Meet the award-winning geneticist changing patients’ lives

Prof Sally Ann Lynch talks about the complexity of DNA tests and the work that led to her winning the HRCI Research Impact Award.

Last Thursday (1 December), consultant geneticist Prof Sally Ann Lynch won the inaugural Health Research Charities Ireland (HRCI) Research Impact Award for her contribution to the field of research.

The award highlights the role of health research charities in funding research as well as principal investigators who have participated in the joint funding scheme from HRCI and the Health Research Board.

Lynch’s work, which was supported by the National Children’s Research Center and the Children’s Health Foundation, Temple Street, was recognized for its real-world impact and for making a positive difference to patients’ lives.

Specifically, Lynch and her team undertook two projects under the scheme, which identified a total of 11 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.

With the remaining 10 genes, Lynch discovered new clinical symptoms that were not previously associated with diseases for these genes, from lung disease to neurological conditions.

Lynch told SiliconRepublic.com more about her research, which started 10 years ago.

“We were using new technology to try and make diagnoses in families where routine testing was negative. It was done in collaboration with a team in UCD [University College Dublin],” she said.

“We successfully identified new diagnoses in a number of families using this. Now, this technology forms part of routine diagnostic testing in the investigation of children and adults with various different clinical problems.”

‘I do feel it is important to try and find diagnoses where one hasn’t been found’
– SALLY ANN LYNCH

Lynch said the LARS gene had not been previously recognized as a gene that caused human disease.

“This gene, if it is not working properly, causes children to fail to thrive. Many had evidence of anemia and liver problems and when these children got a dose of flu or other viral illnesses, they could get very ill and go into liver failure,” she said.

“A colleague working in the metabolic unit in Temple Street had identified a small number of families who had affected children so we collaborated together and received consent from the families to use this new technology to see if we could identify the cause of the liver failure. We found genetic alterations in this gene, LARS.”

The discovery can help many children around the world be diagnosed as well and, while a new treatment has not been developed yet, a greater understanding of the condition can help with day-to-day management.

The challenges around genetic testing

While discoveries such as these can be amazing for diagnostics, medicine and innovations in health, the work is not without its challenges.

Because there is so much variation in DNA, trying to work out if these variations are causing a disease or if they are completely benign can be extremely difficult.

“It is important that due care and attention is paid to genetic test reports as they are not always black and white. The biggest challenge we face is interpreting DNA changes and trying to work out if we have reached a diagnosis or if it still remains elusive,” said Lynch.

She added that DNA tests are often misunderstood as easy to organize and have the ability to give a yes or no answer, when the reality is far more complex.

“DNA tests might give you a diagnosis, they might not give you a diagnosis. Sometimes a gene change is found and no one is sure whether a diagnosis has been reached or not because there is not enough evidence to be completely sure. DNA tests need consent. DNA tests need thought.”

Upon winning the Research Impact Award, Lynch spoke about her passion for solving rare diseases and said that an estimated 300,000 people in Ireland are living with a rare disease.

“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.”

She added that identifying new genes is the first step in a long road that will hopefully one day lead to a new treatment.

As part of her research work, Lynch helped produce a handbook, Genetic Testing & Risk Assessment of Rare Disorders, for primary healthcare professionals.

“As a medic, staying still is not OK. I do feel it is important to try and find diagnoses where one has not been found. I do feel I have to keep trying.”

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