Medics For Rare Disease

Advances in renal genetics
2022-12-08 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Attend this meeting for a comprehensive update on the clinical management of genetic and inherited kidney diseases, including cystic and basement membrane disorders, podocytopathies and tubulopathies, in both children and adults.
We will review the evolution of new genomic methodologies, including how they are informing our knowledge of kidney disease pathogenesis and outcomes, and their potential impact on patient care in the future.
Aims of the event include:

To describe recent developments in the management of inherited kidney diseases
To consider the present and future impacts of novel genomic approaches in nephrology
To explore the development of local and national genetic services in the NHS

Book to attend this event in person or virtually. To view the rates and agenda, please select your preference below.

RAREfest22: Educate, Engage, Empower
2022-11-26 | The Guildhall, Market Square, Cambridge, CB2 3QB
FREE to attend, RAREfest22 is a public-facing, rare disease inspired festival featuring interactive talks, demos and exhibits, film and art showcasing ground-breaking science, visionary technology and pioneering organisations improving lives and bringing hope to those living with rare conditions.
An award-winning festival that is as UNIQUE as the patients it champions. Featuring the brightest minds in rare disease research, the innovators of life-changing tech, the pioneers in rare disease medicine, and the patients whose powerful voices must be heard. For the experts. For the curious. For everyone. For FREE.
Cambridge Rare Disease Network is a platform for change. It is the infrastructure that unites patients, advocates, experts and leaders to address the challenges faced by people affected by rare diseases. By sharing knowledge and experience, and working together, the journey toward s better diagnosis, treatment and support for patients and their families is smoother and more certain.
Book now

Get Started with Genomics CPD Course
2022-11-24 - 2022-11-25 | University of Exeter, St Luke's Campus, Heavitree Road, Exeter, EX1 2LU, United Kingdom
The implementation of next-generation sequencing technologies has enabled genomics to become a mainstream subject in medicine. The UK has now adopted Whole Genome Sequencing (WGS) in clinical practice, and the use of genomic sequencing technologies in healthcare has become widespread across many countries. Healthcare professionals across the world need the skills to understand genomics and what it means for their patients.
This course will provide participants with the basic principles of genomic medicine. The content will include the distinction between genetics and genomics and a focus on understanding the different modes of inheritance. With a focus on practical case studies and a workshop-style of delivery, the course will offer the opportunity to engage with academics and fellow participants and build collaborative networks.
Course Leads
Professor Anna Murray – Associate Professor in Human Genetics
Dr Julia Baptista – Lecturer in Clinical Education
See the Speakers page for the full faculty list.
Delivery Dates and Format
The course will be delivered on 24th and 25th Nov 2022 in a hybrid format (virtually and in-person at the University of Exeter)
Who is it for?
The course is aimed at clinicians and other healthcare professionals who need an introductory course in genomics. This course would be an ideal access course for those wishing to pursue further studies, in particular the MSc in Genomic Medicine.
Learning Outcomes
At the end of the course the learner will be expected to be able to:

Define the key concepts of genetics and genomics
Understand the main approaches to genomic testing and principles of variant classification
Understand the main modes of inheritance in humans (autosomal dominant, autosomal recessive, X-linked, and mitochondrial) and recognise their characteristic features and patterns
Understand that genetic disorders might be inherited from an affected parent, an unaffected parent, both unaffected parents or arise spontaneously
Apply the knowledge of mode of inheritance in the context of a clinical report and the given family scenario
Become familiar with the basics of genome browsers to view gene information and interpret genomic information in clinical reports

Certificate and Accreditation
Participants will receive a certificate of participation including both CPD points applied for through the Royal College of Physicians and learning outcomes, which can be used towards your own professional development.
For more details about the course including fees and delivery see the course details page.

Understanding ME/CFS, symptom crossover with hEDS/HSD and implications for Long Covid
2022-11-18 09:00 - 12:00 (Europe/London) | LIVE STREAM
Dr Sue Pemberton PhD is a qualified occupational therapist who was involved in setting up the Leeds based Chronic Fatigue Syndrome Service in 1990, one of the first NHS clinics specifically for the condition. She wrote the original therapy programme and worked clinically with the service for over 22 years, in addition to holding a number of management positions within the NHS.
Sue has co-authored the self-help manual Fighting Fatigue: a practical guide to managing the symptoms of CFS/ME, Hammersmith Press and contributed to the British Association for CFS/ME Therapists Manual.
Sue will explore the implications of Chronic Fatigue Syndrome and Long Covid

