Rare Disease Information for Healthcare Professionals

Rare Disease Strategy and Policy

Across Europe there has been much work done in highlighting needs of rare disease patients in relation to access to reliable disease information, diagnosis and care, treatment and research. Through this many EU countries including Ireland have drafted a plan to highlight the needs of rare disease patients and propose recommendations to better meet their needs and a plan to implement recommendations over the coming years. The first National Rare Disease Plan for Ireland, covering the years 2014-2018 sets out the background in Ireland for rare disease.

There are national plans and strategies from the European Commission (EC) relating to rare diseases that will help you understand EC policy in this area. Read more information on policy in rare disease in Europe.

Read information on policies for ERN establishment or joining a network.

Education for Healthcare Professionals National Rare Diseases Office - eLearning Modules

Welcome to the National Rare Diseases Office (NRDO) and the National Clinical Programme for Rare Diseases mini-module on rare diseases. These modules will address an approach to the recognition and management of rare diseases. The aim of this series is to give an overview of the current Irish and European Rare Diseases policy and on how to access the appropriate information for patients and families affected with rare Diseases. The series is divided into 6 sessions – Rare Disease Basics,Rare Disease Policy, Inheritance Patterns, Congenital Anomalies, European Reference Networks, and finally Orphanet. 

Understanding Genetics Video series

Prof Sally Ann Lynch has produced two additional short animations Understanding Copy Number Variations 

and Variant of Unknown Significance (VUS) 

Gen Equip Project - Genetics Education for Health Professionals The Gen-Equip project is a project combining education, primary care and genetics. The aim is to enable health professionals who are working in primary care to update their knowledge and skills in genetics with education including case-based modules, free of charge to health professionals who want continuing medical or professional education in genetics available at www.primarycaregenetics.org

Medics4RareDiseases is a not-for profit organisation based in the UK that is driving an attitude change to rare diseases among medical students and doctors in training. We're doing this to improve the journey through healthcare for those living with rare diseases and their families. We also believe that we can shorten the length of time to diagnosis by making doctors aware of the prevalence of rare diseases as a whole: they are individually rare but collectively common. Therefore doctors should be coming across rare diseases regularly in their career. We do this by working with patients, patient groups and healthcare professionals. We host a big event each year with The Genetics Section for The Royal Society of Medicine and we help other groups create their own events. We use social media and our website to promote rare disease education and to raise awareness of different rare diseases. We also collaborate with Findacure on The Student Voice Essay Competition each year. Medics4RareDiseases are proud to present our new video promoting rare diseases Genomics Education UK Rare Disease: The GP's role; Rare Disease: A family's journey; Rare Disease: The power of a genetic diagnosis;and Variant of Unknown Significance (VUS) 

GenEquip Project - Genetics Education for Health Professionals

The Gen-Equip project https://www.primarycaregenetics.org is a project combining education, primary care and genetics. The aim is to enable health professionals who are working in primary care to update their knowledge and skills in genetics with education including case-based modules, free of charge to health professionals who want continuing medical or professional education in genetics available at www.primarycaregenetics.org

Medics4RareDiseases is a not-for profit (NFP) organisation based in the UK that is driving an attitude change to rare diseases amongst medical students and doctors in training. We're doing this to improve the journey through healthcare for those living with rare diseases and their families. We also believe that we can shorten the length of time to diagnosis by making doctors aware of the prevalence of rare diseases as a whole: they are individually rare but collectively common. Therefore doctors should be coming across rare diseases regularly in their career. We do this by working with patients, patient groups and healthcare professionals. We host a big event each year with The Genetics Section fo The Royal Society of Medicine and we help other groups create their own events. We use social media and our website to promote rare disease education and to raise awareness of different rare diseases. We also collaborate with Findacure on The Student Voice Essay Competition each year. Medics4RareDiseases are proud to present our new video promoting rare disease education – just in time for Rare Disease Day on February 28th 2019

Genomics Education UK

Rare Disease: The GP's role

Rare Disease: A family's journey

Rare Disease: The power of a genetic diagnosis