Abstract
Patient advocacy organisations (PAOs) are increasingly involved in biomedical science and pharmaceutical research and development because of scientific advances and growing attention to rare diseases. They have traditionally focused on advocating for their patient community and providing practical support to individuals and families as they cope with everyday life with their rare disease. PAOs can also make valuable contributions to research, such as formulating study designs, setting research priorities, stimulating biological sampling/data collection, and fund-raising. Here, we highlight the two most active PAOs for people living with ring chromosome (RC) disorders: Ring14 and Ring20 are driven by passion and a desire to improve quality of life and treatment outcomes for all affected children, their families, and caregivers.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Azzali S, DeWoody Y, Rinaldi B, Crimi M (2015) Ring14 international: Development of a national-based patient association towards a “global” network initiative to fight a chromosomal disorder. J Genet Disor Genet Rep 4:2. https://doi.org/10.4172/2327-5790.1000124
Cazzaniga A, Plebani M, Crimi M (2022) Genome access and other web-based IT solutions: Genetic counseling in the digital era. Front Public Health 10:1035316. https://doi.org/10.3389/fpubh.2022.1035316
Gadd C (2012) European Medicines Agency, Professionalisation and representativeness among civil society representatives. Available at: http://www.ema.europa.eu/docs/en_GB/document_library/Presentation/2012/05/WC500127916.pdf
House T, O’Donnell K, Saich R, Di Pietro F, Broekgaarden R, Muir A, Schaller T (2019) The role of patient advocacy organizations in shaping medical research: The Pompe model. Ann Transl Med 7(13):293. https://doi.org/10.21037/atm.2019.04.28
Kim T, Plona K, Wynshaw-Boris A (2017) A novel system for correcting large-scale chromosomal aberrations: Ring chromosome correction via reprogramming into induced pluripotent stem cell (iPSC). Chromosoma 126(4):457–463. https://doi.org/10.1007/s00412-016-0621-6
Koay PP, Sharp RR (2013) The role of patient advocacy organizations in shaping genomic science. Annu Rev Genomics Hum Genet 14:579–595. https://doi.org/10.1146/annurev-genom-091212-153525
Landy DC, Brinich MA, Colten ME, Horn EJ, Terry SF, Sharp RR (2012) How disease advocacy organizations participate in clinical research: A survey of genetic organizations. Genet Med 14(2):223–228. https://doi.org/10.1038/gim.0b013e3182310ba0
Mavris M, Le Cam Y (2012) Involvement of patient organisations in research and development of orphan drugs for rare diseases in Europe. Mol Syndromol 3(5):237–243. https://doi.org/10.1159/000342758
Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H (2015) The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet 23(9):1116–1123. https://doi.org/10.1038/ejhg.2014.272
Nguyen CQ, Alba-Concepcion K, Palmer EE, Scully JL, Millis N, Farrar MA (2022a) The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: A narrative review. Orphanet J Rare Dis 17(1):167. https://doi.org/10.1186/s13023-022-02317-6
Nguyen CQ, Kariyawasam D, Alba-Concepcion K, Grattan S, Hetherington K, Wakefield CE, Woolfenden S, Dale RC, Palmer EE, Farrar MA (2022b) Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics. Health Expect 25(6):3175–3191. https://doi.org/10.1111/hex.13625
Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M (2017) Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force. Orphanet J Rare Dis 12(1):69. https://doi.org/10.1186/s13023-017-0606-4
Smith J, Damm K, Hover G, Chien J (2021) Lessons from an experiential approach to patient community engagement in rare disease. Clin Ther 43(2):421–429. https://doi.org/10.1016/j.clinthera.2020.12.002
Stein S, Bogard E, Boice N, Fernandez V, Field T, Gilstrap A, Kahn SR, Larkindale J, Mathieson T (2018) Principles for interactions with biopharmaceutical companies: The development of guidelines for patient advocacy organizations in the field of rare diseases. Orphanet J Rare Dis 13(1):18. https://doi.org/10.1186/s13023-018-0761-2
Vaisfeld A, Spartano S, Gobbi G, Vezzani A, Neri G (2021) Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma. Epilepsia 62(1):25–40. https://doi.org/10.1111/epi.16754
Zampini L, Zanchi P, D’Odorica L (2014) Developing with ring 14 syndrome: A survey in different countries. Clin Linguist Phon 28(11):844–856. https://doi.org/10.3109/02699206.2014.911963
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2024 The Author(s), under exclusive license to Springer Nature Switzerland AG
About this chapter
Cite this chapter
Crimi, M., Watson, A. (2024). Advocate Activities and Patient-Centred Approaches. In: Li, P., Liehr, T. (eds) Human Ring Chromosomes. Springer, Cham. https://doi.org/10.1007/978-3-031-47530-6_4
Download citation
DOI: https://doi.org/10.1007/978-3-031-47530-6_4
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-031-47529-0
Online ISBN: 978-3-031-47530-6
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)