Patient partnerships: Improving healthcare equality from pandemic to endemic
2022-10-29 13:00 - 16:00 | LIVE STREAM
The purpose of this event is to promote partnerships between patients and the medical profession to pave the way for a better, more inclusive healthcare system as we rebuild after the pandemic. By strengthening this relationship, we aim to ensure patients never feel isolated when they are at their most vulnerable. We will discuss real-life examples of partnerships and their successes.
There will be a series of presentations and workshops by students and experienced professionals on non-technical aspects of medical practice, such as political challenges with the public health service and humanitarian values. The event will end with a prize-giving ceremony for the Dr Edwin Doubleday essay award, which funds medical students aspiring to improve the relationship between patients and the medical profession.
Aims of the event:

To highlight the role and importance of patient partnerships
To educate the medics of tomorrow about non-technical aspects of practice
To inspire attendees to improve the relationship between patients and the medical profession
To give attendees the chance to improve their presentation and networking skills

This event is run in association with the University of Manchester Doubleday Centre and the Doubleday Medical Schools Patient Partnership Collaboration.
Students are invited to submit an essay using this link below to enter the Doubleday Student Prize.

Hypermobility spectrum disorders(HSD) and Hypermobile Ehlers-Danlos syndrome (hED)
2022-10-21 09:00 - 13:00 | LIVE STREAM
Training for Health Professionals on hypermobility spectrum disorders(HSD) and Hypermobile Ehlers-Danlos syndrome (hEDS)
The online course includes presentations and interactive case-based sessions for Health Professionals and those who wish to gain further knowledge and advance their clinical practice in assessing and management children and adults with Hypermobility Spectrum Disorders, Hypermobile Ehlers Danlos Syndromes and associated conditions.

Young People’s Genomics Café
2022-10-20 18:00 - 19:30 | LIVE STREAM
Are you a young person interested in finding out more about genomics and health, or affected by a rare or genetic condition?
Chromosomes!
Dr Andrew Fry, Clinical Senior Lecturer in Medical Genetics, Cardiff University
An Introduction to Pharmacogenomics
Sophie Harding, Pharmacogenomics Lead, Royal Pharmaceutical Society of GB
Medics4Rare Diseases
Lucy McKay, CEO Medics4RareDiseases
Everyone is welcome to this FREE online event.
Register for Virtual Café: https://tinyurl.com/34ehzs74

Innovation Bootcamp in Rare Diseases 2022
2022-10-11 | Maison de la Poste, Rue Picard 5/7, Brussels, 1000, Belgium
The third edition of the Innovation Bootcamp in Rare Diseases (IBRD2022) congress in Brussel will be held on October 11th 2022.
The target audience of this event includes all professionals involved in the prevention, treatment and diagnosis of rare diseases and orphan drug research and development, including researchers, clinicians, pharma, policy makers and patient representatives.
For more information email Marc Dooms.

Drug Repurposing for Rare Diseases 2022
2022-10-10 | America Square Conference Centre, 17 America Square, London, EC3N 2LB, United Kingdom
We are delighted to announce Beacon’s ninth annual Drug Repurposing for Rare Diseases Conference and, for the first time since 2020, it’s returning live and in-person!
This annual conference, Drug Repurposing for Rare Diseases, highlights the role that drug repurposing can play in lowering the cost and accelerating the development of rare disease treatments.
An event unique in its collaborative and multi-stakeholder focus, we bring patient groups, researchers and industry professionals together to showcase excellent examples of rare repurposing.
Drug Repurposing for Rare Diseases sparks cross-sector conversation, uniting the expertise of diverse groups to inspire meaningful, patient-centred drug repurposing research for rare diseases.
Click here for more details

BBS UK Annual Conference 2022
2022-09-09 - 2022-09-11 | Hilton Hotel, Northampton, 100 Watering Lane, Collingtree, NN4 0XW, United Kingdom
This highly-anticipated event provides the unique opportunity to learn about the latest research, treatments, and day to day management of BBS, network with like-minded professionals and more importantly, learn from those living with Bardet-Biedl syndrome.
The programme is still being finalised but will include:
* Invaluable personal perspectives of living with BBS
* An Update on Research and Understanding of BBS from Professor Phil Beales
* The BBS Registry: Dr Elizabeth Forsythe
* An update on behavioural research and health and wellbeing research in BBS from Dr Emma McGibbon and Dr Jane Waite
* Guide Dogs UK: Overview of services
It is hoped to have the event CPD accredited and the cost is just £40 for professionals, which includes refreshments and a luxury buffet lunch.
For more information please go to https://bbsuk.org.uk/news-events/bbs-uk-conference/
The professionals booking form can be found here

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.

