Heart to Heart: ARMI scientists and Lebanese Medical Researchers One Step Closer to Understanding Congenital Heart Disease

03 Dec,2021

Heart to Heart: ARMI scientists and Lebanese Medical Researchers One Step Closer to Understanding Congenital Heart Disease

For ARMI scientist Jeannette Hallab from the Ramialison group, the Congenital Heart Disease (CHD) Genome Project is very close to her heart. Over the past few years, Jeannette has spearheaded this collaborative endeavour. The Ramialison group has undertaken the project at ARMI, with Lebanese clinicians Principle Cardiothoracic Surgeon Dr Elie Sawan, who visited ARMI in 2019, and expert Clinical Geneticist and Clinical Genetics Unit Head, Professor Chantal Farra, both based at  Hotel Dieu de France Hospital and Saint Joseph’s University of Beirut (USJ).

The recent approval of the Human Research Ethics Application marks an exciting milestone for the project, which enables participant recruitment in Lebanon. With that, the CHD Genome project is now one step closer to providing new insights into the genetic basis of CHD in humans. Its final format will deliver direct, real-world benefits to a family afflicted by CHD across more than one generation. This has all been enabled through a novel partnership between Australian and Lebanese medical researchers and clinicians.

“I hoped to provide our research group with a human context in which to apply a novel, bioinformatics tool built by our PhD student Gulrez Chahal but I also wanted to ensure the project pipeline could be of direct benefit to our participant families, affected by CHD. This all started at a 2017 ALMA (Australian-Lebanese Medical Association) event.  I approached Dr Wally Ahmar, President of the Australian Lebanese Medical Association and a Cardiologist at Monash Heart, asking whether he had appropriate contacts in Lebanon to help me realise my idea,” recounted Jeannette.

What began as an impromptu conversation has grown into a complex international human genetics project that will apply research-based bioinformatics analyses and clinical genetics pipelines. Jeanette explained, “CHDs are the most common serious birth defects and affect 1 in every 100 newborn babies, but unfortunately, existing clinical genetics pipelines are unable to explain the basis of CHD in 80% of cases. One significant limitation of current clinical diagnostic methods is their focus on genes.”

The data-handling and project pipeline designed by Jeannette will first provide clinical genetics services and feedback to the study participants, followed by research analyses of the same genomic data, using the bioinformatics pipeline built by Ramialison group PhD student Gulrez Chahal. The research arm of the project will investigate the possibility that study participants harbour changes or mutations in poorly studied regions of the genome which are associated with CHD and may be causing or contributing to the disease. “The research-based analyses could fill existing gaps in current clinical genetic diagnostics approaches and provide new insights into the genetic basis of CHD which cannot be provided through existing clinical genetics frameworks,” said Associate Professor Mirana Ramialison, head of the Developmental Systems Biology at ARMI, who supported Jeannette in this endeavour and secured funding for its realisation.

This project is the first of its kind in ARMI. Establishing an international project with a data handling pipeline involving human clinical and research-based genetic screening in parallel has been exceptionally complex, first requiring a Memorandum of Understanding (MOU) between Monash University and USJ. Jeannette has worked with a complex web of professional contacts, including Dr Elie Sawan, Professor Farra, Dr Nizar Farjou, ARMI Director of External Strategy and Planning Silvio Tiziani, Professor Peter Currie, Dr Wally Ahmar, Professor Anthony White, Human Research Ethics Committees, Monash University e-research, Genetic Counsellors, Melbourne Genomics Health Alliance, the Victorian Clinical Genomics Services, NATA, ILAC, colleagues at Monash Heart and the Murdoch Children’s Research Institute including Associate Professor David Elliot, and Bioinformaticians in the Ramialison group to ratify the MOU, finalise the project design and compile the Human Research Ethics Application. The project design and ethics approval process required the design of gold-standard IT and data handling frameworks that guarantee the security and privacy of participant information and can accommodate sequential clinical genetics screening and research-based analyses.

Dr Sawan remarked, “Circumstances in Lebanon currently present numerous challenges to the healthcare system and life in general, but we will commence recruitment as soon as possible. I look forward to working with my colleague Professor Farra and our Australian colleagues on this worthy endeavour.”

“I am so proud that this project will provide world-class clinical genetic diagnostics services to a Lebanese family affected by multi-generational CHD. I hope we can provide them with the answers they deserve and help them to understand whether their genomes contain changes which explain why CHD is recurring within their family,” said Jeannette. “We hope the knowledge generated by the research study will ultimately improve genetic diagnostic rates and quality of life for other families affected by CHD in the future.”

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