Dr Sally Lynch was lauded for her work in discovering a new rare disease gene and new clinical presentations for rare diseases in others.
The Health Research Charities Ireland (HRCI) Research Impact 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/Health Research Board (HRB) Joint Funding Scheme.
Dr Lynch, who is a consultant geneticist at CHI at Temple Street and Crumlin, and UCD School of Medicine, said “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.”
Dr 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.
Dr Avril Kennan, CEO of Health Research Charities Ireland, added “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.”
Dr 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, Dr 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 people, from 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).
As part of her research work, Dr 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