Facing up to the genomic gap: Tackling equality and diversity in genomics on
2022-07-07 17:30 - 18:30 | LIVE STREAM
This webinar is part of the popular Genetics of webinar series and will discuss the challenge of equality and diversity in genomic research and clinical settings and strategies to address this.
Genomic research has traditionally been focused on caucasian populations, which leads to inherent biases in genomic findings translated into clinical research. Underrepresentation of other populations in genomic datasets and biobanking endeavours leads to genomic medicine services being underutilized and inaccessible to these communities.
During this webinar you will:

Understand that genomic data is under-representative of many minority populations which has a direct impact on genomic research
Develop an idea of how the scientific community is trying to address this issue
Appreciate the challenges of ensuring that diverse communities are able to access the genomic medicine service
Describe strategies that are being undertaken to try and improve genomic testing provision within diverse communities

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.

Hypermobility syndrome: A practical guide to assessment, management and care
2022-06-17 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Join the RSM at this multidisciplinary event which will provide a valuable overview and a broader understanding of hypermobility syndrome and the care of these patients.
Experts in their field will present a series of talks that will inform delegates about practical guides for the assessment and management of this condition and will explore how community care can make a difference.
Key speakers include: Professor Lara Bloom, Academic Affiliate Professor of Practice in Patient Engagement and Global Collaboration, Penn State College of Medicine and CEO of The Ehlers-Danlos Society, Dr James Kustow, Consultant Psychiatrist and Medical Director, The Groves, Dr Jane Simmonds, Co-deputy Director of Education and MSc Advanced Paediatric Physiotherapist, and many more.

Book in-person event here
Book live stream here

The genetics of intellectual disability: Episode 15
2022-06-13 17:30 - 18:30 | LIVE STREAM
This webinar is part of the popular Genetics of webinar series and will provide an interesting update on the genetic origins of intellectual disability, as well as explore what challenges remain in this area.
Our speakers will explore what research is required after a genetic diagnosis of intellectual disability and what families would value the most from the diagnostic experience. This webinar is also a special chance to discuss what the experience of receiving a genetic diagnosis is like for patients and their families.
During this webinar you will:

Understand what we do know about the genetic origin of intellectual disabilities
Appreciate the challenges and opportunities in research in this field
Recognise how post-diagnostic research is important in order to understand the different ways people experience intellectual disability
Value the insights gained from those who have received a genetic diagnosis of intellectual disability

This meeting is in association with the RSM Intellectual Disability Section.
The genetics of… series has been developed following feedback from delegates. Presented by the Medical Genetics section of the Royal Society of Medicine, this series of talks will focus on the role of genetics in different areas of health and wellbeing.

Understanding Rare Disease: Communicating with Patients
2022-06-08 14:00 - 15:30
Sign up to learn about the role of communication in rare disease from those affected directly, in an interactive FREE virtual event!
About this event
The event will kick off with a session from our guest speaker, who will explore the value of effective and sensitive communication skills when it comes to handling complex conditions, such as rare disease. Attendees will then have the chance to speak directly with some of the I am Number 17 campaign changemakers and hear first-hand about how their diagnostic odysseys came to an end, through perseverance and working together with the help of their HCP/Consultants.
What will you get from attending this event?
• Gain experience from communicating directly with those affected by rare disease
• Improve your understanding of rare disease and how to react when faced with a potential rare disease
• Develop your communication skills (notability how to share sensitive information and break bad news)
• Gain a certificate of attendance to exhibit your enhanced learning
We hope that learning from real-life examples will provide you with tangible learnings to take along your medical careers and ultimately equip you to Find the 1 in 17 in the future…
All medical students are welcome to attend the event!
Please note this event may be beneficial for students preparing for upcoming OSCE examinations.
We look forward to seeing you there and learning together!
This event is initiated and funded by Takeda UK, run together with Medics4RareDisease.

