Eminent Geneticist Honoured with Inaugural HRCI Research Impact Award 2022

Consultant Geneticist, Prof. Sally-Ann Lynch, has been recognised for her contribution to the field of research with the inaugural Health Research Charities Ireland (HRCI) Research Impact Award.

The award, made for the first time this year, seeks to highlight the work of health research charities and principal investigators who have participated in the Health Research Charities Ireland (HRCI)/Health Research Board (HRB) Joint Funding Scheme.

Special guest at the celebration, which took place in the Ashling Hotel, Dublin, was the distinguished patient advocate, Michael Griffith, who was instrumental in the establishment of the Joint Funding Scheme and who co-founded the HRCI. Mr Griffith presented Prof. Lynch with the award and commended her for the real-world impact of her research, and for making a significant and positive difference to patients’ lives.

Prof. Lynch’s work received more than €300,000 under the HRCI/HRB Joint Funding Scheme in the decade to 2020 and was supported by the National Children’s Research Centre and the Children’s Health Foundation, Temple Street. The scheme offers charities, which are members of HRCI, the opportunity to receive matching funding from the HRB for research projects that they are undertaking. A total of 153 awards have been made since the inception of the scheme, investigating a wide range of common and rare health challenges, with a total investment of over €30 million.

The event also saw panel discussions on two research projects currently funded under the scheme. The first discussion featured Prof. Suzanne McDonough, RCSI, who spoke about her study on sustaining activity with arthritis, with Gráinne O’Leary, CEO, Arthritis Ireland, project sponsor, and PPI representative, Claire Kinneavy, also speaking. The second discussion featured Dr Christine McGarrigle, TCD, on her study on carers and the impact of caring on their mental health and well-being, with Nikki Dunne, Research Manager, Family Carers Ireland, project sponsor, and PPI representative, Claire Devlin, also contributing.

New Gene Disease Discovery
Prof. Lynch and her team undertook two projects under the scheme which identified a total of eleven genes that have been responsible for significant health issues for people.

One of these genes, the LARS gene, and its association with a failure to thrive in babies, was a brand-new discovery. This was particularly important not least because Ireland has the highest number of people per capita with this condition in the world. With the remaining 10 genes, Prof. Lynch discovered new clinical symptoms that were not previously associated with diseases for these genes.

The genes affected all age groups and covered diseases from “head to toe” – from lung disease to neurological conditions, from cardiac issues to metabolic disorders causing a failure to thrive in children.

A total of 27 peoplefrom 11 families, benefited from the research which provided them with a specific diagnosis. In the case of one person diagnosed with a particular disease at six years of age, it meant her baby sister could be diagnosed at three months. In the case of other genes identified, one family at risk of heart arrhythmia was offered carrier testing to identify if they needed ongoing cardiac surveillance. For two other families, a diagnosis meant a number of antenatal options could be offered, including earlier pre-natal genetic testing or a type of IVF (pre-implantation genetic diagnosis).

Need for Bigger Bite of Funding “Cherry”
Prof. Sally Ann Lynch, consultant geneticist at CHI at Temple Street and Crumlin, and UCD School of Medicine, comments:

“I am honoured to receive this inaugural HRCI Research Impact Award not only for myself but for the dedicated and enthusiastic members of my team who have worked so hard to make these discoveries happen. I am passionate about solving rare diseases. A recent study showed that 4.2% of children have a rare disease here and this 4.2% use 52% of paediatric hospital bed days.

“Despite these figures, and the estimated 300,000 people living with a rare disease in Ireland, rare diseases undoubtedly get less bite of the funding cherry than other conditions, even though they are more in number and are just as, if not more, challenging. This needs to change. I hope that with the publication of the new strategy on genetics and genomics that the commitments set out will be matched by the appropriate levels of funding to develop a best-in-class genetic testing system and one which eliminates waiting lists. This will not only benefit patients but will also benefit the health service in reducing the burden of rare disease on its activity.”

Diagnostic Odyssey Over
Dr Avril Kennan, CEO of Health Research Charities Ireland, adds:

“Thanks to the work of Prof. Lynch and her team, there was at last an end to a diagnostic ‘odyssey’ for the 27 people who took part in her research, some of whom had waited 20 years for a diagnosis.

“Having a serious disease or health condition is never easy. But having a diagnosis really can make a huge difference for families and helps to take some of the weight of worry off their shoulders. It eliminates the guessing game and means an end to questions about what a condition might be, if it is life-limiting, if it can be treated, if it will affect fertility, if children will be born with it, and so on. It also allows for appropriate treatment which can sometimes also mean better outcomes too.”

As part of her research work, Prof. Lynch has produced a handbook, Genetic Testing & Risk Assessment of Rare Disorders, for primary healthcare professionals. She has also produced a series of 11 easy-to-understand animation videos explaining a wide range of genetic issues for use by families and healthcare professionals. These videos range from chromosomal disorders, to inheritance patterns, to normal human variation and, collectively, have now achieved more than 1.45 million views.

For more information on the work of Health Research Charities Ireland or the HRCI/HRB Joint Funding Scheme, visit www.hrci.ie/joint-funding-scheme


Image: Karl Hussey Photography