Programme and Speakers


Session one


Registration opens


Welcome address
Mary Rose Roberts, Chief Operating Officer, Beacon for Rare Diseases 

The future of rare advocacy in UK Parliaments
Nick Meade, Director of Policy, Genetic Alliance UK

Rare disease research – the Paediatric Neurology perspective
Prof. Heinz Jungbluth, Professor of Paediatric Neurology, King’s College London

Challenges to translating rare disease research into impact for patients
Catriona Crombie, Head of Rare Disease Translational Challenge, LifeArc


Tea break

Session two


Empowering lives: The Sickle Cell Society’s impact
Addassa Follett, Lead Mentor, Sickle Cell Society

Rare disease research funding at the MRC, and the MRC-NIHR rare diseases research platform
Richard Evans, Programme Manager for Clinical Sciences and Rare Diseases, MRC UKRI

Awards ceremony for The Student Voice Prize 2022



Session three


Trials and tribulations in rare diseases
Dr Melita Irving, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust

Lighting talks; can our speakers #BeatTheBell?
– Lara Bloom, President & CEO, The Ehlers-Danlos Society
– Loren Cameron, Programme Manager, Cystic Fibrosis Trust
– Will Evans, Clinical Associate Professor, University of Nottingham
– Allison Watson, CEO, Ring20 Research and Support
– Esme Down, Medical Student & Patient Advocate, Newcastle Medical School
– Michelle Conway, Founder, CRD Consulting and Lorna Pender, Global Patient Engagement Lead, Clinigen


Afternoon break

Session four


A patient perspective: lived experiences of being a GOSH patient and volunteer
David Rose, Occipital Horn Syndrome Advocate & Volunteer, GOSH

Collaboration and conflict: navigating the patient-pharma relationship (Panel Discussion)
– Josie Godfrey, Director, JG Zebra Consulting
– Heidi Livingstone, Senior Public Involvement Adviser, Public Involvement Programme, NICE
– Alex Fell, Director, PMCPA
– Amit Aggarwal, Executive Director, Medical Affairs and Strategic Partnerships, ABPI
– Sailaja Maganti, Lead, Nodular Prurigo International

Closing notes


Drinks reception until 17:45

Our mainstage speakers

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David Rose

Occipital Horn Syndrome Patient and Volunteer

Great Ormond Street Hospital

Read David's bio

David Rose has an ultra-rare condition called Occipital Horn Syndrome. He has been doing talks on rare disease life for the last 9 years at various events and conferences globally. Covering many different areas, such as: the science behind Occipital Horn Syndrome, what it’s like to go through all the education milestones when managing a complicated ultra-rare disease, how he has navigated employment with a rare disease, the diagnosis journey and much more.

For the 5 years, David has been working for Rare Revolution Magazine – a magazine focusing on rare diseases in the UK. Through his role in Business Development, he has met so many fantastic, rare disease advocates and industry professionals from all over the globe all making a huge difference in the various rare disease communities.

Alongside his work at the magazine and speaking, David volunteers for a cause close to his heart – Great Ormond Street Hospital. A famous paediatric hospital in London. He has had a variety of volunteer roles within the charity. His favourite part is speaking at large charity events about what it’s like spending huge amounts of time in and out of hospital from a toddler up until moving to adult healthcare settings at 19.

David joined Mitrofanoff Support as a trustee 18 months ago. David has been using a Mitrofanoff catheter since the age of 7, back in 1995, which was carried out by Great Ormond Street Hospital in London.

Picture of Heinz giving a talk.

Heinz Jungbluth

Professor of Paediatric Neurology

King’s College London

Read Heinz's bio

Heinz Jungbluth is Professor of Paediatric Neurology at King’s College London and Consultant Paediatric Neurologist at the Evelina Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London, UK, with more than 25 years clinical experience in Paediatric Neurology and the neuromuscular field.

His main research interest is in early-onset neuromuscular and neurodevelopmental disorders.  He has been leading the genetic and phenotypic characterization of congenital myopathies, in particular those affecting excitation-contraction coupling due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene, and related episodic disorders such as malignant hyperthermia (MH) and (exertional) rhabdomyolysis (ERM). He and his group have also introduced the novel concept of congenital disorders of autophagy, a class of inborn neurometabolic and neuromuscular conditions linking aberrant neurodevelopment with common adult-onset neurodegenerative and neuromuscular disorders such as dementia, PD and ALS.

He has published more than 200 peer-reviewed papers and chapters in key textbooks. He is a member of national and international expert consortia concerned with improving the care and developing therapies for early-onset neuromuscular and neurological disease.

