Table 1.

The eight lessons of rare disease 101

Lesson	Content	Reason
Introduction to Rare Disease	Definition of a rare disease Prevalence of rare disease Aetiology of rare disease Relevance of rare disease	“[I found helpful] Importance of rare diseases in clinical practice” RSM 2017, feedback “This is the first time I've attended an event on rare diseases and at first I really wasn't sure what to expect but having attended I have had a great insight into rare diseases and learnt a lot” RSM 2017, feedback “Relevance of rare disease to my everyday practice” RSM 2019, learning need “Understanding of how rare disease affects doctors from across the medical profession” RSM 2019, learning need “An awareness of the size of the RD problem” RSM 2020, learning need
The Diagnostic Odyssey	What is meant by the term ‘Diagnostic Odyssey’ Why a rare diagnosis might be delayed The impact of the diagnostic odyssey on patients, families and health systems The benefits of a timely diagnosis in rare disease Resources and approaches for reducing the diagnostic odyssey	“[I would like to know more about] how we need to work on the diagnostic challenges surrounding rare disease” RSM 2017, learning need “To consider a diagnosis of rare diseases in patients with symptoms that persist or don't match up” RSM 2017, take away “This conference will empower me to consider rare diseases in the future when making a diagnosis, and not shy away from them because of a lack of understanding or knowledge of the specific disease” RSM 2019, feedback “A better understanding of how to spot rare diseases, and what to do when you think a patient may have one but you don't have detailed/any knowledge about the specific disease in question. Dealing with this uncertainty in a productive way!” RSM 2019, learning need “More information about how rare diseases are diagnosed and how it affects the patients life” RSM 2019, learning need
Sarah’s story (part of lesson 2)	A first-hand account of a patient journey	“I was really moved by her story” RSM 2020, feedback “Have seen her speak about the book before and have read it, and her talk was still interesting” RSM 2020, feedback “Wonderful advocacy—bravo Sarah” RSM 2020, feedback
Understanding the Common Challenges	The global challenges associated with rare diseases Diagnostic and management challenges Psychosocial challenges Short- and long-term strategies for managing patients	It has opened up my mind to many conditions I didn't know about before and how these conditions can affect patients and their families, not just the disease itself but also everything else. I am now more inclined to find out more about rare diseases and hold a different communication approach in practice” RSM 2017, feedback "A better understanding of how to manage patients with rare diseases” RSM 2017, learning need “Better aware rare disease affects 1 in 17…importance of having someone who can co-ordinate care (GP) and manage general symptoms” RSM 2019, feedback “Better understanding of the role of patients in research” RSM 2020, learning need
Diagnostic Tools	Red flags for a possible undiagnosed rare disease Accessible diagnostic tools Key principles in searching for a diagnosis Emerging tools to assist diagnosis	hat are the key triggers to start to think outside the box” RSM 2017, learning need “An understanding of advances in the field” RSM 2019, learning need “Where we are with diagnostics with rare diseases in UK and new projects” RSM 2020, learning need
The Role of Genomics	Genetic testing, exome sequencing and whole genome sequencing 100K Genomes Project The NHS Genomics Medicine Service The Genomics Education Programme	“An insight into rare genetic diseases” RSM 2017, learning need “New knowledge of diagnosis rare diseases and role of 100K genome project” RSM 2019, feedback “Ideas and where to find information about rare diseases learn about nhs genomics programme” RSM 2019, learning need “Update on 100K genome. Further insight in rare diseases from patient and healthcare professional perspective. Need to introduce education on rare diseases at medical student level” RSM 2019, learning need “Better understanding of mainstreaming of genomics at the coal face” RSM 2019, learning need
Patient Advocacy Groups	What patient advocacy groups are and why they are needed in rare disease Services provided by patient groups to patients, families and healthcare professionals Case studies of patient groups (from established charities to kitchen table support groups)	“[I would recommend] the opportunity for students to hear from other patient groups” RSM 2017, feedback “Curious about what rare diseases organisations do and whether there is opportunity for myself to be involved” RSM 2017, learning need “Really enjoyed the presentation from patients and patient groups, and would like more of those” RSM 2017, learning need “Latest advancements in rare diseases, patient advocacy groups,…” RSM 2024, learning need
Supporting Patients for Better Outcomes	The role of good communication in coordinating patient care and supporting families Effective communication and listening techniques Lines of communication when dealing with patients and caregivers Reflection on current communication skills and areas for improvement	“[I found helpful] topics touched on around communication and consider how difficult it must be to not have a diagnosis due to delays in reaching this point” RSM 2017, feedback “I hope to learn more about how to deal with patients that may present with a rare disease” RSM 2017, learning need; “An appreciation of the best support for patients with rare diseases” RSM 2020, feedback A better understanding of the role of patients in research” RSM 2020, learning need
Education	Educational rare disease resources Opportunities for healthcare professionals in rare disease	“More information about rare disease” RSM 2017, learning need “Where we are with diagnostics with rare diseases in UK and new projects” RSM 2020, learning need “…how people can educate themselves on other rare diseases” RSM 2024, learning need

The eight lessons of Rare Disease 101 alongside (1) a short summary of the content of each lesson, (2) examples of feedback and attendee-identified learning needs that directed content development