse approach and is a platform to build bridges between biomedical students around the world.
March of 2022 was marked by the one of the more ambitious editions of the AIMS Meeting so far! In 2023, we are aiming even higher.
The registration process for the AIMS Meeting 2023 is now open!
Don’t miss this oportunity to participate in the largest Biomedical meeting in Europe organized by students! You can attend in person or register to watch online.
If you have any questions, contact us at support@aimsmeeting.org.

3rd International Conference on Lysosomal Diseases
2023-04-20 - 2023-04-21
We are close to our “3rd International Conference on Lysosomal Diseases” which takes place 20-21 April 2023, in London, UK.
The conference is offering 35% DISCOUNT on registration fee to students and fellows.
Here is the link for the programme https://med-lysosomal.com/congress-agenda/
The abstract submission is open via the link https://med-lysosomal.com/abstracts/
Please contact Rosemarie to receive the discount code for registration – rosemarie@bioevents-congress.com

LinkAGE Webinar: Repurposing drugs for rare disease
2023-04-20 17:30 - 19:00
Following on from the first three Genomics Education Programme webinars in the LinkAGE series, the next talk followed by a live Q&A will be broadcast on Thursday 20 April at 5:30pm.
In this pre-recorded webinar, Dr Hassan Shakeel will describe his work repurposing drugs for rare disease. This culminated in an algorithm that can screen clinically approved drugs for trial use in rare developmental disorders.
Find out more about the webinar on the GEP event page. Receive a link to watch this exciting talk and join the Q&A by completing the registration form.

Women in Healthcare: 3rd Annual Conference: Beyond the Ward
2023-04-29 09:00 - 16:30 | ONLINE
Some more info we share for advertising:
Are you a medical student or doctor who is interested in exploring unconventional career paths in medicine? Then we have the perfect event for you! BL Women In Healthcare proudly presents our 3rd Annual Conference: Beyond the Ward.
This year’s conference will take place online on Saturday, 29th April 2023, from 9.00am to 4.30pm. You will have the opportunity to hear from inspiring speakers who have pursued various career paths in medicine, including MedTech, humanitarian medicine, expedition medicine, medical education, and more. We will also be holding interactive workshops geared towards portfolio building.
The conference is open to all, so don’t miss out on this amazing opportunity to learn about exciting new career paths and network with like-minded individuals.
Some of the highlights of the conference include speakers talking about their experiences in MedTech and AI, the NHS Clinical Entrepreneurship Programme, MSF (Doctors Without Borders), expedition medicine, workshops about the Specialised Foundation Programme and leadership in medical school, and so much more.
All ticket proceeds will be going to a local charity supporting women. Tickets are available here: https://www.qmsu.org/ents/event/18671/

This event is definitely not one to miss!

NHS East Genomics Showcase
2023-05-04 09:00 - 16:00 | Kingsgate Conference Centre
On Thursday 4th May 2023 NHS East Genomics will be holding an in-person Showcase event at the Kingsgate Conference Centre, Peterborough.
As well as celebrating successes from their transformation projects across a range of cancers, rare diseases and conditions, plus how they are helping to support and develop their local NHS workforce, delegates will also benefit from networking opportunities through their interactive ‘Marketplace’, hearing from expert guest speakers – including first-hand patient stories – and learning more about:
how they are working with partners to increase awareness of, and access to genomics and genetic testing
their work to reduce health inequalities and improve equity of access to genomic medicine
specific work on a range of cancer and rare disease pathways
awareness raising, community engagement, screening and earlier diagnosis to improve detection rates and patient outcomes
how they are representing the public and patient voice
how they are supporting their local NHS workforce to embed genomic medicine
the road ahead: what’s next for genomics in the region?
Please note this event will be in-person only, with no virtual joining option.

Living Rare Forum
2023-05-06 | Renaissance Downtown Hotel, Washington DC
Hosted at the Renaissance Downtown Hotel, the rare disease community will come together in Washington DC for a day of learning, networking and fun! Hear real stories from the community and gain practical knowledge to help you live your best life while navigating your rare disease journey.
The living rare forum is your opportunity to connect with others in the rare disease community.
By attending, you will have access to:

Sessions on valuable topics, such as: Finding and Living Your New Normal with a Rare Disease, Drug Development for Rare Diseases, Rare Breakthroughs: Now and On the Horizon, and more.
An opportunity to connect with fellow community members at the Friday welcome reception and Saturday breakfast.
Hot topic discussion lunch tables.
Event swag! Register by April 1st to be guaranteed a t-shirt.