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Catriona Crombie

Head of Rare Disease Translational Challenge


Read Catriona's bio

Dr Catriona Crombie is an expert in translational medicine, specifically moving research out of Universities and into the commercial environment. She has worked for over 15 years in research funding in the state and charity sectors.

Catriona is Head of the LifeArc Rare Disease Translational Challenge. She has responsibility for LifeArc’s rare disease research portfolio, which includes grant funding for academics to progress their research towards patient impact as well as the awards made in partnership with others e.g. Innovation Hubs for Gene Therapy funded in partnership with the MRC.

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Richard Evans

Programme Manager for Clinical Sciences and Rare Diseases

Medical Research Council

Read Richard's bio

Richard is a programme manager in the Population and Systems Medicine team at MRC, and covers clinical sciences, inflammation, endocrinology and rare disease research. He has worked at MRC for around six years, after over ten years of research in neuroscience and chemical toxicology, and a brief stint as a university data librarian.

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Nick Meade

Director of Policy

Genetic Alliance UK

Read Nick's bio

Nick has worked at Genetic Alliance UK for more than 15 years. Genetic Alliance UK is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. The members and the people they support are at the heart of everything the organisation does. Genetic Alliance UK advocates for fast and accurate diagnosis, good quality care and access to the best treatments; and actively supports progress in research and engages with decision makers and the public about the challenges faced by our community. Nick and his colleagues work closely with the chairs of the All Party Parliamentary Group and Cross Party Groups for Rare, Genetic and Undiagnosed Conditions.

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Addassa Follett

Lead Mentor

Sickle Cell Society

Read Addassa's bio

Addassa was diagnosed with Sickle Cell Beta Thalassemia+ at 3 months old. Addassa was later diagnosed with Type 1 Diabetes at 3 years old. Therefore, Addassa understands the challenges that come with managing a chronic medical condition. Despite engaging with her healthcare team from a young age, she found growing up with Sickle Cell lonely and found talking about Sickle Cell extremely challenging, she also remembers the frustration that came navigating social life, friendships, and education with not one, but two chronic health conditions. However, with the help of a supportive family network paired with her positive attitude, Addassa has never let Sickle Cell stop her from achieving her goals.

Today, she holds a BA (Hons) in Professional Music Performance and a MA in Music Education and currently works as a Music Educator. Addassa is a determined, passionate individual, who is devoted to making a positive impact on people’s lives. She is a keen academic, whose experience working in higher education and music education, has led to her supporting, mentoring, and teaching individuals and their families from underrepresented backgrounds.

Addassa is also a passionate advocate for promoting and highlighting the physical and psychological impact of Sickle Cell Disorder. As the newly appointed Lead Mentor for the Sickle Cell Society, Addassa believes she can be a role model and bring joy and hope to the many children and young people living with Sickle Cell today. When she is away from work, Addassa enjoys heading out to the best live music venues in London, tucking into a good comedy drama and spending time with her family – dog included!

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Melita Irving

Consultant clinical geneticist

Guy’s and St Thomas’

Read Melita's bio

Dr Melita Irving trained in paediatrics before joining the clinical genetics department at Guy’s and St Thomas’ NHS Trust in London. She specialises in all types of genetic conditions affecting childen, adults and fetuses, though her subspeciality focus is on disorders affecting the skeleton. She undertook a fellowship in skeletal dysplasia at the Royal Children’s Hospital, Melbourne and has since established multidisciplinary paediatric clinics in skeletal dysplasia and achondroplasia in London. She is chief investigator for a number of clinical trials in skeletal dysplasia conditions. Melita is also the author of the popular Haynes Manual book, ‘Human DNA – Understanding Your Genetic Code’.

Our Lightning Speakers

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Lara Bloom

President and CEO

 The Ehlers-Danlos Society

Read Lara's bio

Lara Bloom is the President and CEO of The Ehlers-Danlos Society and responsible for globally raising awareness of rare, chronic, and invisible diseases, specializing in the Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and related conditions. Lara leads coordinated medical collaboration, raising funds for research and focuses on global progression, education and awareness.


Her passion is pushing boundaries and fighting for progression in Patient Engagement and Global Collaboration, and she was officially appointed an Academic Affiliate Professor of Practice in Patient Engagement and Global Collaboration at Penn State College of Medicine, USA, in March 2020, which commemorated ten years in the field of patient engagement and advocacy leadership. She is a published author in various renowned journals and speaks worldwide at conferences, policy meetings, corporate and fundraising events and academic lectures as an expert keynote speaker.