Online workshop: Understanding access and reimbursement
2022-05-17 - 2022-05-19 | ONLINE
Getting wider access to drugs for as many patients a possible is a clear priority in the drug development process, especially for patient groups who are working to secure research into and treatments for their rare conditions.
However, understanding how to secure access to newly developed treatments is an often-neglected challenge. The processes involved in securing reimbursement can be intimidating to patient groups and act as a real barrier to engagement.
This workshop will outline the basics of access and reimbursement: what it means, when it happens, and who is involved. It will also explore the key ways in which patient groups can contribute to the process and what should they be prepared for. Attendees will leave feeling more confident in what the access and reimbursement process involves and where they can add value.
Day one: Access and reimbursement 101, back to basics
Day two: Understanding the NICE appraisal process
Day three: where can patient groups get involved?

Curing with Kindness: Rare Childhood Brain Tumours (Pint of Science)
2022-05-10 19:30 - 21:30 | Espresso Library, 210 East Road, Cambridge, Cambridgeshire, CB1 1BG, United Kingdom
Researchers developing new treatments for children with rare brain tumours know that it’s not a case of treating children like tiny adults and that surviving the disease isn’t enough.
Reducing the damage done by treatments is just as important to the survivor. Discover how researchers are minimising damage and why they think studying rare children’s tumours is vital to our wider understanding.

Are rare tumours worth studying? with Sigourney Bell
Why is it important that we study paediatric tumours and how are they different to adult cancers? What does the future look like for rare paediatric brain tumours and how can we work towards a better future for these children?
Curing with Kindness – New therapies for curable rare brain tumours with Dr Jessica Taylor
I work at CRUK Cambridge Institute finding new therapies for children with a rare, yet curable brain tumour. However, a cure isn’t enough for these children. After surgery, radiation and aggressive chemotherapy mean that they suffer from a multitude of different side-effects, both short-term and long lasting. We aim to find cures that focus not only on surviving cancer, but on the survivor.

Not All Genes are Equal (Pint of Science)
2022-05-09 19:30 - 21:30 | Espresso Library, 210 East Road, Cambridge, Cambridgeshire, CB1 1BG, United Kingdom
Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of them are slightly different. These tiny differences contribute to each person’s unique physical features.
Let’s explore rare imprinted genes, a special class where one parental copy is switched off, and the life long impact that can have, and consider what happens when your genes make you slightly more hungry all of the time.

Is obesity a choice? Led by Dr Giles Yeo
It is clear that the cause of obesity is a result of eating more than you burn. It is physics. What is more complex to answer is why some people eat more than others? Differences in our genetic make-up mean some of us are slightly more hungry all the time and so eat more than others. In contrast to the prevailing view, obesity is not a choice. People with obesity are not bad or lazy; rather, they are fighting their biology.
A genetic battle of the sexes and rare imprinting disorders. Led by Dr Miguel Constância
Imprinted genes are a special class of genes because one of the two parental copies is silenced by epigenetic mechanisms during development. These genes have key roles in how we acquire resources in the womb and throughout life.
Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA sequence.
In this talk we’ll explore what happens when the only active copy of imprinted genes is deleted, mutated or silenced due to epigenetics and what happens if the silent copy of imprinted genes becomes activated.

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.

Genomics England Research Summit 2022
2022-05-04 | Business Design Centre, 52 Upper Street, London, N1 0QH, United Kingdom
The Summit is an exciting one-day event that explores the latest research and technology innovations from Genomics England, partners and complementary fields.
Through talks, panel discussions, posters and exhibitions across four themes, you can take part in a valuable programme tailored to your areas of interest. Make connections, learn new skills and help to shape the next steps in strengthening the ecosystem that’s turning science into healthcare for everyone.
The Summit is both virtual and in-person, held at the Business Design Centre in Islington, London, easily accessed from King’s Cross and St Pancras International stations.

Beyond the Student Voice Prize: Continuing your involvement in rare disease
2022-02-28 18:30 - 20:00 | ONLINE
Learn how you can further your interest and get more involved in the world of rare diseases to benefit both yourself and the rare community

The Student Voice Prize is delighted to invite you to our 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 further involved.
The event will be an informal opportunity for you to meet new people and share your experiences of the rare disease community and entering the Student Voice Prize. You’ll also learn how you can build on your current knowledge to drive your personal and professional development whilst helping those in the rare disease community.
Who is this event for?

Previous 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.