Can’t attend in person? You can also attend virtually!
To book or to learn more about this event, visit their site.

Patient Centricity and Engagement
2023-05-10
29 Industry Leaders From Pharma, Advocacy Groups & Patients Themselves Share Their Latest Insights Into Driving Forward Patient Engagement Through Embedded Partnerships In Just One Day!

Advanced, High-Impact, Value-Adding Strategies For Patient Centricity, Engagement & Partnerships

Drive End-To-End Patient Engagement & Break Through Longstanding Barriers To Patient Centricity – Effectively Collaborate With Advocacy Groups & Stakeholders To Focus Around The Patient & Their Needs – Embed D&I At The Heart Of Engagement Strategies – Deliver High-Impact Patient Experiences & Digital & Virtual Engagement
Website

EDIRA Conference: An Inclusive conference about Inclusion
2023-05-12 - 2023-05-19 | Edira Conference 2023
Theme: Diversity- Dialogue and Development!
In May, the United Nations ‘World Day for Promoting Cultural Diversity for Dialogue and Development’ will be taking place. This day will raise awareness about the essential role that intercultural dialogue has, in bringing positive change. This theme has underpinned the development of the EDIRA conference.
The ultimate aim of the EDIRA project is to co-create an inclusive research framework, which will provide practical guidance for practitioners.
Equality, Diversity and Inclusive Research Association (EDIRA) Conference.
(Greenwich Mean Time: the conference will be held in English).
In person in Cardiff, Wales on 11.30am 12th May 2023.
On-line on 11.30am 19th May 2023. (FREE to members of the Community Network).

In-person event: https://www.eventbrite.co.uk/e/edira-conference-in-person-edira-campaign-launch-party-tickets-521189250077
Online event: https://www.eventbrite.co.uk/e/565518319517

Pint of Science Festival
2023-05-22 07:30 - 21:30
Our Rare Mind and Rare Body events for the International Pint of Science Festival are now live!
Join us for engaging research talks and interactive activities in the pub with leading Cambridge experts on May 22 and 24.
To view the full programme click here

Journal Club: On the 12th Day of Christmas, a statistician said to me...
2023-06-23 15:00 - 17:00 | ONLINE
The month’s leading up to Christmas are a magical time for medical research. The impending holiday season creates a dynamic upsurge in productivity, with researchers finding time to finish off statistical analyses, draft manuscripts and respond to reviewers comments. This activity leads to a plethora of submissions to journals such as The BMJ in December, so that researches can finish the year with a sense of academic achievement and enjoy the festivities with their loves ones.
In this talk, Professor Richard Riley will discuss 12 of the most common issues enountered during a statistical peer review at The BMJ, as identified by a survey of our statistical editors.
The topics will be presented with real examples and the talk is aimed as a broad audience, aiming to shine a Christmas star towards better statistical practice.
You can register for the event Here

Rare @ Manchester - 1st Anniversary Celebration Event
2023-07-19 12:30 - 15:00 | Citylabs 1.0 Nelson Street Manchester M13 9NQ
We are thrilled to invite you to this special event to mark the one-year anniversary of the Manchester Rare Conditions Centre.
This event will highlight the significant strides Manchester has made in improving the lives of individuals with rare conditions.
The aim of this celebration is to showcase the progress the centre has made in the last year, with speakers from our specialist clinical services, our research theme and academy.
Full agenda to be announced.
Due to limited capacity we encourage you to confirm your attendance as soon as possible.