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Allison Watson

CEO (Cofounder)

 Ring 20 Research & Support UK

Read Allison's bio

Mum to David age 26 with Ring Chromosome 20 Syndrome, I’m co-founder/CEO for Ring20 Research and Support UK CIO a patient group setup to address the needs of those living with r(20) syndrome – a difficult to diagnose ultra-rare epilepsy with no recommended treatment, no patient registry, no clinical guidelines, no prognostic information and very limited research. We support families and provide information to healthcare professionals worldwide.

I recently founded UK Rare Epilepsies Together (UK RET) to bring together as many of the UK charities that support people with rare epilepsies, following my role as co-lead for ePAG EpiCARE – the ERN for rare and complex epilepsies for 5 years, and my work as Project Manager for RDI supporting the CGN4RD initiative. Collaboration is key.

My professional background is in Business Analysis and Project Management.

I strive for equity, believing that optimal change will come from tackling rare diseases in groupings, rather than individually – harnessing the power of addressing common unmet needs.

We may not have effective treatments until TOMORROW, but I believe it is how we live our lives TODAY that matters and how we learn to cope.


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Loren Cameron

Programme Manager 

Cystic Fibrosis Trust

Read Loren's bio

Loren Cameron has worked at Cystic Fibrosis Trust for the past 2 years, firstly as Data & Projects Manager for the cystic fibrosis (CF) Clinical Trials Accelerator Platform and currently as Programme Manager for the Translational Innovation Hub Network for CF Lung Health & Infection. During her time at the Trust, she has worked on several projects to support the awareness and delivery of impactful research and clinical trials for people living with CF. She currently leads an initiative to better understand the diverse needs and perspectives of the CF community around accessing research opportunities, to better support under-served groups and increase diversity in clinical research participation.

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Lorna Pender

Global Patient Engagement Lead


Read Lorna's bio

Dr Lorna Pender is the Global Patient Engagement Lead with Clinigen, and is also a dermatology patient expert herself, an NIHR Yorkshire research champion, and also works on the Patient Focused Medicines Development group to drive patient-focused initiatives worldwide. Dr Pender works with a number of people in the rare community through her work in early access programmes, and enjoys collaborating with a broad section of the patient community and taking part in community outreach projects to empower people to access the healthcare and medicines they need through early access programmes and clinical trials.
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Michelle Conway

Freelance Consultant and Founder

CRD Consulting Ltd


Read Michelle's bio

Michelle Conway is a freelance consultant and the founder of CRD Consulting Ltd, working across Industry and the third sector to support improved care and access to effective treatments for rare conditions.  Originally trained as a nurse, Michelle has pursued a successful career spanning two decades in the pharmaceutical industry, spending a significant proportion of this time developing strategies to create improved market access for ultra-orphan medicines. 

Graduating with a Master’s in Public Policy in 2019, Michelle combines her knowledge and experience with a passion to remove barriers to effective care and treatment for those living with a rare condition using her expert project management and networking ability to ensure projects are delivered on time and to the highest standards.  Michelle has worked with several leading charities supporting people living with rare diseases as well as supporting consultancy and pharma clients on projects focused on access and policy for highly specialised medicines.

Michelle is driven by a desire to improve the lives of those who face a daily struggle by helping remove barriers to effective care and treatment wherever she can, drawing on her extensive experience and knowledge of the sector.

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Will Evans

Clinical Associate Professor in PRISM Research Group

Centre for Academic Primary Care, University of Nottingham

Read Will's bio

Will Evans is the father of Sam who has Niemann-Pick type C, an ultra-rare metabolic disease, a former chair and current trustee of NPUK the disease’s national charity.

Will works clinically as a GP in Leeds, and as a GP with a specialist interest in Genetics with the Yorkshire regional genetic service, seeing patients with rare genetic conditions.

Will is also a Clinical associate Professor in the PRISM research group, in the Centre for Academic Primary Care at the University of Nottingham. His research interests involve rare diseases, genomics in Primary Care, large data base analysis and precision medicine.

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Esme Down

Medical Student and Rare Disease Patient

Newcastle University


Read Esme's bio

Esme is a 3rd year medical student at Newcastle University who has a number of rare diseases including Ehlers Danlos Syndrome, Mast Cell Activation Syndrome and Gastroparesis.


As both a medical student and patient she is acutely aware of the lack of representation of disabled healthcare workers and the lack of understanding that comes with this. She has worked as a HCA in both community and hospital settings. She is determined to become a doctor and is excited to show people that disability and chronic illness need not be a barrier to being a medical student and future clinician.

