NUIG looks at heart gene in research into sudden death

Scientists in Galway are seeking families who are known to be at risk of sudden death due to a cardiac condition in order to continue ground breaking stem cell research into developing therapies to repair the genetic defect.

Biomedical researchers need skin biopsy samples from family members with Long QT syndrome – an inherited rhythm disease – so they can engineer those same skin cells into heart cells and create an exact replica of that patients’ heart tissue in a laboratory dish.

The research aims to investigate the causes of unexpected sudden death from inherited cardiac conditions in young people and to help test therapies that may reduce the risk of sudden death in survivors and relatives.

The team from the Regenerative Medicine Institute (REMEDI) and CÚRAM at NUI Galway, in collaboration with clinicians from Our Lady’s Children’s Hospital Crumlin, are the first in Ireland to develop synchronised beating heart cells from human stem cells made from skin biopsy.

It was the discovery of the genetic basis of inherited cardiac conditions such as Long QT Syndrome which has given the scientists an insight into how the defect might be repaired.

To continue the next phase of the NUIG study, both affected and unaffected family members are required to better understand what places one family member at risk and not another.

Skin biopsy samples will be taken using “punch biopsies” at NUIG with local anaesthetic and subsequently grown in a dish.

By engineering skin cells into heart cells through what is known as reprogramming, an exact replica of the patients’ heart tissue can be created in the lab and new therapies to prevent arrhythmias can be tested without putting that patient at risk.

The genetic defect in the heart cell can also be repaired through “genome editing” and this repaired heart cell can be compared to the diseased heart cell in the lab.

The stem cell study was initiated by Professor Timothy O’Brien, director of REMEDI and co-principal investigator at CÚRAM in NUIG and Dr Terence Prendiville, principal investigator at the National Children’s Research Centre and the Department of Paediatric Cardiology at Crumlin.

The research was carried out by Professor Sanbing Shen, professor of fundamental stem cell biology, and post-doctoral researcher Dr Min Liu.

“I meet families every week in the hospital from all over Ireland who have been affected by the sudden unexpected death of a loved one. Their first question to me is: “Could this affect my child?” Their next question is: “How do I keep them safe?” remarked Dr Prendiville.

“Research such as this allows us to continue to push the envelope on developing medical therapies that safeguard against risk of sudden death.”

Interested candidates should email: Terence.prendiville@olchc.ie