Lessons learned from the COVID-19 pandemic: Looking to the future with The UK Rare Diseases Framework
2022-02-22 18:00 - 20:30 | ONLINE
Jointly organised with ARDEnt, this webinar will discuss the recommendations the ARDEnt team is using to help inform how the UK is going to deliver its objectives set out in the UK Rare Diseases Framework, published in January 2021.
The webinar panel includes members of ARDEnt and those responsible for overseeing the impact of the Framework in the UK.
Read about these recommendations in the Making The Unseen Seen: Rare disease and lessons learned from the pandemic report to find out more on this episode, the series, and the ARDEnt Team’s research.
CPD learning applied.
This webinar is part of the ‘Lessons learned from the COVID-19 pandemic’ series, a series that will cover all themes outlined in the Making The Unseen Seen report, from diagnostic delay in episode 1 to health and social care in episode 2, clinical trials and drug development in episode 3, and concluding with the UK Rare Diseases Framework and action plans in episode 4.
This webinar is available for on-demand viewing. The webinar recording will be available for registered delegates up to 30 days after the live webinar broadcast via Zoom. The link will be sent 24 hours after the webinar takes place.

Lessons learned from the COVID-19 pandemic: Clinical trials and drug development in rare disease
2022-02-15 18:00 - 20:30 | ONLINE
This episode refers to theme 3 in the Making The Unseen Seen: Rare disease and lessons learned from the pandemic report and will discuss how safety considerations, travel restrictions, shielding, trial-sites being repurposed to COVID-19 wards, research staff either being called to the front- line or called to replace others who were, have compounded the already fragile world of clinical development for rare diseases.
Read Making The Unseen Seen: Rare disease and lessons learned from the pandemic report to find out more on this episode, the series, and the ARDEnt Team’s research.
CPD learning applied.
This webinar is part of the ‘Lessons learned from the COVID-19 pandemic’ series, a series that will cover all themes outlined in the Making The Unseen Seen report, from diagnostic delay in episode 1 to health and social care in episode 2, clinical trials and drug development in episode 3, and concluding with the UK Rare Diseases Framework and action plans in episode 4.
This webinar is available for on-demand viewing. The webinar recording will be available for registered delegates up to 30 days after the live webinar broadcast via Zoom. The link will be sent 24 hours after the webinar takes place.

The Unusual Suspects: rare disease in everyday medicine
2022-02-09 18:00 - 20:00 | LIVE STREAM
The Unusual Suspects: Rare disease in everyday medicine is returning to The Royal Society of Medicine on 9th February!
The M4RD Annual Symposium has been a popular event in the rare disease calendar for many years, allowing healthcare professionals at all levels, trainees and students to come together to learn more about the importance of understanding rare diseases as a whole, with a large focus on improving awareness and management.
Following the success of last year’s online event, we will be live streaming from 1 Wimpole Street.
This is the only medical meeting of its type in the UK that brings together stakeholders from across all sectors and rare diseases in order to teach those who don’t yet know much about rare disease.We will be hearing from patients, parents, advocates and clinicians.
BOOK NOW

Lessons learned from the COVID-19 pandemic: Rare disease health and social care coordination
2022-02-08 18:30 - 20:00 | ONLINE
During times of global disruption, it is often those who are already disadvantaged that are disproportionately affected. Theme 2 of the ARDEnt report highlights this impact on those with rare conditions.
Jointly organised with ARDEnt, this webinar will examine how the reduction to healthcare, social services and SEND (special educational needs and disabilities) education has had a devastating impact that will be felt long after COVID-19 restrictions are lifted.
As the world begins to find its new normal we must ensure we are “making the unseen seen”.
Read Making The Unseen Seen: Rare disease and lessons learned from the pandemic report to find out more on this episode, the series, and the ARDEnt Team’s research.
CPD learning applied.
This webinar is part of the ‘Lessons learned from the COVID-19 pandemic’ series, a series that will cover all themes outlined in the Making The Unseen Seen report, from diagnostic delay in episode 1, to health and social care in episode 2, clinical trials and drug development in episode 3, and concluding with the UK Rare Diseases Framework and action plans in episode 4.
This webinar is available for on-demand viewing. The webinar recording will be available for registered delegates up to 30 days after the live webinar broadcast via Zoom. The link will be sent 24 hours after the webinar takes place.