Our Panelists

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Heidi Livingstone

Senior Public Involvement Adviser


Read Heidi's bio

Heidi has been in the Public Involvement Programme (PIP) since 2011; having at NICE since 2005 and in the NHS since 1997. She is responsible for patient and public involvement in Health Technology Assessments work at NICE, specifically Technology Appraisals and Highly Specialised Technologies, and has experience of working on Scientific Advice, Interventional Procedures, Medical Technologies and Diagnostics.  Heidi works with individual patients, carers, lay people and patient organisations who wish to get involved in the guidance, providing support, training and advice.  She has led on different service evaluations of patient participation in the technology appraisal process at NICE and provides training for patient groups as well as materials to help them participate in NICE.

Heidi is also a member of the HTAi Patient and Citizens Involvement Group steering group and works with colleagues internationally to improve patient involvement in HTAs, particularly in medicines HTAs. She was co-chair of the project group on developing the International Summary of Information for Patients. Heidi is a contributing authors in Patient Involvement in Health Technology Assessment, Springer, 2017( lead author on Evaluation of the impact of patient input in health technology assessments at NICE (International Journal of Technology Assessment in Health Care).

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Amit Aggarwal

Executive Director, Medical Affairs and Strategic Partnerships


Read Amit's bio

Amit Aggarwal has over 14 years experience in the pharmaceutical industry, most recently at LEO Pharma as Medical Director for the UK and Ireland. Prior to that he spent over a decade at Bayer where he held various roles including pharmacovigilance, Global medical affairs, and latterly as Director of Medical Affairs UK for General Medicine.


His background is as a medic, spending 5 years working clinically in the NHS, mainly in secondary care. Amit has worked on both innovative and established product launches, spanning a range of therapy areas including oncology, women’s health, cardiovascular medicine, dermatology and thrombosis in the UK and globally.


Amit holds a MA in Neuroscience from the University of Cambridge, and a MBBS from Guy’s, King’s & St Thomas’ School of Medicine.

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Josie Godfrey


 JG Zebra Consulting

Read Josie's bio

Josie has worked in rare diseases and novel therapies for 14 years. She joined NICE to establish the NICE Highly Specialised Technologies programme following her time at the National Specialised Commissioning Team, where she led work to establish the UK’s first Health Technology Assessment (HTA) programme for rare diseases. She currently runs a consultancy business specialising in strategic market access, policy and stakeholder engagement. She is the Strategic Director for Duchenne UK’s Project HERCULES, an award-winning multi-stakeholder collaboration developing evidence and tools to support access and reimbursement processes for new treatments for Duchenne Muscular Dystrophy.

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Alex Fell



Read Alex's bio

Alex Fell, is the Director of the PMCPA – the Prescription Medicines Code of Practice Authority which is the self-regulatory body responsible for embedding and enforcing the ABPI Code.

Before joining the PMCPA, Alex worked for Amicus Therapeutics, a biotech focused on rare disease as the Vice President for Risk International.  Before this, Alex spent over 13 years with GSK in ethics and compliance leadership roles in the UK, USA, and Singapore.  His roles included Head of Ethics and Compliance for GSK’s Europe Pharmaceuticals Business, Head of Compliance for the International division of Consumer Healthcare and Director Internal Audit.

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Sailaja Maganti


Nodular Prurigo International

Read Sailaja's bio

An almost 20-year veteran of the rare, debilitating and distressing skin condition, Prurigo Nodularis (itchy, neuro-immunological, inflammatory condition), Sailaja leads the largest global patient support group of almost 5,000 – Prurigo Nodularis International (PNI). She is currently establishing PNI as a formal charity and will assume the roles of Chair and Trustee.

Sailaja is also a working group member of the Rare Disease Research Network, a partnership between CamRare and the Patient Led Research Hub, funded by the NIHR and sponsored by Cambridge University Hospitals NHS Foundation Trust. She is also a NICE Public Involvement Programme Expert Panel member. As a Prurigo Nodularis patient expert she also acts as an advisor, consultant and partner. 

A passionate and outspoken advocate, Sailaja is determined to see those with a rare disease receive the care and dedicated treatments they all need and deserve, on par with patients of mainstream conditions. She wants the hard-earned insights of rare disease patients’, as well as their expertise and experience taken seriously. Sailaja is able to leverage and transfer a deep and broad skill-set gained from a lengthy career in the financial services industry to her patient advocacy.