Rare Disease Day Spotlight edition – Innovation and research
Rare Disease Day Spotlight edition – Innovation and research. We are so pleased to bring you our Rare Disease Day 2022 Special Edition! The theme is innovation and research and is a celebration of just some of the amazing work taking place in the RARE community.
We would like to thank Alexion, who have partnered with us on this very special project. We would also like to thank all the contributors who so generously gave their time and insight to raise the profile of rare disease and share their RARE journey.
https://bit.ly/RDD-innovation-research
Editors welcome
https://bit.ly/RDD-EditorsWelcome
Unlocking new frontiers in rare disease treatment
Link: https://bit.ly/RDD-NewFrontiers
Since the integration of Alexion into AstraZeneca last year, it has opened up new doors to better understand rare diseases and identify new treatments, thanks to access to new platforms, technologies, capabilities and scientific expertise. Alexion continues to be a pioneer in the rare disease space, and is dedicated to producing even better medicines to transform the lives of rare disease individuals around the world.
Twitter:
The integration of Alexion into AstraZeneca has opened up new doors to better understand #RareDiseases and identify new treatments. Alexion continues to be a pioneer in the #RareDiseaseSpace and is dedicated to producing improved #medicines for the #RareDiseaseCommunity
Great things are possible, when the journey to research is a shared one
Link: https://bit.ly/RDD-SoftBones-research
Before Soft Bones, there were no organisations for families affected by hypophosphatasia in the US. As they approach their 13th anniversary, Deborah Fowler, president and founder of Soft Bones, shares with us how the company went from a ground zero patient support charity to setting a standard for other organisations on how to embed the voice of the patient community into innovative research.
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Deborah Fowler, president and founder of Soft Bones, shares with us how the company went from a ground zero #PatientSupport charity to setting a standard for other organisations on how to embed the voice of the #PatientCommunity into #InnovativeResearch
Data innovation in rare disease registries
Link: https://bit.ly/RDD-DataInnovation
The collection of standardised, real-world data through a registry is a critical tool in the healthcare industry to advance scientific research for symptom management, treatments and even cures. For many healthcare registries, there is a wide net of potential patients from which data can be extracted and analysed, but what about rare diseases? How do rare disease communities accumulate enough real-world data to make change happen? Nina Liu and Daniel Lewi from Pulse Infoframe explain.
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The collection of #RealWorldData through a registry is a critical tool in the #HealthcareIndustry to advance #ScientificResearch. Nina Liu and Daniel Lewi from PulseInfoframe explain how even the smallest #RareDiseaseCommunities accumulate enough #RWD to make change happen
True multi-stakeholder collaboration: meeting the collective need
Link: https://bit.ly/RDD-MultiStakeholderCollaboration
We spoke with Mario A. Battaglia, president of the Italian Multiple Sclerosis Society Foundation, which focuses on research, and CEO of the Italian Multiple Sclerosis Society, a
patient-support organisation, who shared with us his story of success in setting up a central multiple sclerosis registry in Italy and their winning formula of involving all stakeholders from the outset.
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Mario A. Battaglia, president of the Italian Multiple Sclerosis Society Foundation and CEO of the Italian Multiple Sclerosis Society, shares his story of setting up a central #MultipleSclerosis #PatientRegistry and their winning formula of involving stakeholders from the outset
Financing innovative precision medicines – a fine balancing act
Link: https://bit.ly/RDD-FinancingPrecisionMedicines
In this era of fast-paced scientific development, new groundbreaking therapies are giving people with rare and genetic diseases hope for treatments, where previously there was none. However, these innovative therapies can come with staggering prices that much of the community simply cannot afford. We spoke to Sheela Upadhyaya, rare diseases & RAPID-C19 strategic advisor at the National Institute for Health and Care Excellence (NICE), about the barriers payers face in financing medication and what stakeholders can do to ensure therapies are more affordable and accessible.
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We spoke to Sheela Upadhyaya, #RareDiseases & RAPID-C19 strategic advisor at NICE about the barriers payers face in financing #RareDisease medication and what stakeholders can do to ensure therapies are more affordable and accessible
Out of the darkness
Link: https://bit.ly/RDD-OutoftheDarkness
Bringing together rare disease organisations from across the world who share common challenges and goals is key to improving the health and quality of life of the community. We spoke to Flaminia Macchia, executive director of Rare Diseases International, who discusses their vision and momentous achievement in driving policy change at a global level with the UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease and their Families.
Twitter:
We spoke to Flaminia Macchia, executive director of #RareDiseasesInternational who discusses their vision and achievement in driving policy change at a global level with the #UNResolution on Addressing the Challenges of Persons Living with a #RareDisease and their Families
Rare 2030: Foresight in Rare Disease Policy: Social care and its integration into care coordination
Link: https://bit.ly/RDD-Rare2030
To better understand how Rare 2030’s chosen scenario, investment for social justice, will help integrate much-needed social care for the European rare disease community, we spoke to Anna Kole, public health policy director at Eurodis and Rare 2030 lead.
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To better understand how Rare 2030’s chosen scenario, ‘investment for social justice’, will help integrate much-needed #SocialCare for the #EuropeanRareDiseaseCommunity, we spoke to Anna Kole, public health policy director at Eurodis and #Rare2030 lead
With great power comes great responsibility: Exploring genome sequencing in newborns
Link: https://bit.ly/RDD-NewbornSequencing
Genomics is a fast-growing science that has the potential to significantly alter the speed and efficiency with which rare diseases are diagnosed. As with all new technologies, it carries a
responsibility to fully explore all facets and how it will translate the real world. RARE
Revolution spoke to Simon Wilde, director of engagement at Genomics England, to learn more
about their ambitious programme exploring the potential for introducing whole genome sequencing to newborn screening in the UK.
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RARE Revolution spoke to Simon Wilde, director of engagement at Genomics England, to learn more about their ambitious programme exploring the potential for introducing #WholeGenomeSequencing to #NewbornScreening in the UK
APPG for rare, genetic and undiagnosed conditions: providing invaluable insights from the rare disease community to guide decision-making
Link: https://bit.ly/RDD-RARE-APPG
Liz Twist, MP for Blaydon in the north-east of England, and chair of the APPG for rare, genetic and undiagnosed conditions since 2020, explains how the APPG advocates on behalf of the rare disease community in parliamentary activities to ensure patients and families have access to appropriate care and support. Liz discusses the importance of providing a platform for the patient voice to ensure the unmet needs of the community are heard and lasting change in the rare disease space can be made.
Twitter:
We spoke with Liz Twist, MP for Blaydon in the north-east of England, and chair of the #APPG for rare, genetic and #Undiagnosed conditions, who explains how the APPG advocates on behalf of the #RareDiseaseCommunity in parliamentary activities for quality care and support
The UK Rare disease action plan
Link: https://bit.ly/RDD-UKActionPlan
Since the Department of Health and Social Care (DHSC) published the UK Rare Diseases Framework in January of 2021, setting out the priorities and underpinning themes for the UK to follow to improve the lives of those with a rare disease, the DHSC, along with UK administrations, are now working on the next stage of the process: a nation-specific approach, as well as ensuring health equity across the UK.
Since the #DHSC published the #UKRareDiseasesFramework in January 2021, setting out the priorities and underpinning themes for the UK to follow to improve the lives of those with a rare disease, the DHSC, along with UK administrations, are now working on the next stage…
