A consultant geneticist, who led a team that identified 11 genes that have been responsible for major health issues, has been awarded 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 HRCI/Health Research Board (HRB) Joint Funding Scheme.
Prof Sally-Ann Lynch and her team undertook two projects as part of this scheme, which identified 11 key genes. One of these - the LARS gene - was a brand new discovery and it was found to cause multi-organ problems and affect different parts of the body.
It is associated with a failure to thrive in babies and mild learning challenges and is characterised by liver dysfunction, anaemia, seizures and developmental delay, with children extremely vulnerable to infection and serious illness.
Meanwhile, with the other 10 genes, Prof Lynch discovered new clinical symptoms that were not previously associated with diseases for these genes. Furthermore, these genes affected all age groups and a range of diseases, including lung, heart and neurological conditions.
A total of 27 people from 11 families benefited from this 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).
Prof Lynch said she was “honoured” to receive this award on behalf of herself and her “dedicated and enthusiastic team”, noting that she is “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. This needs to change,” she insisted.
Commenting on the award, HRCI chief executive, Dr Avril Kennan, emphasised that thanks to the work of Prof Lynch, “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,” she said.
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.
For more information on the HRCI/HRB Joint Funding Scheme, click here.