By Sheela Upadhyaya, a life sciences consultant specialising in rare disease

This year, Rare Disease Day falls on 29 February. There are so many activities happening across the rare diseases community, both here in the UK and over the world. I for one am excited and delighted to see and hear about them—it means the system is talking about rare, raising awareness and making progress to address the challenges and issues the rare disease community face each day.

Here are just some of these activities. Wherever you are on that day, do whatever it is that you want to do to stand up for rare. Maybe I will see some of you at one of these events. Do come and say hello.

Though individually rare, rare conditions collectively affect 3.5 million people in the UK. There are over 7,000 identified rare conditions, with eight out of 10 linked to genetic code changes

Events for Rare Disease Day in the UK

Cambridge Rare Disease Network

On Rare Disease Day, Cambridge Rare Disease Network will have a public webinar on patient-centred research, from 12.30 pm to 1.30 pm.

Find details and book here:https://bit.ly/RDDbrc 

Genetic Alliance UK

Genetic Alliance UK will host its annual Rare Disease Day parliamentary receptions in Westminster, Cardiff and Edinburgh, and it is also organising a virtual Rare Disease Day reception, featuring speakers from each of the four UK nations and open to everyone. Find details and register here:https://www.eventbrite.co.uk/e/rare-disease-day-2024-joint-nation-online-event-tickets-788944142167.

It will also release a report examining the handling of rare conditions in the UK, focusing on the 150 most common ones. The report’s findings will be accompanied by a user-friendly central data source on rare diseases, hosted on Genetic Alliance UK’s new website, set to launch in mid-February:www.geneticalliance.org.uk.

The alliance will be highlighting the shared challenges faced by millions living with various rare conditions. Faster diagnosis, coordinated care, heightened awareness among health professionals and improved access to specialist treatment could significantly enhance the lives of affected individuals and their families across the UK. Its specific focus this year will be “The Stories Behind the Stats”.

Events for Rare Disease Day around the world

Rare Disease Day: Light up for Rare 

Show support for Rare Disease Day by joining the Global Chain of Lights! Light or decorate your home with Rare Disease Day colours at 7 pm local time on 29 February 2024. Get creative with garlands, candles or colourful decorations. Share a photo on social media using “Global Chain of Light” filters and #rarediseaseday. 

More details athttps://www.rarediseaseday.org/downloads/lightupforrare 

Rare Disease International

For Rare Disease Day, Rare Diseases International (RDI), the global alliance for rare diseases, is seeking not only to bring awareness to the challenges faced by people with rare diseases but also to highlight the many achievements of its community members. 

RDI is launching Mapping Rare, an interactive map highlighting key accomplishments and initiatives created by and for the rare disease community across the world. The map features profiles of community leaders, infographics and multimedia assets, highlighting what the international community can accomplish by working together to improve the lives of people living with rare diseases (PLWRD).

The project draws on RDI’s years of advocacy at the international level and seeks to build on the political momentum for rare diseases that has been growing since the first-ever UN resolution on rare diseases in 2021, by bringing awareness to the needs of the rare disease community, as well as highlighting its achievements and showcasing its strength.

National Institute of Health (NIH)

Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect and NIH collaborations that address scientific challenges and advance research for new treatments.

The goals of Rare Disease Day at NIH are to:

• demonstrate the NIH commitment to helping people with rare diseases through research
• highlight NIH-supported rare diseases research and the development of diagnostics and treatments
• initiate a mutually beneficial dialogue among the rare diseases community.
• exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts
• shine a spotlight on stories told by patients living with a rare disease, their families, and their communities.

Further details here:https://rarediseases.org/event/rare-disease-day-at-nih-2024 

Food and Drug Administration (FDA) (USA)

FDA will host Rare Disease Day, a virtual public meeting, on 1 March 2024. This year’s Rare Disease Day is dedicated to patients and health care professionals. Panels will discuss:

• the legal framework for approving studies and medical products at FDA
• what FDA does during review processes to approve medical products?
• decentralized clinical trials and digital health technologies
• where to find important information and documents related to clinical trials
• information that can be obtained from medical product labels
• legal and ethical requirements for consent forms in clinical trials
• FDA initiatives to advance medical product development for rare diseases
• ways for patients to engage with the FDA.

To register, visit:https://www.surveymonkey.com/r/FDARDD2024 

Editor’s note: Please also read Sheela’s companion article for Rare Disease Day 2024, in which reflects on recent progress across the UK with the UK Rare Diseases Framework.

About Sheela

Sheela Upadhyaya is a consultant to the life sciences industry. She led the NICE Highly Specialised Technology Programme, the programme to evaluate medicines and technologies for rare and ultra-rare conditions for commissioning in the NHS. She was NICE’s Rare Disease and COVID-19 strategic adviser. She is chair for Together for Rare Diseases (Together4RD), an initiative to support collaboration between European Reference Networks (ERNs) and industry.

She is an adviser to the European Haemophilia Consortium Think Tank, and past chair for the ISPOR Rare Disease special interest group.

Sheela can be contacted atsheelaupadhyaya@gmail.comor connect with her onLinkedIn

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