Medicine and Me: Young sudden cardiac death
2023-07-20 13:30 - 18:00 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Medicine and Me meetings aim to provide an outline of current best practice and future updates for important conditions. They give a direct voice to patients and carers, enabling them to discuss their concerns and reflections on the impact of diagnosis, investigation and management. Physicians, surgeons and indeed all healthcare professionals continue to learn from and be inspired to improve care by hearing directly from patients.
In the UK alone, 12 seemingly healthy people under the age of 35 die from undiagnosed cardiac conditions every week, otherwise known as young sudden cardiac death.
Join us for an event, run in association with the charity Cardiac Risk in the Young, to learn about the latest developments in our understanding of the causes and prevention of young sudden cardiac death, and how to ensure the best quality of life for those living with diagnosed cardiac conditions.
Participants will have the opportunity to hear from some of the world’s leading experts in inherited cardiac conditions and ask questions about their experiences providing support and dealing with affected families.
Attend this event to gain an understanding of:

The causes and prevention of young sudden cardiac death
Methods for early identification of high-risk individuals
Providing optimal care for patients with diagnosed cardiac conditions
How to manage and support affected families
Areas where further research is needed

Get your tickets here

Beyond the clinic: Sickle Cell Disease
2023-07-31 17:00 - 18:00 | The Royal Society of Medicine
This webinar continues a new series of webinars that highlights the lived experiences behind genetic conditions. In an effort to highlight experts outside of the medical field the Medical Genetics Section will be using its platform to allow people with lived experience and other stakeholders to provide insight into genetic conditions, that are usually taught from a biomedical perspective.
This meeting focuses on Sickle Cell Disease, the most common rare genetic condition in the UK. Despite this fact people with Sickle Cell Disease still have considerable unmet needs including lack of access to treatment and investment in research. The treatment of patients with Sickle Cell Disease has also made news headlines in recent times due to failings in the health system. In this meeting we will hear from advocates in this area to understand the needs of patients and how we can better serve this community.
We will also hear from contributors to The No-One’s Listening report published by The Sickle Cell Society and The All Party Parliamentary Group for Sickle Cell and Thalassaemia.
This meeting aims to:

Raise awareness of how Sickle Cell Disease impacts families and communities
Highlight the unmet needs of patients living with Sickle Cell Disease
Learn from the outcomes of The No-one’s Listening Report

This is an online event

Living with Uncertainty & Impact of Trauma Mental Wellbeing Webinar
2023-09-06 14:00 - 16:00 | ONLINE
People affected by a rare and undiagnosed condition live with an accumulative impact on their mental wellbeing. Specifically at an individual level, people living with a rare disease (PLWRD) can have an associated mental health co-morbidity, and at a population level, the community live with the increased psychological impact associated with the rare disease journey across all stages of life. Furthermore, the rare disease community has increased exposure to social inequality and discrimination, which are risk factors affecting poor mental wellbeing. The rare disease community has identified the need to look beyond the physiological symptoms of a rare condition, and recognise the importance of psychological support as a fully integrated part of the coordination of care. Without support, there will continue to be a detrimental impact on the mental health of those affected by rare conditions, hindering them from effective participation in society.
This webinar will begin by breaking down the biopsychosocial continuum and addressing the intersectional needs of our community. It will then move on to a panel discussion on living with uncertainty and the impact of trauma, ending with a discussion on the impact of living with congential malformations.
The outcome of the webinar will be the launch of a public call for expressions of interest to join the new EURORDIS Mental Wellbeing Partnership Network, where patient representatives will partner with experts to identify common mental health needs and inform EURORDIS’ strategic and policy action.

Breaking Down Barriers
2023-09-26 09:30 - 16:00 | London
This is the first opportunity for the BDB network to get together in person since lockdown!

26th September 2023 – London

Registration will be from 9:45 am
Start 10:00am
Finish 4:00pm
Lunch will be provided.
Our focus is on bringing the network together, strengthening ties and finding opportunities for collaboration.
Our keynote speakers (to be announced soon) will introduce key changes in the world of genetic services, testing and research.
The workshops are:

Engaging Excluded Communities.
Working together on Patient and Public Involvement and learning from people with lived experience.
Seizing new opportunities in the genetics field

You will have an opportunity to explore two of the above.
The afternoon will include space for us to explore up to three hot topics or challenges. These will be identified by members in attendance.
The workshop will identify challenges for individual member organisations and shared challenges across the network. We will discuss possible solutions, ways to collaborate and explore how BDB can support you and your work.
You can send up to two members of your team to the event but if you would like more people to attend then please get in touch and we can add you to a waiting list. If there are practical challenges to your participation, please do give us a call to discuss them. We will do our best to make the events as accessible to the whole membership as possible. Get in touch with Catherine by email catherine.lewis@alstrom.org.uk to reserve your place today.

