Back to homepage

Orphanet website Ireland entry point

Orphanet Ireland
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
Access these services in:

Welcome to the Orphanet Ireland 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 (www.orpha.net)

 


 

News in Ireland

 

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 www.rcpch.ac.uk/bpsu/aitch.  

 

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.

 


 

IRDiRC delivers a successful and inspiring conference: a common goal emphasised

 

 

The first IRDiRC conference was held on April 16-17 2013 in the charming city of Dublin, Ireland. Thought leaders from all over the world captured the audience with stimulating, inspirational and highly informative talks on the past, present and future of rare disease research. IRDiRC was unanimously hailed as need of the time to advance the cause of rare disease research. IRDIRC promises to contribute in development of 200 therapies for rare disease and means to diagnose all of them by 2020. Rare disease stakeholders discussed the ways and means to help reach these goals. They provided examples of success stories as well as suggestions of the innovative ways in which stakeholders can come together to fulfill this goal.


This truly international conference was attended by more than 400 participants representing Europe, North America, Australia and Asia. It was recognised by one and all that expertise in rare disease, like the patients, are scattered across the globe. It is thus imperative for the global rare disease community to put their heads together to solve the great big jigsaw of rare disease, of which everyone holds a piece. This meeting boasted of attendance from policy makers, industry leaders, academicians as well as patient organisations from around the world. Representatives from regulatory bodies such as FDA, EMA, the Canadian and Australian regulatory agencies shared their expertise and pushed the need for more regulatory success for orphan drugs. Patient organisations such as Rare Voices Australia, Eurordis and Genetic Alliance US, gave an overview of the current need of patients and how coming together with a common agenda is urgent, but also achievable. Industry partners emphatically expressed the need to work with academicians, patient organisations and regulatory bodies to significantly increase the number and quality of drugs that is accessible to all. The buzz word was collaboration, collaboration, collaboration.* Read more

 


 

Eurogentest survey to assess requirements of professionals working in a genetic center 


 

EuroGentest has been active since 2005 in harmonising genetic testing in Europe and helping genetic centres to provide good quality genetic services, for the benefit of the patient. On behalf of EuroGentest, a survery is being conducted to find out the needs and wishes of professionals working in a genetic centre in order to optimize their activities. Eurogentest asks you to participate in this online survey which is open to professionals working in a genetic lab/centre. Your opinion is very much needed so please take the time to fill in this 10-15 minute survey. *
Take the survey
Access the Eurogentest website



News on Orphanet

 


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 www.orphanet.org.uk or www.orphanet.ie-> 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 www.orphanet.org.uk or  www.orphanet.ie -> 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 www.orphanet.org.uk or  www.orphanet.ie->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: 07/04/2014





Access Orphanet services in Ireland and other countries in:
Legal noticeContact us — Last updated on: 14-04-08