Rare Diseases - Public Webinar Series

Friday, January 22, 2021

This February, Join us for a series of webinars discussing Rare Diseases 

11th February 2021 (12.30 - 2pm)

Unlocking the potential of genetics and genomics in Rare Diseases

Presenters:

  • Dr Shane McKee: Genetic Medicine at Belfast Health and Social Care Trust, Lead of Northern Ireland's input to the 100,000 Genomes Project.
  • Dr Jim O’Byrne, Consultant Clinical/Biochemical Geneticist, Mater Misericordiae University Hospital, Dublin 
  • Chair: Prof Amy Jayne McKnight, Professor, School of Medicine, Dentistry and Biomedical Sciences Centre for Public Health,Queen’s University Belfast

The first in this series of Rare Diseases Public seminars is on “Unlocking the potential of genetics and genomics in Rare Diseases”. This webinar will provide an overview of genomic technologies used to diagnose and manage children and adults with rare genetic conditions, followed by a talk on genomic and precision medicine with examples of how it is applied to Rare Diseases from the field of Inherited Metabolic Disorders. It will also explore the challenges and possibilities of using and integrating genomic information in electronic healthcare records. 

Register for this webinar

18th February 2021 (12.30 - 2pm)

 

Rare Disease Research and Teaching Initiatives in Academia

Presenters:

  • Prof Amy Jayne McKnight, Professor, School of Medicine, Dentistry and Biomedical Sciences Centre for Public Health, Queen’s University Belfast  Queens University Belfast
  • Dr. Suja Somanadhan, Assistant Professor, UCD School of Nursing Midwifery and Health Systems, University College Dublin
  • Chair: Prof Thilo Kroll, Professor of Health Systems Management, UCD Centre for Interdisciplinary Research, Education and Innovation in Health Systems (UCD IRIS), UCD School of Nursing Midwifery and Health Systems, UCD

The second in this series of Rare Diseases Public seminars is focused on the “Rare Disease Research and Teaching Initiatives in Academia”. The main objective of this webinar is to better inform and increase awareness and interest in rare disease research and offer learning opportunities for students. As part of this webinar, we will be launching “ All Ireland Students Network for Rare Diseases (RDSnET)”.

Register for this webinar

25th February 2021 (12.30 - 2pm)

 

Living with a Rare Disease

Presenters:

  • Ms. Julie Power: Vasculitis Ireland
  • Ms. Laura Egan: Chair Rare Ireland
  • Ms. Anne Lawlor : Chair 22Q11 Ireland
  • Mr Les Martin: Newborn screening advocate

Chair:

Avril Daly: Vice-President of EURORDIS

Dr Emma Nicholson: Research Fellow, UCD Centre for Interdisciplinary Research, Education and Innovation in Health Systems (UCD IRIS), UCD.

Register for this webinar