Rare Diseases

A Resource for Primary Care Professionals

Rare DiseaseRare Disease2

This content has been developed by members of the National Centre for Medical Genetics (NCMG) and the National Children’s Research Centre (NCRC) as a guide for health practitioners, particularly general practitioners and midwives, in relation to common clinical genetic queries. It is hoped that the information contained herein will go some way towards bridging the information gap that exists in the context of these patient queries. The advice contained in this microsite has been developed and approved by clinical and laboratory-based experts on rare disorders and genetic testing.

The pages provide information and guidance on best practice with respect to genetic testing, including a range of FAQ style sections on what to do in response to common scenarios. Similarly, the handbook describes the role of the National Centre for Medical Genetics, and how the Centre can be of assistance to primary healthcare professionals and midwives.

We also describe options for practitioners and patients with regard to genetic counselling. In response to feedback from practitioners, we have included information on genetic testing for cystic fibrosis; an area that is particularly relevant since the introduction of the new-born screen programme in July 2011.

We see this site as an evolving resource, and we very much welcome feedback as to how it might be improved and developed.

We are extremely grateful to the project team and contributors who wrote, compiled and developed the various content areas. We are also indebted to our funders, the Health Research Board (HRB), who recognised the provision of this information to healthcare practitioners as a priority and supported the development of the project.

Handbook Download

Project Team

  • Dr Jillian Casey, Post-Doctoral Researcher, NCRC
  • Dr Sally Ann Lynch, Consultant Geneticist, NCMG
  • Ms Rosie O’Shea, Genetic Counsellor, NCMG & NCIMD
  • Ms Jacqueline Turner, Genetic Counsellor, NCMG
  • Dr Alana Ward, Genetic Counsellor, NCMG
  • Dr Mel McEvoy, General Practitioner, Dublin
  • Dr Peter O’ Keane, General Practitioner, Wicklow
  • Ms Jane Dalrymple, Clinical Midwife & Specialist in Fetal Medicine, Rotunda Hospital, Dublin
  • Dr Stephen Stewart, Consultant Gatroenterologist & Hepatologist, Mater Misericordiae University Hospital, Dublin
  • Ms Debby Lambert, Genetic Counsellor at National Centre for Medical Genetics and Temple Street Children’s University Hospital

Acknowledgments

This content has been developed by the Centre for Medical Genetics (NCMG) and the National Children’s Research Centre (NCRC), Dublin, Ireland. The Health Research Board is supporting the development of this content through their Knowledge Exchange and Dissemination Award which aims to maximise the uptake of research findings into policy and/or practice (grant MRCG/2011/17/K).

This project is supported by:

 

Disclaimer

The information accessible through the University College Dublin website has been compiled from many sources that are not controlled by University College Dublin. While all reasonable care has been taken in the compilation and publication of the contents of this web site, UCD makes no representations or warranties, whether express or implied, as to the accuracy or suitability of the information or materials contained in this resource.

Access to and use of the information herein is entirely at the risk of the user. University College Dublin shall not be liable, directly or indirectly, to the user or any other third party for any damage resulting from the use of the information contained or implied in the University College Dublin website .

University College Dublin does not assume legal or other liability for any inaccuracy, mistake, mis-statement or any other error of whatsoever nature contained herein. University College Dublin hereby formally disclaims liability in respect of such aforesaid matters.

The information contained within this site is of a condensed and general informational nature only and can change from time to time. It should not, by itself, be relied upon in determining legal rights or other decisions. Visitors to the site are advised to verify, by direct and live contact with the National Centre for Medical Genetics, any information on which they may wish to rely.

University College Dublin has endeavoured to attribute copyright or other intellectual rights to the rightful owners where such course has been appropriate. Where any attribution has been missed or overlooked University College Dublin, on being informed, will correct this omission.

By using this website you are accepting this disclaimer.