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The Future of RARE

Future of rare disease

Future of RARE edition links

Full edition

Editor’s Welcome

“There is no shying away from it—big things are happening and we are all feeling it, but we must not lose sight of the wonder that can still be found in our glorious world. And while it may not always feel like it, much of that joy and wonder comes from our interactions with our fellow humans and in their innovation and endeavour.” Nicola Miller

Rare Inspiration

New frontiers—PACS1

Nicola Miller met with Taruna Reddy, president and co-founder of PACS1 Foundation, and Dr Jean-Dominique Vassalli, scientific advisory board member and co-founder, to learn how this fledging foundation are on a mission to find a cure for this single mutation disease, and how they are setting a new standard for engagement between advocacy organisations and researchers. Their achievements to date, since their inception in 2017, make them our RARE Inspiration

Clinical Spotlight

Gemonics for all? Setting the new standard for diagnosis—the gold standard!

The Rady Children’s Institute for Genomic Medicine, San Diego, may be just six years old but it has established itself as a stalwart of paediatric genomics and has many impressive achievements to date—including two Guinness World Records for rapid genetic disease diagnosis by whole genome sequencing. Born in Glasgow, Scotland, Dr Stephen Kingsmore MD DSc grew up in Northern Ireland and graduated from medical school in Belfast before moving to the USA to work on “big science”. He now leads the institute, and it was our honour to meet with him and have the opportunity to throw a spotlight on the important work of his institute

Charity Spotlight

What’s in a name? The gene people on why they are so much more than a new name

To say that 2021 has been an interesting and action-packed year for Gene People (formerly Genetic Disorders UK) would be an immense understatement. There has been a complete restructure with the demerger of two divisions of the charity into their own stand-alone charities—Jeans for Genes Campaign and Immunodeficiency UK (previously Primary Immunodeficiency UK)—with a new chair of trustees, a new CEO and a new name. But already thoughts are turning to the new year

Future of RARE Intro

“The best way to predict the future is to invent it.”

The future of RARE is ours for the inventing, so let us dare to think… BIG. 

Building training programmes – the future of rare disease education

Successful rare disease education programmes need to create opportunities for patients, carers and multidisciplinary teams to share information and find points of mutual understanding. Read on to find out how engaging your stakeholders and empowering them as learners can help drive forward timely interventions and positive outcomes

Strategising rare disease awareness and education globally

Making an impact in rare can be challenging, especially when elevating grass roots activities into global initiatives. It is therefore vitally important that we share learnings and ideas. This round table, hosted by Gavin Jones of OPEN Health, brought together a group of inspiring individuals working to make a difference across rare bone disease and growth disorders—we hope the conversation provides valuable insight and encouragement! 

Do you know someone with FOP

Data-driven futures for rare. The role of patient organisations in the future of data generation

OPEN Health’s global advisor on rare diseases, Gavin Jones, talks to Rhian Kiely, real-world evidence commercial director, Europe, and Sergio Diaz, patient-centred outcomes consultant, at OPEN Health, about the increasing role patient advocacy groups play in generating real-world data for clinical trials

Resetting the status quo. Patient involvement in medical affairs

Medical affairs has historically been viewed as a function directly interfacing with healthcare providers, but without direct links to patients or their advocates. In recent years, these links have started to strengthen, but interactions have still tended to be indirect and distant. If we are to improve outcomes this is no longer a way of thinking that is fit for purpose. The team at OPEN Health is fixed on an approach where patients and medical affairs work in synergy, and their team is demonstrating the value of this model to their pharmaceutical and biotech clients throughout the entire product lifecycle 

Looking East for RARE

When looking at Asia, we are dealing with very small recognised rare disease patient populations, so innovative treatments and access to resources to manage patients, spur research and access experts are limited. Diagnosis is a difficult part of the rare disease patient journey, especially in some Asian countries where there are gaps in care and referral pathways. Specialised physicians tend to be limited and centralised in cities, adding another burden for patients and their families. Traveling from rural communities to cities comes with so many challenges; the pandemic has only exacerbated that. 

