Health Awareness
Rare Diseases Q1 2023
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Why we must all work together to beat childhood cancer
Investment in research has significantly improved survival rates, but cancer remains the most common cause of death in children aged 1 to 14 in the UK. Every day, around five children are diagnosed with cancer in the UK. This is often the start of a long and difficult journey for these children and their families. ...
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Studying lived experiences can help fill the ‘gap’ in rare disease training
The lack of dedicated rare disease training is common among UK medical schools. It is reflected in patient experience and the long road to diagnosis — which people with rare conditions commonly face. There is a gap in medical curriculums when it comes to training in the basics of rare disease. With the NHS facing...
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Finding hope in a global movement to cure rare diseases
Global collaborations are needed to meet the challenges of rare disease and to drive progress in scientific research towards delivering therapies for people living with rare diseases. Individuals with rare diseases and their families typically have a long journey to a diagnosis with little hope for a cure. The Oxford-Harrington Rare Disease Centre, a partnership...
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Accelerating rare disease drug discovery by combining research and therapeutics development
Rare disease research and drug discovery require collaboration between patients, organisations, researchers and clinicians. Only then can treatments for the millions of people with a rare disease become a reality. Only a small percentage of people living with a rare disease have an approved therapy for their condition, presenting a great challenge to global health....
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Medicines repurposing gains traction as help is made available to researchers and clinicians
Many clinicians are turning to existing medicines to find a treatment for their patients. This type of clinic-led drug repurposing is vital to the rare disease community, but the route to success is often challenging. While rare disease knowledge within the medical profession is limited, some clinicians manage multiple people living with a rare condition....
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Help rare disease patients by involving them at every stage of development
Inclusion of the ‘patient voice’ is critical at all stages of research and drug development, starting from clinical trial design, through the regulatory processes — and during access discussions. A small or rare patient population can affect clinical trial recruitment and slow down the development of medicines. Data generation We should explore alternative study designs,...
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How cell and gene therapy offers hope to patients with rare ophthalmic diseases
Patients impacted by inherited retinal diseases — a group of rare genetic eye conditions — have had limited treatment options. Now cell and gene therapy offers them new hope.1,2 Inherited retinal diseases (IRDs) are rare genetic eye conditions which all have one thing in common: they affect people in different, debilitating and ultimately devastating ways. ...
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Gene therapies offer hope to the rare disease community – but how do we pay for them?
Gene therapies are a promising treatment option for people with rare diseases living with genetic conditions. However, pricing remains an issue. Payment solutions must be identified to ensure gene therapies are available to those who need them. Since the majority of rare diseases have genetic causes, it is encouraging that there are around 150 ongoing...
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Partnership simplifies and accelerates operational distribution of rare disease treatments
Specialist innovator drug companies with novel treatments for rare diseases can benefit from partnering with expert service providers who focus on managing the regulatory and supply chain complexity of distribution operations. Expert distribution partners provide services to their specialist drug company clients, managing the complexities and removing the overheads but enabling the client to maintain...
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Shaping a better future for people living with sickle cell disease in the UK
While referred to as ‘rare’ due to the smaller size of individual patient populations, rare diseases collectively are common, with 1 in 17 people affected.1 Rare disease communities are underserved, with only 5% of rare diseases having available treatment options.2 On Rare Disease Day 2023, we shine a light on one of those rare conditions, Sickle Cell Disease...
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The promise and evolution of cell and gene therapies for rare diseases
In recent years, cell and gene therapies have experienced tremendous growth with an increasing number of products receiving regulatory approvals. Cell and gene therapies — which encompass cell transplants — and genetic modifications and gene-editing of cells represent a significant paradigm shift in the treatment of rare diseases due to their unprecedented effectiveness and curative...
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Living with a rare disease doesn’t mean you have to struggle alone
Nikki Lilly shares her experiences living with the rare disease arteriovenous malformation (AVM) and how she helps raise awareness. Q: What are your interests/passions? NL: I started making videos online when I was eight, to cope with everything and find new interests and hobbies. I found such a love and passion for making videos online....
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Benefits of collaborative care for people living with rare conditions
Collaborative care is essential for people living with rare conditions and their families to minimise the impact of health appointments. It will help healthcare professionals to work together effectively and provide high-quality care. Many rare conditions are lifelong and complex. People affected by rare conditions need support and expertise from a range of healthcare professionals...
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Advancing health equity to improve the lives of people with rare diseases
For many of the roughly 7,000 identified rare diseases, those who are diagnosed are one in a million. Health equity is needed to improve the lives of people with a rare disease. In the United States, for a disease to qualify as rare, it must affect less than .06% of the population. Living with a...
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UK genomics can transform the lives of people living with rare diseases
Many rare diseases have a genetic origin, so genomics — the study of a person’s genetic sequence — has the potential to reduce this timeline through quicker diagnosis and greater access to testing. Patients with rare diseases often face an unpredictable journey known as the ‘diagnostic odyssey.’ When considering that the average process towards a...
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A global community demands visibility for people with a rare disease
People living with a rare condition experience a kind of invisibility which exacerbates inequity, discrimination and injustice. Imagine a community of over 300 million people fighting to be seen. On Rare Disease Day 2023, Rare Diseases International (RDI), a global network of rare disease organisations, has a simple call to action: that the world sees...
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Patient-led advocacy can lead to better rare disease policies
Broad patient advocacy fosters change that translates the newest research into practice and nurtures partnerships within the rare disease sector. Meeting a policymaker and presenting a case for why they should take action is not only a form of direct patient advocacy. It is also a way to ensure policymakers see each rare disease patient...
