Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Austin, Christopher P.; Cutillo, Christine M.; Lau, Lilian Pek Lian; Jonker, Anneliene Hechtelt; Rath, Ana; Julkowska, Daria; Thomson, David; Terry, Sharon F.; Montleau, Béatrice de; Ardigò, Diego; Hivert, Virginie; Boycott, Kym M.; Baynam, Gareth; Kaufmann, Petra; Taruscio, Domenica; Lochmüller, Hanns; Suematsu, Makoto; Incerti, Carlo; Draghia-Akli, Ruxandra; Norstedt, Iréne; Wang, Lu; Dawkins, Hugh

doi:10.1111/cts.12500

Cited by 182 publications

(158 citation statements)

References 22 publications

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“…The average diagnostic odyssey faced by a patient is about 7 years, and only a small fraction of rare diseases have any therapy approved by a regulatory body. Thus, to change the narrative around rare diseases as inherently untreatable or even unimportant, IRDiRC announced a new vision in 2017 that would “Enable all people living with a rare disease to receive an accurate diagnosis, care and available therapy within 1 year of coming to medical attention”—along with three 10‐year goals for the Consortium to make substantial progress toward this vision (Austin et al , ). IRDiRC works in multiple dimensions to generate knowledge, ethically share research data, promote collaborative research infrastructures, and de‐risk investment in rare diseases research.…”

Section: Irdirc and Its Collaborative Effortsmentioning

confidence: 99%

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

et al. 2019

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Rare diseases, which affect over 350 million people worldwide and frequently go undiagnosed or misdiagnosed for years, suffer from sparse and dispersed medical knowledge leading to even rarer approved and effective therapeutic options for patients. A vast, unmet need for research and investment to advance diagnostic capabilities and therapeutic development must be confronted, despite the myriad of challenges faced. Several fundamental shifts are changing the landscape of rare diseases research and development, particularly with the application and extension of results to common diseases and the advancement of personalized medicine initiatives. Collaborative strategies that pool resources and knowledge are vital, including team science, research networks, novel funding models, shared knowledge platforms, and innovative regulatory frameworks. Importantly, patients are also increasingly involved as research partners and funders, pushing for open science and transparency, and breaking down data silos and geographical borders, often enabled by online platforms accessible from across the globe. The International Rare Diseases Research Consortium ( IRD i RC ), established in 2011, has been working diligently to unify stakeholders (e.g., funding bodies, companies, umbrella patient advocacy groups, researchers, and experts) to seek and drive solutions that aim to accelerate diagnosis and therapeutic development for rare diseases worldwide. Further and future advances will depend on continued collaborations and cooperation among stakeholders, working hand in hand with patients, and exponentially improving research and development efficiency. Critically, engagement with stakeholders from underrepresented populations and less‐developed countries must be prioritized, to enable all people living with a rare disease to receive an accurate diagnosis, care, and therapy.

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Section: Irdirc and Its Collaborative Effortsmentioning

confidence: 99%

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

et al. 2019

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“…This issue of Seminars will have served its purpose if it has encourage the reader to consider other unsolved disorders and the possible approaches to resolve them. This progress will be necessary to help reach the vision of the International Rare Diseases Research Consortium: to enable all people living with a rare disease to receive an accurate diagnosis, care and available therapy within 1 year of coming to medical attention (Austin et al, ).…”

Section: Going Forwardmentioning

confidence: 99%

Unsolved recognizable patterns of human malformation: Challenges and opportunities

2018

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Due to the efforts of the clinical and scientific communities and boosted by recent advances in genetic technologies, we now understand the molecular mechanisms underlying most of the frequent and recognizable human malformation syndromes. However, some well‐established human malformation syndromes remain without a molecular diagnosis despite intensive investigation. This issue of Seminars mines the phenotypic entries in OMIM and estimates that of the documented 2,034 unsolved entries likely to represent a rare genetic disease, only 160 are well‐established and possibly amenable to investigation. This issue also reviews well‐characterized and extensively investigated human malformation syndromes and associations that remain unsolved, including the following: Dubowitz syndrome (MIM 223370%), Hallermann–Streiff syndrome (MIM 234100%), PHACE syndrome (MIM 606519), Oculocerebrocutaneous syndrome (MIM 164180), Aicardi syndrome (MIM 304050%), Gomez–Lopez–Hernandez syndrome and Rhombencephalosynapsis (MIM 601853%), VACTERL (MIM 192350%), and Nablus syndrome (MIM #608156). Possible explanations for their intractability to molecular diagnosis are explored, including genetic and phenotypic heterogeneity, mosaicism, epigenetics, gene–environment interactions, and other non‐Mendelian contributions. Finally, this issue of Seminars presents a path forward for these unsolved rare conditions and suggests a renewed focus on solving amendable OMIM disorders. It is clear that the way forward will require new technologies, global cooperation, and data sharing; these will also be necessary to help reach the vision of the International Rare Diseases Research Consortium (IRDiRC), that is to enable all people living with a rare disease to receive an accurate diagnosis, care and available therapy within 1 year of coming to medical attention.

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“…This scenario is especially challenging, since over 90% of rare diseases do not currently have an approved treatment. 5 This failure to identify potential therapies for rare genetic diseases is not surprising. After all, the long-term goal of rare disease genomic research is first to identify genes to target for prevention and treatment and then to develop and test effective interventions, perhaps over many decades.…”

Section: Precision Can End One Odyssey and Start Anothermentioning

confidence: 99%

What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation

Tabor

Goldenberg

2018

AMA Journal of Ethics

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The goal of this article is to examine the intersections of precision health and rare diseases. Specifically, we propose 3 lessons from the last decade of applying genomics to rare diseases: (1) precision can end one odyssey and start another;(2) precise interventions can exacerbate health disparities and create other ethical dilemmas; and (3) democratization of data will transform research and translation. By studying experiences of patients with rare diseases, researchers, clinicians, and policymakers can anticipate similar challenges in precision medicine and hopefully mitigate potential harms or injustices. Rare Diseases and Precision MedicineMore than 25 million Americans suffer from one of over 7000 rare conditions, 1 each one of which has an incidence of 1 in 200 000 or less. The rarity of these conditions creates challenges, such as convincing agencies and companies to fund development of effective and affordable treatments, provide programmatic support, and facilitate patient interaction and support opportunities. content/uploads/2018/03/ALK-Positive_Outreach-Update_20180315.pdf. Published March 15, 2018. Accessed March 26, 2018. 23. Arbour KC, Riely GJ. Diagnosis and treatment of anaplastic lymphoma kinasepositive non-small cell lung cancer.

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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Cited by 182 publications

References 22 publications

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

Unsolved recognizable patterns of human malformation: Challenges and opportunities

What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation

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