Telephone: 01 854 5065
Email: rare.diseases@mater.ie
Monday –Thursday inclusive 9.30am -1.30pm
The National Rare Disease Information Service provides current and evidenced based information on rare conditions and signposts to available rare disease expertise in Ireland and Europe
The information service assists:
- People who are affected by a rare or genetic condition, or an undiagnosed, likely rare condition (Syndrome Without a Name)
- Parents, family members and carers of someone with a rare or genetic condition
- Rare Disease patient organisations
- Doctors, nurses, genetic counsellors, social workers and other health care professionals who work with people with rare or genetic conditions
- Scientists who are studying rare or genetic and need information for their research or for people taking part in studies
- Policy-makers and other government agencies
We provide information on:
- Rare conditions
- Clinical expertise available in Ireland and Europe
- Patient support groups
- Social care supports
- Research projects and clinical trials in Ireland and abroad
- National and European RD healthcare policy
Please note The NRDO does not operate a rare disease clinic. We cannot diagnose, treat or co-ordinate care for people with rare conditions. The aim of the Information Service is to help people access reliable rare disease information. For enquiries that request assistance or information that is not within our remit, we will attempt to signpost a more appropriate agency or pathway to resolve the query.
The following are the main sites that NRDO use for disease-specific information:
Online Mendelian Inheritance in Man:
It should be noted that Orphanet information tends to be geared towards medical professionals and may not be fully understandable by individuals who do not have medical knowledge. However, Orphanet does link to external information (below the disease summaries), which may be more reader-friendly.
Recommended websites that provide more patient-orientated information are:
Genetics Home Reference:
Unique-rare chromosome:
Contact a family:
Mygene2:
Information service users must be made aware that information provided from sites abroad (particularly American sites) may have treatment guidelines that are different from those used in Europe.
Clinical centre information
Orphanet contains the list of centres that are recognised multidisciplinary centres for RD expertise. Where no information for Ireland exists on Orphanet, NRDO may have information about centres with recognised expertise that have yet to register on Orphanet. Team clinicians and other clinicians from recognised centres of expertise may offer further guidance for Information Scientists.
Patient support organisation information
For many conditions, no Irish support group will be available. Orphanet may have support groups listed in the UK or further afield that may be helpful. All Irish patient organisations listed on Orphanet are registered charities in Ireland and have been checked to ensure that they provide patient support and are not solely a fundraising body. Orphanet data from other countries will have undergone a similar quality check by their national country coordinators.
Data sources:
contact a family for families with disabled children
Orphanet
Eurordis
Rareconnect
Research and clinical trial information
Collection of research study data by Orphanet Ireland is principally from public funders and should not be considered complete. Irish clinical trial data is registered on Orphanet with a time delay, you may also want to consult www.clinicaltrials.gov and https://www.clinicaltrialsregister.eu/
Disclaimer
Any materials that the National Rare Diseases Office provides are for information purposes only. Advice on the treatment or care of a patient should be obtained through consultation with a doctor who has examined the patient and is familiar with that patient's medical history. The information provided on rare diseases from the National Rare Diseases Office is not a substitute for clinical advice from your doctor about your care or treatment.
While we take every measure to ensure accuracy and integrity of information on our website we can not take responsibility for the content of information provided through external links.
