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Orphanet website UK entry point

Orphanet United Kingdom
Orphanet international services
  • An inventory and classification of rare diseases
  • An encyclopaedia
  • A directory of services: clinics, laboratories, research projects, registries, clinical trials, patient organisations
  • An inventory of orphan drugs
  • Guidelines, reports
  • A newsletter
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Welcome to the Orphanet UK national website!


This page presents the news, events and documents of national significance. You can also:


To access all information on rare diseases, orphan drugs and expert services visit the main Orphanet portal (



News in the UK

Sickle Cell Society Supports Publication of NICE Quality Standard

The Sickle Cell Society supports the publication of the National Institute of Health and Care Excellence (NICE) new quality standard for care and support for people experiencing sickle cell acute painful episodes.


The new standard outlines how healthcare professionals should manage the care of individuals suffering from a sickle cell acute painful episode in hospital, so that patients have a positive experience and receive high quality treatment. The new standard focuses on the administration of pain relief in a timely manner, for patients to be checked for acute chest syndrome and for healthcare professionals to have access to locally agreed protocols and specialist centres.


The Society consulted with patients and carers to advise NICE on the new quality standard. The Society believes the standard is an important tool for all healthcare professionals to ensure the quality of service for sickle cell patients is consistent throughout the NHS. We believe the new standard should be rigorously applied by all NHS Commissioners and healthcare providers. We hope the NICE quality standard will become a compulsory part of the clinical pathways for sickle cell disorders.


The Sickle Cell Society’s CEO, John James, has said, “The Society fully supports the new NICE quality standard. We will continue to work with patients and carers to ensure that the new quality standard is consistently applied. We will also work to ensure all NHS Commissioners and hospital providers apply and follow the standard. We want the patients and carers to be at the centre of care provided by the NHS and the new standard is a step closer in achieving this.”


If patients and carers have any comments about the new standard, or would like to share their experiences with the Society, they can email



For more information, contact Rabiah Hussain 0208 963 7794




UK Strategy for Rare Diseases- NHS England releases Statement of Intent

NHS England released details of implementation plans for the first UK strategy for rare diseases, which was published by the Department of Health in 2013. In a Statement of Intent, NHS England sets out how it will deliver commitments from the strategy and develop services for rare diseases within the new framework for specialised services.

The UK Strategy for Rare Diseases contained a total of 51 commitments which all four countries have agreed to achieve by 2020. This is the first strategy of its kind, aiming to help build an understanding of rare diseases and boost research in this important area of healthcare.

Key elements of the strategy include:
•   Personal care plans for patients, bringing together health and care services, with more support for patients and their families;
•   Support for specialist clinical centres offering better care and support;
•   Better education and training for health professionals to help ensure earlier diagnosis and access to treatment;
•   Promotion of the UK as a world leader in research and development in this field.

The statement confirms increased representation of patients on the Clinical Reference Groups for specialised services, as well as the Rare Disease Advisory Group, where their views will be accounted to “improve and build upon patient involvement in rare disease service provision”. The statement also affirms the commitment of NHS England to providing education and training for health professionals so that they are well equipped to provide faster and accurate diagnosis as well as access to specialised services to patients. This includes “piloting and evaluation of ‘expert systems’ to support recognition and diagnosis of rare diseases, such as a computerised prompt service to help GPs to help GPs recognise potential rare disease symptoms”

Additionally, Public Health England (PHE), who are building a national rare disease register with NHS England, have emphasised “the success of the recently expanded NHS Newborn Blood Spot Screening programme in diagnosing the rare metabolic disorder MCADD; potential expansion of the programme to include more rare disorders is being piloted”. 

England, Scotland, Wales and Northern Ireland released their plans for implementation of the UK rare diseases strategy by 28 February 2014 and held receptions in partnership with Rare Disease UK. A draft form of the Welsh Implementation Plan for Rare Diseases is currently open for consultation. *

Read the Rare Disease Statement of Intent



News Updates from the BPSU (British Paediatric Surveillance Unit) 


The British Paediatric Surveillance Unit (BPSU) enables doctors and researchers to find out how many children in the UK and Republic of Ireland are affected by particular rare diseases or conditions each year.