The future of healthcare: whole genome sequencing for newborn screening

Our increasing ability to harness the power and benefits of sequencing and analysing genomes for our healthcare means that this technology could potentially be used to expand newborn screening from the present nine conditions offered through the heel prick test to many more, including a wide range of rare diseases. But there are many practical, ethical and societal questions that need to be addressed before such a programme could be introduced. Genomics England is beginning a journey with parents, the public and health professionals to explore some of these questions

The future for the world’s first identified inborn error of metabolism

With an approved drug now available for the AKU community, there is much to feel optimistic about, but the AKU Society aren’t taking their foot off the gas yet. Ciarán Scott shares how they now have their sights set on equitable access for all 

Rare disease patient advocacy—recognise our value and invest in our future

There isn’t an organisation on the planet that hasn’t had to review their operating practices in the face of the current health pandemic. Rich Thompson, CEO, Findacure, shares his insights on the impact of this on small rare disease charities, and how the time is now for realising the true value of these organsiations 

The future of patient driven research. Challenges and solutions

The Orphan Disease Center have recognised the shift toward, and the need for, a much more patient-centred approach to research and the development of therapies for rare disease. Their mission is to help and empower patients and patient organisations with their various programs and initiatives. They work to unite the patient community with the research to ensure their voice is being heard

Collaborative knowledge transfer: how rare disease non-profit IPWSO is using Project ECHO® to build a global Prader-Willi syndrome community

We all know that collaboration is king, and here the International Prader-Willi Syndrome Organisation share how they are using tools to facilitate meaningful collaboration and build a global community. Agnes Hoctor, IPWSO, explains

The future of care coordination for rare conditions: RDNN is rising to the challenge!

It is certainly not a new concept that increased awareness and greater care coordination should be high priorities in a bid to improve the lives of those living with rare disease. Yet still so many people face daily struggles that could be significantly reduced if these aims were achieved. 
The Rare Disease Nurse Network (RDNN) believes the rare disease nurse can be pivotal in supporting lines of communication, to ensure timely diagnoses and improved care coordination. Michelle Conway outlines their vision 

Digital health revolution and its transformative potential for rare diseases

Before the global pandemic, health and care systems had a poor track record in adopting digital technologies at scale1. The COVID-19 restrictions also left the rare disease (RD) community feeling forgotten and unheard2. However, health care systems rapidly implemented new tools, many technology-based, to allow health care to be delivered when physical contact is not possible3. Many technologies adopted during the first phase of the pandemic were already well established but not widely implemented; this enabled remote consultations to become much more prevalent much more quickly4

CDG Society: history and development

The CGD Society, previously known as The CGD Research Trust, provides support and information to individuals and families around the world affected by Chronic Granulomatous Disorder, a life-limiting and life-threatening rare disorder. People with CGD carry a faulty immune system gene, which means that white blood cells, called phagocytes, do not function properly. CGD-affected people tend to get frequent bacterial and fungal infections and need to take daily medication to stay healthy. However, many of the health complications seen in people with CGD are due to chronic inflammation rather than infection. 

Has COVID-19 changed the future of rare disease research?

With over 20 years experience in clincial research, Juliet Hulse talks about the legacy of COVID-19 on rare disease research and how we can build on those lessons as we cautiously emerge into new ways of working and conducting research

The importance of transition within the future of healthcare

Katie Callaghan, 19, lives with multiple rare conditions including Ehlers-Danlos syndrome and chronic intestinal pseudo-obstruction. Katie is passionate about advocacy, especially transition, and is an active participator and contributor for the RARE Youth Revolution 

Eurordis – Rare 2030 and Europe’s action plan for rare diseases

EURORDIS-Rare Diseases Europe is calling on the rare disease community to join and support their campaign #30millionreasons for a renewed European legislative framework on rare diseases, to improve the life of every person living with a rare disease in Europe. Despite great strides being made with scientific advancements and increased public consciousness, too many people with a rare disease are still facing unmet needs and inequalities in accessing diagnosis, treatments and care. It is time for the 30 million people with a rare disease living in Europe to be heard. We call for a European Action Plan for Rare Disease – the time to act is now

Rare Ramblings – NHS or Bust

Now I’m sure we’re all getting fed up with the news coverage about COVID-19 and the misdemeanours of a select few politicians and officials, but I think the happenings of the last eighteen months have brought out the best and the worst in the country as a whole, in polar extremes. It has certainly highlighted deficiencies in some areas of the NHS, as well as the strengths. 

Digital health platforms. Breaking silos to develop treatments

Healthcare is evolving at a tremendous pace. Many articles in this edition have detailed exciting changes improving health in general and for rare disease patients in particular. 

Genomics of rare diseases. Understanding Disease Genetics Using Gemonic Approaches

Genomics of Rare Disease is one of the latest volumes in the Translational and Applied Genomics series by Academic Press, Elsevier. Aimed at those who wish to gain a deep understanding of advanced genomics, this book details the current knowledge surrounding our understanding of genetic and rare diseases. 

Surviving hemophilia. A road trip through the world of healthcare

Born in 1951, Cees Smit has lived with a diagnosis of haemophila A for nearly 70 years. Throughout the course of his life to date, Cees has witnessed first-hand great change across the healthcare system and landscape for the haemophilia community. 

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