Rare Disease Day - 28th February 2025

 Rare Disease Day takes place every year on 28 February (or 29 February in leap years) – the rarest day of the year.  It is a global movement aimed at working towards equity in social opportunity, healthcare and access to diagnosis and treatment for all those living with a rare disease. According to rarediseaseday.org, a disease is classified as rare if it affects fewer than 1 in 2,000 people.  There are estimated to be over 300 million people worldwide living with a rare disease with 72% of such diseases being genetic.

RELATED LIBRARY RESOURCES  

The Health Libraries, both at the Royal Stoke and County Hospitals, offer numerous resources related to this topic. In the lists below you’ll find a small selection of items from our collection. To locate these items, simply go to our online catalogue or ask at the counter. This document covers the following resources – books, journals, journal articles and patient information.

 

BOOKS   

• Patient: the story of a rare illness; Wyatt, Ben; 2014 (Viking) – part of our Patient Voices Collection.

• Genome Finland: From Rare Diseases to Data Economy; Ilpo, Helén; 2024 (Helsinki University Press) – [only available online as an Open Access e-book]

• Fast Facts: Acute Lymphoblastic Leukemia; Wrench, Bela R., author.; Austin, Michael J; Castleton, Anna Z; 2022 (S. Karger AG); 1st edition – [only available online as a Keele e-book]

• Critical Issues in Head and Neck Oncology: Key Concepts from the Seventh THNO Meeting; Vermorken, Jan B; Budach, Volker; et al; 2021 (Springer Nature); 1st edition – [only available online as an Open Access e-book]

• Fast Facts: Blastic Plasmacytoid Dendritic Cell Neoplasm: Shedding light on a rare disease; Deconinck, Eric; 2021 (S. Karger); 1st edition – [only available online as a Keele e-book]

• New clinical genetics; Read, A. F; Donnai, D; 2020 (Scion Publishing); 4^th edition – [also available online as a Keele e-book]

• Essentials of medical genetics for nursing and health professionals: an interprofessional approach; Gunder McClary, Laura M; 2020 (Jones & Bartlett Learning)

• Diagnosis and Treatment of Rare Gynecologic Cancers; Fumovitz, Michael; 2023 (Elsevier Inc) – [only available as an e-book for UHNM users via Clinical Key with an OpenAthens password]

• Rare and Interstitial Lung Diseases; Sorino, Claudio; 2025; (Elsevier Inc) - [only available as an e-book for UHNM users via Clinical Key with an OpenAthens password]

 JOURNALS   

• Therapeutic advances in rare disease; (Sage) – [available as an Open Access e-journal from 2020 onwards]

• Journal of rare diseases (Berlin, Germany); Egyptian Medical Association, sponsoring body; (Springer) – [available as an Open Access e-journal from 2022 onwards]

• Rare (Amsterdam, Netherlands); Undiagnosed Diseases Network International, issuing body; (Elsevier B.V.) – [available as an Open Access e-journal from 2023 onwards]

• Orphanet journal of rare diseases; (BioMed Central) – [available as an Open Access e-journal from 2006 onwards]

• Genes & diseases; Chongqing yi ke da xue; (Chongqing Medical University) – [available as an Open Access e-journal from 2014 onwards]The application of clinical genetics; National Library of New Zealand; (Dove Medical Press) – [available as an Open Access e-journal from 2008 onwards]

Access more journals via our Journals webpage: http://www.keele.ac.uk/healthlibrary/find/journals/

  

JOURNAL ARTICLES  

• “Precision medicine in rare diseases: What is next?”; Tesi, Bianca; Boileau, Catherine; Boycott, Kym M; et al; Journal of internal medicine, 2023-10, Vol.294 (4), pp.397-412; DOI: 10.1111/joim.13655

• “Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases”; Wang, Chiuhui Mary; Whiting, Amy Heagle; Rath, Ana; Anido, Roberta; et al; Orphanet journal of rare diseases, 2024-09, Vol.19 (1), pp.334-6, Article 334; DOI: 10.1186/s13023-024-03322-7

• “Invisible patients in rare diseases: parental experiences with the healthcare and social services for children with rare diseases. A mixed method study”; Domaradzki, Jan; Walkowiak, Dariusz; Scientific reports, 2024-06, Vol.14 (1), Article 14016; DOI: 10.1038/s41598-024-63962-4;

• “Rare disease 101: an online resource teaching on over 7000 rare diseases in one short course”; Dunne, Thomas Frederick; Jeffries, Daniel; Mckay, Lucy; Orphanet journal of rare diseases, 2024-07, Vol.19 (1), p.275-10, Article 275; DOI: 10.1186/s13023-024-03286-8

• “Real-world evidence for coverage determination of treatments for rare diseases”; Dayer, Victoria W; Drummond, Michael F; Dabbous, Omar; Orphanet journal of rare diseases, 2024-02, Vol.19 (1), Article 47, DOI: 10.1186/s13023-024-03041-z

• “Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases”; van Karnebeek, Clara D M; O'Donnell-Luria, Anne; Baynam, Gareth; et al; Orphanet journal of rare diseases, 2024-09, Vol.19 (1), Article 357; DOI: 10.1186/s13023-024-03361-0

• “Carer reported experiences: Supporting someone with a rare disease”; McMullan J, Crowe AL, Downes K, McAneney H, McKnight AJ.. Health and Social Care in the Community. 2022, Vol. 30 (3), pp.1097-1108. DOI: 10.1111/hsc.13336.

•  “Needs of informal caregivers of people with a rare disease: a rapid review of the literature.”; Mcmullan J.; Lohfeld L.; McKnight AJ.; BMJ Open, 2022, Vol. 12 (12), Article e063263. DOI: 10.1136/bmjopen-2022-063263.

• “Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey.”; Jones J.; Cruddas M.; Simpson A.; et al;  Orphanet journal of rare diseases, 2024, Vol. 19 (1), Article 77. DOI: 10.1186/s13023-024-03081-5.

N.B. All the above articles are Open Access so are available online to both Keele & NHS users.

 PATIENT INFORMATION / PATIENT ADVICE:  

• NHS website:
• Genetic Testing - https://www.nhs.uk/conditions/genetic-and-genomic-testing/
• Screening in newborns - https://www.nhs.uk/conditions/baby/newborn-screening/blood-spot-test/

• NHS Inform (Scotland) – Rare Conditions  https://www.nhsinform.scot/illnesses-and-conditions/rare-conditions/

• Charities / Further information:
• Rare Disease Day - https://www.rarediseaseday.org/

• Clinical Key – Patient Education Leaflets [Available to UHNM only with OpenAthens log-in]:
• Genetic counselling - https://www.clinicalkey.com/#!/content/patient_handout/5-s2.0-pe_3aab5e17-9061-4c2d-9a92-ae7f489ff7f7

 

KnowledgeShare CURRENT AWARENESS:   

KnowledgeShare Evidence Updates is a personalised current awareness service which sends, straight to your email inbox, new evidence on topics tailored to your requirements and collated by Health Librarians. For more information, or to register for KnowledgeShare please go to https://www.keele.ac.uk/healthlibrary/find/currentawareness/.