WS Conference
2023-09-30 10:00 - 17:00 | Mercure Daventry Court Hotel
You are invited to attend our annual conference on Saturday 30th September 2023, at Mercure Daventry Court Hotel, Sedgemoor Way, Daventry, NN11 0SG 10.00-17.00 (Registration from 9.00 am).
You will have the chance to speak to medical experts from the UK and abroad, as well as the chance to meet other families/individuals affected by WS. There will be workshops as well to take part in. This event is open to anyone affected by or with an interest in Wolfram Syndrome.
For more information or to book your place(s), please go to
http://wolframsyndrome.co.uk/ws-conference/
Email: admin@wolframsyndrome.co.uk
Telephone: 01903 211358
LAST DATE TO BOOK FRIDAY 8TH SEPTEMBER 2023.
The Wolfram Syndrome Global Awareness Day is 1st October 2023. WS groups from around the world will be encouraging their communities to take part in fundraising & the raising of awareness for this condition. More information can be found on the website https://www.globalwsday.org/ .

Annual Lafora Disease Science Symposium
2023-10-09 - 2023-10-10 | Bologna
Lafora disease researchers and clinicians at Instituto delle Scienze Neurologiche di Bologna (ISNB) IRCCS will host the 8th Annual Lafora Disease Science Symposium in Bologna, Italy from October 9-10, 2023.
Chelsea’s Hope is hosting registration. Please register individually to attend the in-person Symposium. If you can’t make it in person, we encourage you to register and indicate your interest in receiving the recordings after the conference.

CamRare's RAREsummit23
2023-10-12 09:00 - 17:30
A platform for change
CamRARE’s RAREsummit23 welcomes and unites patients, advocates, experts and leaders to address the challenges faced by people affected by rare diseases. By reflecting on progress made, showcasing best practices and new developments, sharing knowledge and experience, and finding ways to work together, the journey towards better diagnosis, treatment and support for patients and their families is smoother and more certain.
On Thursday 12 October 2023, we will gather at the Wellcome Genome Campus for our 6th RAREsummit – a flagship CamRARE event gathering 300 great minds in rare diseases to make connections, exchange ideas and openly debate possibilities.
“RAREsummit has turned my growing curiosity in Rare Diseases into a reality. I was both able to connect with some amazing people and be inspired by the passion and activity going on throughout this community.”
Through RAREsummit23, we aim:

to raise awareness of rare conditions and their impact
to showcase exemplars of impactful collaboration between stakeholders, with patients at the heart
to bring all stakeholders in rare diseases together as equals to drive patient group, researcher and industry partnering opportunities
to give stakeholders the knowledge and skills to ensure their practices involve patients and their advocates as essential partners
to improve the lives of rare disease patients by working together with greater efficiency, collaboration and success

Why attend? Learn something new, be inspired, meet people, add value, collaborate.

Build your network with 300 biotechnology, pharma and startup leaders, innovators, patients and patient group CEOs, healthcare professionals, policy-makers, CROs, researchers, investors and students assembled.
Meet, mingle and hold crucial discussions with potential partners from local and global arenas.
Take away practical strategies and fresh ideas.
Participate in interactive workshops and Dragon’s Den style tech solutions sessions as an innovator or an audience ‘judge’.
Hear from and put questions to key opinion leaders from the patient, scientific, industry, medical, and policy sectors.

Themes will include:

Progress in diagnostics – where are we now? What does the future hold? Exploring a broad range of diagnostic tools and strategies
Young Voices – have we listened? Does the Rare Disease Framework reflect what young people want and need?
Rare researchers’ poster and pitch – showcasing novel academic and translational research, the bedrock of better understanding.
Exploring funding challenges and opportunities for this vital research
Can we fix the everyday challenges of rare patients with technology? In collaboration with Eastern Academic Health Science Network – a live Dragon’s Den Tech solution pitching session.
Turning the research paradigm on its head. Showcasing patient-led research.
Gene therapies – where are we now and what does the future hold?
Practical workshops – themes emerging …get in touch if you have a proposal or a wishlist!
Networking, Patient Journey and research poster gallery, exhibits

Book now!

