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Rare Disease Day
28 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.
·
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); 4th 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/
·
“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:
o
Genetic Testing - https://www.nhs.uk/conditions/genetic-and-genomic-testing/
o
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:
o Rare Disease Day - https://www.rarediseaseday.org/
·
Clinical Key – Patient Education Leaflets [Available
to UHNM only with OpenAthens log-in]:
o
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/.
What is health
literacy?
In England, more than
4 out of 10 adults (43%) cannot routinely understand health information because
their literacy skills are not good enough. And more than 6 out of 10 adults
(61%) can’t understand health information because their numeracy skills are too
poor.
To communicate well,
anyone working in health care must provide information that can be understood.
This can be written or spoken. It includes information on accessing services as
well as clear medical information. (Health Literacy Toolkit, 2023).
The health library
offers a 1-hour training session, accredited by the Royal Society for Public
Health UK (RSPH), that can be delivered face-2-face or virtually via Teams.
The aims of the
session are:
Session details:
Group options:
Virtual -
This session can be delivered virtually (via Teams) for groups of 12 people or
less. If you have a large team, we can schedule as many sessions as you need.
Classroom –
This session can also be delivered face-to-face for groups of 25 people or
less.
Individuals can
also book onto virtual sessions – just send an email and ask for upcoming
dates.
Contact: Debbie
Wyatt by email to book a session for yourself or your team: debbie.wyatt@uhnm.nhs.uk
Library Search
You can also find some of our e-books alongside print copies in our library catalogue some are for Keele users only but others are available to NHS staff. Access the catalogue here: https://www.keele.ac.uk/healthlibrary/find/librarysearch/
If you haven't got an NHS OpenAthens password you can self-register using your UHNM email address here: https://openathens.nice.org.uk// (there is more help should you need it here: https://www.keele.ac.uk/healthlibrary/training/onlineguidesandsupport/athens/ )
As well as our physical print bookstock, UHNM staff also have access to a wide array of e-books which can be read on line and sometimes downloaded. All you need to access them is an OpenAthens password.
Clinical Key
Besides journal articles there are lots and lots of the latest ebooks available via our subscription to Clinical Key on a wide range of clinical topics. Take a look at our guides to Clinical Key here: https://www.keele.ac.uk/healthlibrary/training/onlineguidesandsupport/clinicalkey/
Kortext
There are around 100 titles on this site on a range of topics including many from the popular "...at a glance" series. Once logged in with OpenAthens type University Hospitals of North Midlands in the institution box and then on the page that comes up click on "collections" next to books and the titles will gradually all appear in an alphabetical list. Click on the images to access the books.
Library Search
You can also find some of our e-books alongside print copies in our library catalogue some are for Keele users only but others are available to NHS staff such as the Oxford Handbooks online collection. Access the catalogue here: https://www.keele.ac.uk/healthlibrary/find/librarysearch/
To help you use and access all our e-books as mentioned above there are further helpful guides on our website here: https://www.keele.ac.uk/healthlibrary/find/ebooks/
