Health Awareness
Rare Diseases Q3 2023
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A reliable resource dedicated to easing rare disease research for all
Participant screening for complex research studies can be lengthy and costly, especially in rare diseases in which there are smaller patient groups geographically dispersed. Established in 2007 at the University of Cambridge, the National Institute for Health and Care Research (NIHR) BioResource brings people and health research together, recruiting over 250,000 recallable volunteers with and...
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Rare disease education reaches over 1 million learners
Education on rare diseases is crucial. Estimates suggest there are approximately 10,000 rare diseases, with 263–446 million people affected worldwide. Since its launch in September 2022, the Medscape Pathways in Rare Disease Learning Centre has reached over 1 million learners, with education spanning 25 therapeutic areas. Considering the volume of monthly learners engaging with the...
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Faster treatment access: why putting patients first leads to better outcomes
Collaboration with regulators, physicians and pharmaceutical firms can improve access to medication for those living with a rare disease. Embracing the rare disease community, as well as an effective reimbursement and healthcare system can help speed up access to care. BioCryst Pharmaceuticals explains how committed relationships with patient groups, health care professionals and regulators can...
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Ensuring universal health coverage works for every Person Living with a Rare Disease
Ensuring universal health coverage (UHC) for Persons Living With a Rare Disease (PLWRD) means that this often-neglected community has access to the healthcare services they need, with less or no out-of-pocket expenses. For the more than 300 million PLWRD worldwide, the time to act on the commitment expressed in the Political Declaration on Universal Health...
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Uncovering rarity in heart failure
The Government recently launched a call for evidence to inform its major conditions strategy and pointed to cardiovascular disease as one of the key major conditions that it will aim to make improvements in.1 In the UK, over a million people are currently living with heart failure2 – where the heart is unable to pump...
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Network of support services for families faced with mitochondrial disease
This page has been funded by UCB, but editorial control lies with the contributors. UCB only performed a medical accuracy review but was not otherwise involved in the content. Mitochondrial disease is extremely rare and life-changing. Thanks to dedicated patient advocacy and growing research, patients have reason for hope. When a person receives a shock...
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How far are we from being able to treat mitochondrial disorders?
This page has been funded by UCB, but editorial control lies with the contributors. UCB only performed a medical accuracy review but was not otherwise involved in the content. Mitochondrial disorders are a group of rare diseases that affect 1 in 5,000 live births. They can present at any age and have a drastic impact...
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Partnering with the rare community to co-create training opportunities
Often, the routes to access support for people in the rare disease community are patient advocacy groups, charities and patient organisations. However, these organisations may lack knowledge of healthcare, industry and medicines access. Having delivered frontline healthcare for patients in the NHS, I’ve experienced, firsthand, the difficulties faced by the rare disease community as people...
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Clinical trial search: how to match patients and help them with unmet needs
An online platform is making the clinical trial search easier for patients seeking treatments and pharmaceutical companies that need the right patients to conduct them. Michel van Harten is trained both in economics and as a physician, giving him a sharp perspective on both the patient and business side of healthcare provision. As CEO of...
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Optimising patient experience: the power of patient concierge services
Investing in patient concierge services improves recruitment and retention rates, leading to more efficient clinical trials. Individuals dealing with chronic diseases are often eager to participate in clinical trials to find an effective treatment for themselves and others affected. This is especially true in rare diseases, where such trials might represent the sole avenue for...
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Very rare but treatable: how to reach people with paroxysmal nocturnal haemoglobinuria
Paroxysmal nocturnal haemoglobinuria (PNH) is an extremely rare blood disease. However, thanks to a dedicated service, patients can receive expert care, support and a near-normal life expectancy in the UK. As a disease affecting 16 per million people and with around 1,000 confirmed patients in the UK, a diagnosis of PNH can be a huge...
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Tackling rare diseases: Wilson disease patient and millions more like her need help
Rare diseases individually don’t affect large numbers. For example, Wilson disease affects 1 in 30,000 people worldwide — but, together, rare diseases impact millions. Over the years, I’ve been deeply moved by the stories of many patients, but one particularly stands out. A woman talked about her teenage daughter’s Wilson disease — a rare genetic...
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From lab to clinic: what charities are doing to power rare disease progress
Charities play a vital role in attracting investment towards rare diseases and supporting research that might not otherwise make it to the clinic. The rare disease community has long been underserved, with many people struggling to receive the diagnosis and treatment they desperately need. Finding collaboration, funding and the right support are all hurdles for...
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Individualised medicines offer hope for children with a rare disease
A commercially viable pathway for individualised medicines could make treatments accessible to rare disease patients. What started as a race against time for my daughter Mila, diagnosed at six with a rare, fatal condition, has turned into a movement to make individualised medicines a routine way of treating genetic diseases. Instead of one drug for...
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Future of medical education: how to ensure rare disease is part of learning
Training to equip healthcare professionals to diagnose and treat people with rare conditions with confidence and compassion is an important part of the patient journey. Collectively, rare diseases form a discipline of medicine with unique challenges and unmet patient needs. A fundamental understanding of rare disease is therefore essential for healthcare professionals. Medics4RareDiseases (or M4RD)...
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Ways to apply digital and technological solutions to benefit people with rare diseases
Pursuing solutions and not settling for the status quo is the manuscript being written, and wielding the pen is a pharmaceutical company inspired by innovation. Sanofi’s ambition to become the first artificial intelligence (AI) driven global pharmaceutical company marks the next chapter in its commitment to healthcare professionals and patients. AI and digital solutions in...
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Challenges in rare disease treatment approval — and how to solve them
Securing funding approval for a rare disease treatment can pose unique challenges. Andrew Mumford, head of an agency supporting pharmaceutical companies throughout this process, discusses these issues and how to address them. What are the main challenges in gaining approval for rare disease treatments? Rare disease treatments often have an ‘evidence gap,’ where the small...
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Rare disease patient organisations: how to help them drive change
Patient organisations are formed by, and for, people whose lives are directly affected by a specific condition. However, with rare diseases, progress may be more challenging. Change happens when those affected by a common challenge come together to make a difference. Shared experience unites people, driving them to solve complex problems. But, when it is...
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Partnering with patients on their rare disease journey
As more rare diseases are diagnosed, it’s becoming vital for patients and their families to receive guidance and advocacy in their search for effective treatments. Rare diseases are defined as affecting less than 1 in 2,000 people in the UK. Due to advances in diagnostics, there are more rare diseases being discovered every day. This...