The BHD Symposium
2023-10-13 - 2023-10-14 | Wellcome Collection 183 Euston Road London NW1 2BE
We are delighted to be hosting our first hybrid BHD Symposium on 13 and 14 October 2023 in London, UK, and online.
This is the first time we will be bringing together the whole BHD research community in person since 2015. The event will showcase the current research into BHD and folliculin and we hope it will provide a space for new collaborations to accelerate future research.
This year’s symposium is a hybrid event with the aim to reach as many people across the world as possible. You can book tickets to join us either online or in person in London, UK.
Email us with any questions at bhdsymposia@myrovlytistrust.org

Glasgow Paediatric Research Day
2023-11-03
Colleagues are warmly invited to attend the 2023 Glasgow Paediatric Research Day to be held on Friday 3rd November at the Teaching and Learning Centre, Queen Elizabeth University Hospital Campus.
The programme will feature an invited speakers’ plenary session on “Successes and Challenges of Genomic Medicine”, hosted by Dr Ruth McGowan, Consultant Clinical Geneticist, Royal Hospital for Children, Glasgow. Abstract submissions on aspects of research in paediatrics / women & children’s health, are welcomed from undergraduate & postgraduate students, early career researchers and clinicians and allied health professionals.
Registration and Abstraction Submission now open: Register with eventbrite Submit an abstract
If you have any queries on this event, please contact Karen.Cooper@glasgow.ac.uk.

London Rare Disease Showcase 2023
2023-11-27 09:00 - 17:00 | America Square Conference Centre, 17 America Square, London, EC3N 2LB, United Kingdom
The London Rare Disease Showcase aims to shed light on the latest innovations and advancements occurring in the field of rare diseases, with special emphasis on the vibrant rare disease landscape in the UK’s capital.
Through a series of captivating talks and presentations, experts and thought leaders from various disciplines will share their insights, experiences and success stories.
This highly anticipated event provides a unique opportunity for attendees to engage in meaningful discussions, exchange knowledge, and foster collaborations.
By bringing together diverse perspectives and expertise, we can accelerate progress and find innovative solutions to the challenges faced by the rare disease community. Whether you are a patient, caregiver, researcher, industry professional, or healthcare provider, your presence and participation are vital to driving positive change.

Building NHS healthcare professional awareness resources
2024-01-26 14:00 - 15:30 | ONLINE
Come along to learn more about how your voice can help healthcare professionals learn about rare disease. You will be joined by Kate Tatton-Brown and Alison Pope, Clinical Directors at NHS England, as they present the Genomics Education Programme and why it’s important.
Please find the link to the zoom webinar here: https://us06web.zoom.us/j/84487083787
We would greatly value your participation and would very much appreciate if you could let us know by Friday 5th January if you accept this invitation.
If you have any questions, please do not hesitate to contact Nadine at nadine@m4rd.org

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.

The Unusual Suspects: Rare Disease in Everyday Medicine 2024
2024-02-21 12:00 - 18:00 | The Royal Society of Medicine
The aim of the meeting is to inform doctors that rare diseases are collectively common and relevant to every medical career. Very different rare diseases face similar challenges, including navigating healthcare which can be alleviated by a medical profession that understands what living with a rare disease means to a patient and their larger community.
The focus for this year’s event will be communication and inclusivity in rare disease. The majority of people living with rare conditions will never receive a disease-modifying treatment or benefit from a specialist service. Often a system built on evidence-based medicine doesn’t work for patients who have little evidence about their condition. This can leave their clinicians feeling helpless and the patient feeling isolated.
This session will help participants build on their listening and communication skills for the benefit of people living with untreatable long-term conditions.
The speakers confirmed for the event are:
▪ Dr Lisa Kauffmann, Consultant community paediatrician & Associate Medical Director at children’s community health services, Manchester Local Care Organisation
▪ Jono Lancaster, Author of ‘Not All Heroes Wear Capes’
▪ Hope Russell-Winter, Ambassador for M4RD and Runner-up on The Voice UK
▪ Kevin Ward, NHS Healthcare Improvement Scotland WMTY movement
▪Kerry Leeson, CEO, Breaking Down Barriers
▪Aisha Seedat, M4RD Patient Ambassador and her sister Saffiya Seedat who is an ardent advocate for individuals with rare diseases
▪Leisha Devisetti – The winner of the Student Voice Prize 2023
