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Rare Disease Focus: Supporting RARe Disease Throughout All Communities #RareDiseaseNI

Past team members

Our BSc students...

Declan O'Hare is conducting his research project with Dr Julie McMullan, Ashleen Crowe & Prof AJ McKnight entitled, "Assessing the Impact of Coronavirus (COVID-19) on those affected by rare
disease".

This study aims to assess the health, healthcare and psychosocial impact of coronavirus (COVID-19) on patients with rare disease(s) and to evaluate its impact on caregivers during and after the coronavirus (COVID-19) pandemic. Rare diseases are defined by the European Union as those affecting fewer than 1 in 2,000 individuals, cumulatively affecting 1 in every 17 persons at some point in their lives. It is estimated that 350 million people globally have a rare disease. 

 

Coronavirus disease (COVID-19) is an infectious disease caused by a virus [severe respiratory syndrome coronavirus 2 (SARS-COV-2)]. COVID-19 was first identified in patients in Wuhan province in China at the end of 2019. From there the virus has spread to other countries worldwide with the World Health Organisation declaring it a pandemic on 12th March 2020.  The number of patients affected, and the death rate, continues to rise. Many countries have now imposed restrictions with many populations having experienced a period of lockdown. Being diagnosed with a rare disease can lead to a significantly reduced lifespan and quality of life for patients and their families; accurate diagnosis and early intervention significantly improves long term outcomes for rare disease patients.  

 

 

Access to clinical trials, medications, and home care services has been severely curtailed due to COVID-19.  Individuals living and working with rare diseases consistently describe challenges accessing accurate information about individual rare diseases and accessing appropriate services; anecdotally this has been exacerbated due to the coronavirus (COVID-19) pandemic. Individuals living with rare conditions often describe feeling ‘isolated’ and ‘dismissed’ so effective communication and provision of information is critical.

This project involves evaluating the impact of the coronavirus (COVID-19) pandemic on patients with rare diseases.

 

 

 

Previous Staff and Students 

Staff:

  • Dr Julie McMullen (2017-2021) was a postdoc with our team carrying out research around communication and education of rare diseases.  Julie enjoys meeting the people 'on the ground' and hearing their stories and experiences.  Julie is keen that the work she does raises awareness of rare diseases as well as contributing to improving care in Northern Ireland and further afield. IJulie was shortlisted for the QUB postdoc's 'outstanding engagement' award for her rare disease work several times; this quote from a rare disease patient says it all, “Julie has boundless energy, rolling her sleeves up and giving her all to help identify and prioritise rare disease actions”.  For more information on Julie's research click here for more information on Julie's research
  • Dr Helen McAneney (formally to Sept 2020) as a lecturer in the Centre for Public Health at QUB  For more information on Helen's rare disease research click this link for Helen's research papers.  Helen has continued working on rare diseases at University College Dublin and frequently collaborates with our local team.
  • Dr Kerry Moore did her PhD with Prof O'Neill & Prof McKnight researching epigenetic risk factors for Parkinson's Disease.  More recently, Kerry focused her attention towards supporting and improving the lives of individuals living with rare diseases.  Kerry works with QUB colleagues and the Northern Ireland Rare Disease Partnership; she is a recipient of the The Rank Foundation's Time to Shine Internship Programme.  For more information on Kerry's research click here for more information on Kerry's research
  • Dr Jane Miller (2017-2019)

 

PhD Students:

BSc Students:

  • Declan O'Hare (2020-2021) worked with Dr Julie McMullan, Ashleen Crowe and Prof AJ McKnight exploring the impact of COVID-19 on those affected by rare disease(s).
  • Kirsten Downes (2019-2020) conducted her research project with Dr Julie McMullan and Prof AJ McKnight entitled, "Caring for someone with a rare disease: An insight into the life of a carer".  This project explored challenges carers face when looking after someone with a rare disease and identified how they could be better supported in this role.  For more information on Kirsten's project please see here. 
  • Jayne Gillis (2019-2020) conducted her research project with Katie Kerr, Dr Laura Smyth, and Prof AJ McKnight entitled, "Multi-omic analyses to improve molecular diagnosis for rare diseases".  A critical challenge for the rare disease community is improving the ‘diagnostic odyssey’; more than five years is the average time to diagnosis so this project explored options to improve diagnosis
  • Alex Patterson (2019-2020).  Related to our rare disease work, Alex Patterson worked with Dr Cheryl Flanaghan and Prof AJ McKnight researching, "Obesity educational interventions in clinical programmes: a review of current course content and identified gaps".
  • Marc Bentley (2018-2019) worked with Dr Helen McAneney, Prof AJ McKnight and Katie Kerr to evaluate non-traditional medical care for patients living with rare disorders: Complementary and alternative medicines (CAMs).
  • Taylor McClenaghan (2018-2019) worked with Drs Julie McMullan, Helen McAneney & AJ McKnight exploring perceptions and experiences of rare diseases among the General Practitioner (GP) population in Northern Ireland.
    • McMullan, J., McClenaghan, T., Crowe, A., McKnight, A., & McAneney, H. (2019). Perceptions and experiences of rare diseases among the GP population in Northern Ireland. British Journal of General Practice, 69(Suppl 1),
      [bjgp19X703637]. Link to our GP rare disease abstract

 

Summer Students:

image of Nahid and Lauren winning a prize