Rare Diseases Q3 2022
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The rare disease community are in need of improved mental health support
Our study of the mental health of people affected by rare conditions – either as patients or those who care for them – showed that more than 9 of 10 had felt anxious or depressed, and several have had suicidal thoughts. Yet the majority had never been asked by healthcare professionals about their mental health....
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Injecting hope and funding into the search for rare disease treatments
We aim to support academics, charitable organisations and other institutions to transform their ideas into tangible solutions. Medicine R&D is difficult and takes a long time. With licensed medicines only available for around 500 of the 7,000 rare diseases, turning ideas into treatments for rare and ultra-rare diseases is even harder because of the lack...
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Providing patients with adequate and timely diagnosis
Over half of rare disease patients wait over two years for their diagnosis,1 with half of all patients receiving at least one misdiagnosis. A rare disease is not just life-changing for patients but also their families and loved ones. For more than 30 years, patients and families affected by rare diseases have been our inspiration...
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Championing the voices of people living with rare conditions
Around 3.5 million people are living with rare, genetic and undiagnosed conditions in the UK. Their voices must be heard loud and clear when strategic directions and priorities for rare diseases are being set by policymakers. While rare, genetic and undiagnosed conditions are individually rare, around 3.5 million people living with these conditions in the...
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Licence outsourcing has numerous benefits for rare disease patients
Partnerships between niche drug companies and healthcare supply organisations are speeding up the process of getting essential drugs to patients with rare diseases. By supporting small drug firms to navigate the licencing process to the wider marketplace after regulatory approval has been granted, logistics firms are helping innovative drug developers with significant cost savings in...
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Driving real progress in rare disease
Understanding rare diseases Each person diagnosed with a rare disease has a unique experience and story to tell. However, with over 7,000 rare diseases currently identified, these patients collectively form a significant group that often has unmet needs.1 Recognising the experiences of these patients and those who care for them is essential in order to...
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New HAE guidelines set more advanced standards for patients
Over recent years, there has been an increased level of research and development into the rare genetic condition hereditary angioedema (HAE). As a result of heightened research, there are more HAE treatment options available that can help to both prevent and control the disorder. The severity of HAE “People with HAE are prone to attacks...
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Patients finding alternative ways to access treatment for rare diseases
Living with a rare disease can be particularly challenging; from getting the right diagnosis to finding and accessing treatment that works. It’s estimated there are around 7,000 rare diseases, and only 10% have treatments available. This means that most people living with a rare disease — defined by the NHS as a long-term debilitating condition...
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How AI tech is helping join the dots for earlier rare disease diagnosis
Algorithms can scan through anonymous patient data to help clinicians to discover those who may be at risk of having a rare disease. It could significantly speed up the diagnostic process. Why can early diagnosis of rare diseases be a challenge? Christopher Rudolf, Founder and CEO, Volv Global SA: Finding patients with rare diseases is...
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New strategies must be used to define fair price for orphan drugs
A ‘pay for performance’ model should be adopted for rare disease drugs, with pricing adjusted as evidence of real-world effectiveness becomes available. Across Europe, agencies that decide on reimbursement for drug development — such as NICE in the UK — want assurance that any new therapies will deliver good health value for patients and good...
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Inviting patients as equal partners in the drug development process
Greater patient engagement in rare disease drug development is not just a ‘nice to have.’ Naomi Litchfield, Global Patient Advocacy Lead at contract research organisation Bionical Emas, who specialise in facilitating clinical development of new treatments for rare diseases, says: “Positive patient engagement is a crucial part of the drug development process.” Creating connections As...
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Transforming care for rare diseases around the world
History was made at the United Nations (UN) with the adoption of a General Assembly Resolution on “persons living with a rare disease and their families. Advocating for the right to health Civil society groups are now turning their attention to how this groundbreaking text can help transform care for rare diseases. In recent years,...
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War on two fronts: leveraging a rare disease in Ukraine
Ukrainians with rare diseases often rely on luck to live. Even those with debilitating symptoms and limited mobility with the most urgent needs are unable to access essentials. An estimated two million people are living with a rare disease in Ukraine. Many of the 6,000 rare conditions are often disabling and frequently life-threatening, even in...
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Rare diseases: making a difference through education
For a majority of the estimated 300 – 400 million patients worldwide living with a rare disease,2 the challenge begins with the diagnostic process, which can sometimes last decades. This equates to over 3.5 million people in the UK.3 To reduce the diagnostic and treatment delay that exists for many rare diseases, education is crucial....
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Anticipating a new era of rare disease innovation, driven by patients
The events of the past couple of years have forced us all to think and act differently in many aspects of our lives. For those living with rare diseases this has long been the norm. Since the start of the pandemic, we’ve come to appreciate the importance and urgency of innovation in facing critical health...
Health Awareness
