The RCGP Northern Ireland Faculty is delighted to be collaborating with the Northern Ireland Rare Disease Partnership (NIRDP) to host a ‘Top Tips for Managing Rare Disease in GP’ evening. Topics provided aim to help you manage patients with rare disease.


Rare disease in primary care: what you need to know – Dr Lucy McKay at Medics 4 Rare Disease

The need for rare disease education in general practice may not be immediately obvious, but by the end of this session you will understand the relevance of rare disease to your daily clinical practice and the vital role primary care has to play in achieving better outcomes for those living with rare disease. This session will cover the following:

·         Definition of rare disease and its place in public health policy

·         Epidemiology of rare disease

·         Common challenges faced by people living with a rare disease

·         Knowing when to suspect that your patient has a rare, genetic or undiagnosed condition

·         Tools that are readily available for diagnosing rare diseases

·         A management plan example for any patient living with a rare disease

Your local friendly Geneticist: Interacting with the Northern Ireland Regional Genetics Service – Dr Caoimhe McKenna

Clinical Genetics in this session will aim to answer some GP frequently asked questions and provide tips on how to get the most out of the regional genetics service.

Have you ever wondered… Who to refer to genetics, and perhaps who not to refer?  What tests might be helpful to do before referring? What do you need to know about predictive genetic test and insurance? What to do with an early pregnancy potentially affected by rare disease? And, how to contact clinical genetics for advice quickly?

Rare Diseases: a Northern Ireland Perspective – Professor AJ McKnight

This session’s speaker is Amy Jayne (AJ) McKnight who is a Professor of molecular epidemiology and public health at QUB.  AJ has a keen interest developing excellent research and improving resources for individuals living and working with rare diseases.  AJ has worked for rare disease communities for ~40 years as a committee member, Chair and Trustee for multiple charities, more recently extending this interest into formal research at QUB where an enthusiastic and productive rare disease research team is being built. Together with colleagues in Roi, AJ was involved in launching the All Ireland Students Rare Diseases Network (RDSnET) in Feb 2021. In this session AJ will cover recent GP papers & include links to excellent support sites for GPs and their patients within NI and beyond.

This event is hosted by the RCGP Northern Ireland and some aspects may be NI focused, but we welcome GPs from any nation to join if interested.

For any queries or further information please contact Fiona Monaghan 

*PLEASE NOTE: This event is free but a charge of £10 will be taken in the event that you do not show up on the day. During online registration you will be asked to provide your card details and your payment will be held. If you cannot make or have to cancel your attendance please contact your event administrator at least 10 working days prior to the event date.

The charge may be waived based on individual circumstances: please see our Terms & Conditions