The Unit was set up in 1986. It is a joint initiative of the Royal College of Paediatrics and Child Health (RCPCH), Public Health England (PHE) and the Institute of Child Health (ICH) to support research into rare childhood disorders


BPSU hosts rare disease day tea party: On 20 March 2014 the BPSU, in collaboration with Rare Disease UK and the RCPCH Youth Advisory Panel, held an event to mark Rare Disease day 2014 and the UK plan for implementing the UK strategy for rare disease. Over 100 people attended the event including patients and carers, healthcare professionals, researchers  and policy-makers. All were united by the theme of the day ‘Joining together for better care’. A podcast was unveiled by the Youth Advisory Panel on living with a rare disease. 


Dr Richard Reading appointed as new Chair of the BPSU:  Dr Richard Reading – a community paediatrician at Norfolk and Norwich Hospital, will be taking over from the outgoing Chair Professor Alan Emond. He has previously been a BPSU committee member and has undertaken several BPSU facilitated studies. A full article can be found on the BPSU winter bulletin.


Surveillance of Acute Symptomatic Infectious Hepatitis in Hospitalised Children in the UK and ROI is due to commence:   A new study led by Dr Shamez Ladhani (of Public Health England) aims to assess the burden of childhood hospitalisations for symptomatic acute infectious hepatitis, looking at clinical characteristics, investigations, aetiology, management and short-term as well as long-term outcomes. For more information about this study see  


Surveillance of Kawasaki Disease (complete and incomplete) to continue in UK and Ireland:   The last BPSU survey of Kawasaki disease, the commonest cause of aquired heart disease in children in the UK, was in 1990 and since that time there has been increased awareness of the condition and treatment protocols. For more information please visit the RCPCH webpage.



News on Orphanet

Orphanet collaborates with START to enrich its encyclopedia with information on cancers

START is a state-of-the-art instrument to support clinical oncologists and physicians in their everyday oncology practice. It is a service provided by Alleanza Contro il Cancro (“Alliance against cancer”), under the auspices of the Italian Health Ministry. START articles, displayed into chapters, provide evidence-based information of current clinical approaches to human tumors. They are written by European experts, internally and externally reviewed, and regularly updated. Each chapter is available in English and some of them are also translated in Italian. In addition, some chapters dedicated to a more general audience (‘public area’) have been adapted in Italian. 

START chapters can now be accessed on Orphanet through links made in the “detailed information” section at the bottom of the corresponding disease pages.*
To know more about START


UK and Ireland are recruiting Post-validators for Research Activities within the Patient Organisation community

UK/Ireland patient organisations and funding bodies registered on Orphanet can now contribute to review Orphanet’s content for research activities (in the UK and Ireland) by becoming Post-validators.

Post-validators check regularly the activities/services linked to the disease(s)/group(s) of diseases of their field of expertise and report to the national team any missing activity/service or incorrect information. This can be done by email or by using an online form available at or> Register online & more -> “Report missing / incorrect information regarding research activities”.

To become a Post-validator, organisations need to be registered on Orphanet and be active and easily contacted. An application form is available at or -> Patient organisations -> “Become a Post-validator”. This is a voluntary collaboration and any organisation can opt-out at any time.

The initiative has been welcomed by the patient organisation community and the new recruited post-validators are already reporting missing and incorrect information. Further, many are endorsing clinics that are missing from Orphanet but have offered their group members a fast and accurate diagnosis and/or an excellent care and treatment of their condition. The list of recruited Post-validators to-date is available at or>Registries, Biobanks and Research Projects -> “Post-validators”.



  The Orphanet Mobile app: six months after its release 


The Orphanet mobile application, freely available for iPhone and iPad, gives access to the main Orphanet services without any Internet connection and in 6 languages (English, French, German, Italian, Portuguese and Spanish): access a list of rare diseases with their description and associated resources as epidemiological and coding data (OrphaCode and ICD-10); consult the Emergency guidelines PDFs; find contact details of expert centres and professionals dedicated to rare diseases in the 37 counties of the Orphanet consortium. The application allows bookmarking of favorite pages and PDFs to find them back in one click in the “My Orphanet” section. In addition, pages can be annotated or sent by email. Updated every month, the Orphanet application has already been downloaded 4,000 times since its launch on last Rare Disease Day. The second version of the app, providing a dedicated iPad version, was launched in June. This version reached the top10 of apps in the medical area in several countries. The application is getting more and more popular and was warmly welcomed by the professionals and patients.*


*Source: OrphaNews Europe

Last update: 16/04/14

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Legal noticeContact us — Last updated on: 14-04-16