Lessons learned from the COVID-19 pandemic: Diagnostic delay in rare disease
2022-02-01 18:30 - 20:00 | ONLINE
This time last year it became clear to the rare disease community that the COVID-19 pandemic was having a disproportionate and often devastating effect on all aspects of the lives of those living with rare conditions.
To remediate this, a large group of UK-based and cross-sector stakeholders, known as ARDEnt, assembled to ensure the capture and analysis of what was truly happening to the fragile rare disease infrastructure.
Jointly organised with ARDEnt, this webinar will examine how the diagnostic process in rare diseases was affected by the response to the COVID-19 pandemic.
The journey to a rare diagnosis is already recognised as a long and arduous process and has been coined the ‘Diagnostic Odyssey’. The ARDEnt team found that diagnostic delay has been further exacerbated during the pandemic and the consequences of this will be felt for years to come as the population of people living with an undiagnosed rare disease will have grown bigger in 2020.
Read Making The Unseen Seen: Rare disease and lessons learned from the pandemic report to find out more on this episode, the series, and the ARDEnt Team’s research.
CPD learning applied.
This webinar is part of the ‘Lessons learned from the COVID-19 pandemic’ series, a series that will cover all themes outlined in the Making The Unseen Seen report, from diagnostic delay in episode 1, to health and social care in episode 2, clinical trials and drug development in episode 3, and concluding with the UK Rare Diseases Framework and action plans in episode 4.
This webinar is available for on-demand viewing. The webinar recording will be available for registered delegates up to 30 days after the live webinar broadcast via Zoom. The link will be sent 24 hours after the webinar takes place.

The International Rare Disease Showcase
2022-02-01 - 2022-02-03 | ONLINE
The International Rare Disease Showcase is a virtual event like no other, bringing everyone together including, patient groups, researchers, medical professionals, industry representatives and of course patients themselves.
Here’s what to expect:

Three days of interactive sessions led by global experts and advocates
Conversations on policy, patient advocacy, access and approval, new technologies, research and data collection with an international focus!
Panel discussions and breakout rooms where attendees will be able to interact with speakers and other attendees
A worldwide, diverse and multi-stakeholder audience
Patient group and industry virtual exhibition booths and dedicated patient group poster zone
All material will be available to view on-demand for 21 days after the event

Maximising engagement with healthcare professionals
2021-12-14 11:00 - 12:30
Join this webinar to explore the practical things patient groups can do to make sure they are engaging with HCPs in the most beneficial way.
Most rare diseases are not concentrated in one area or country and do not affect one singular body system, which makes finding healthcare professionals (HCPs) or specialists who understand them a real challenge for patients and patient organisations. Yet, it is often a top strategic priority for patient organisations to find and engage with these professionals to drive faster diagnoses, better understanding of and research into rare conditions.
This can be a real challenge when most HCPs have a very limited knowledge of rare conditions. HCPs often look straight to google for their research where they can be met with misinformation and do not always find the patient organisations that are the real experts straight away. Thus, it falls onto the shoulders of these patient organisations to make themselves more visible and receptive to engagement with healthcare professionals. Whether at a basic operational level, an organisational level, through external collaborations or even by working with the organisations such as the NHS and NICE.

This webinar will:

Explore the different levels on which patient organisations can base their engagement with medical professionals
Cover the practical things patients can do (no matter what size or capacity) to engage efficiently and sustainably with HCPs
Highlight case studies from across the rare space of what different patient groups are doing

Please note: This is the first in a series of two webinars which will explore engagement with HCPs.

Diagnosis and Management of Rare Diseases
2021-12-08 19:00 - 20:30 | ONLINE
This FREE live 90-minute webinar will focus on the diagnosis and management of rare diseases, in particular haematological conditions.
The fundamentals of a rare disease – what is it? Who is affected? What’s impact and challenges when a condition is rare? What do rare conditions have in common? How can clinicians seek help, advice and alleviate some of the burden of rarity. The webinar will focus on both generic issues relevant to patients and clinicians and also a detailed look at some example haematological conditions. The webinar will include practical examples and case based discussions.
Learning Outcomes:

Appreciate that rare conditions can impact patients in similar ways
How to approach potential rare diseases from a primary care viewpoint
Relevance of rare diseases to your clinical practice, how you might recognise them and when to ask for advice/refer
Specific haematological learning for example in sickle cell disease and haemophilia
Identify resources that can support you and your patient

There will be plenty of time in this webinar for Q&A.
Speakers will include:
Dr Lucy McKay, CEO of Medics4RareDiseases
Dr William Evans, Chairman NPUK
Mrs Karen Harrison, Alex The Leukodystrophy Charity
