About this event

  • Date and time Tue 22 Feb 2022 from 6:30pm to 8:00pm
  • Location Online
  • Organised by Medicine and Me, Action for Rare Disease Empowerment (ARDEnt)

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. 

Join in the conversation online #RSMLive, #UnseenSeen
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About ARDEnt

Action for Rare Disease Empowerment is an open group of stakeholders from across different sectors who all have a passion for bettering the lives of those living with rare conditions. The three founding organisations of ARDEnt are
Medics4RareDiseases, Cambridge Rare Disease Network and Rare Revolution Magazine, however over 30 individuals and groups were involved in the creation of the ‘Making The Unseen Seen’ report, and the group welcomes new participants and contributors at any time. Although currently, the focus of ARDEnt has been around the pandemic the group hope that this open collaboration sets the template for future activities. Rare is stronger together. If you would like to be involved please do not hesitate to contact any of the Theme Leads from the Cambridge Rare Disease Network.

About Medicine and Me

Medicine and Me meetings aim to provide an outline of current best practices, future updates of important conditions, and give a direct voice to patients and their carers and enable 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 greater efforts to improve care by hearing directly from patients.

We would like to thank our anonymous donor for their generous support enabling this platform for patient focused charities and free access to the Medicine and Me programme.

Key speakers

Dr Kath Bainbridge

Head of Genomics Science and Emerging Technologies, Department for Health and Social Care, National Institute for Health Research

Speaker's biography

Dr Kath Bainbridge is the Head of the Genomics Science and Emerging Technologies Team at the Department of Health and Social Care. The team has responsibility for policy on rare diseases, including the UK Rare Diseases Framework. The team is currently working on England’s Rare Diseases Action Plan, which will transform the Framework into specific and measurable actions and is being developed in close collaboration with the rare diseases’ community. Kath has a PhD in genetics and worked as a research scientist before joining the civil service. She has worked in science and policy roles across several government departments and in scrutiny roles for Parliament and the Independent Commission for Aid Impact.

Arti Patel

Arti Patel

Information Officer, Unique – Understanding Chromosome & Gene Disorders

Speaker's biography

Arti joined the Unique team in August 2015 as an Information Officer. Her main role is to answer queries from new and existing family members and professionals, to provide information about specific rare chromosome and single-gene disorders and to help match up families on the basis of their rare chromosome or gene disorder, symptoms or treatments. She also manages the production of the Unique magazine and Unique’s social media pages. Arti attained a postgraduate diploma in Genomic Medicine from St George’s University in 2020. 

Arti has Treacher Collins Syndrome (TCS) – a rare genetic condition caused by a single gene variant. As a result of her TCS, she also has bilateral moderate conductive hearing loss and wears a bone conduction hearing aid.

Dr Sondra Butterworth

Chief Executive Officer, RareQoL and Founder, #WhoseVoice Campaign

Speaker's biography

Dr Sondra Butterworth began her professional career in nursing. She then moved into education, psychology, and finally research. These skills, combined with the learning from her PhD studies, led her to become the founder of RareQoL. This is a social enterprise based in north Wales. 

Sondra’s PhD thesis was based on exploring the relationship between quality of life (QOL) and social support. This was a mixed method case study of adults living with rare genetic skin conditions. The study concluded that health and social care practitioners, policymakers and commissioners have to make room for QOL perspectives that come from the patient. These are wounded storytellers whose narratives are subjective but are spoken through illness. Sondra has found that the intersecting relationship between the personal characteristics of patients creates challenging lived experiences and often leads to health inequalities. Their collective experiences can influence the direction of their diagnostic journey and must be front and centre of any rare disease implementation plans in a post COVID era.  

Sondra promotes the use of creative approaches to research, which has focused on inclusive research with a diverse community and public involvement. Her work has led her to values that are based on the principles of community psychology, empowerment, inclusion, and interactive bio-psycho-social models of care and support. 


View the programme

Welcome and introduction: A summary of the ARDent findings and recommendations

Dr Lucy McKay, Chief Executive Officer, Medics4RareDiseases and Organising Committee Member, Action for Rare Disease Empowerment (ARDEnt)

The UK Rare Diseases Framework and building on the ARDent recommendations

Dr Kath Bainbridge, Head of Genomics Science and Emerging Technologies, Department for Health and Social Care, National Institute for Health Research

Turning advocacy into action plans

Natalie Frankish, Policy and Engagement Manager for Scotland, Genetic Alliance UK

Harnessing the power of patient groups

Arti Patel, Information Officer, Unique – Understanding Chromosome and Gene Disorders

Dr Lara Menzies, Clinical Geneticist, Great Ormond Street Hospital

Who's missing from the conversation #whosvoice

Dr Sondra Butterworth, Chief Executive Officer, RareQoL and Founder, #WhoseVoice Campaign

Panel discussion

Dr Lucy Mckay, Dr Kath Bainbridge, Natalie Frankish, Dr Sondra Butterworth, Arti Patel and Dr Lara Menzies

Closing remarks and close of meeting



Disclaimer: All views expressed in this webinar are of the speakers themselves and not of the RSM nor the speaker's organisations. 

Special rates for difficult times
The RSM wishes to offer healthcare professionals continued learning opportunities during the coronavirus pandemic. The RSM’s weekly COVID-19 Series webinars remain free of charge, while there will be small charges to register for other online education. These fees will enable the RSM to continue its programme of activities and will apply during the course of the pandemic.

Registration for this webinar will close 2 hours prior to the start time. You will receive the webinar link 2 hours before the meeting. Late registrations will not be accepted.

This webinar will be available for registered delegates 30 days after on Zoom. The link will be sent 24 hours after the webinar takes place. 

This webinar will be recorded and stored by the Royal Society of Medicine and may be distributed in future on various internet channels. 

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