Speakers at ICG-13

Speakers at ICG-13

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Biography

Professor Datuk Dr. A Rahman A Jamal is a professor of paediatric haematology and oncology and molecular biology at the Faculty of Medicine, Universiti Kebangsaan Malaysia. He is currently the Pro Vice Chancellor of the UKM’s Kuala Lumpur Campus. He was the founding director (2003-2017) and now a senior principal research fellow of the UKM Medical Molecular Biology Institute (UMBI). He is the project leader for The Malaysian Cohort and the custodian for the Cohort Biobank, which is the largest in South-East Asia. He is also the project director for the UKM Specialist Children’s Hospital. His research interests include molecular biology of cancers, non-communicable diseases other than cancers, cohort studies, and microgravity science.

 

He has over 140 indexed publications in national and international publications. One of his latest projects is The Cancer Genome Atlas Malaysia; a project which involves whole genome sequencing, proteomics and metabolomics analyses on colorectal cancers. Professor Datuk Dr A Rahman is the chairman of National Stem Cell Committee for Ethics in Research and Therapy, which is an oversight committee under the Ministry of Health. He is also in the steering committee for the Thalassaemia Control Programme under the Ministry of Health. He is also a member of the National Clinical Trials Committee under the Ministry of Health. He is also a fellow of the Academy Sciences of Malaysia.

 

At the international arena, he is a member of the Asia Cohort Consortium, and most recently have been appointed as a member of the UK Welcome Trust Committee for Longitudinal Population Studies.

 

He has given more than 170 invited lectures at local and international conferences including plenary and keynote lectures.


Abstract

Utility of the Trusight Cardio panel in molecular autopsy for sudden cardiac death

Rahman Jamal

UKM Medical Molecular Biology Institute (UMBI), Universiti Kebangsaan Malaysia

Jalan Yaacob Latif, Cheras, 56000 Kuala Lumpur, Malaysia

 

The interest in precision genomic medicine has increased rapidly in the past few years with the increasing body of knowledge in the genome and the identification of key variants involved in various diseases. The reduction in costs for the next generation sequencing has helped push many of the gene panel testing to the bedside and providing the clinician with another tool to help in the diagnosis, prognosis and also predicting the treatment response in a somewhat personalised manner. Many gene panels are now used in cancer management especially for the identification of actionable mutations. The application of precision medicine for cardiovascular diseases is also on the rise especially with the increase in the mortality for sudden cardiac deaths. In the USA, 25% of sudden cardiac deaths are related to inherited cardiac conditions. There is a clear value of genetic testing of those with high suspicion of an inherited clinical phenotype and also for cascade screening so that early intervention can be initiated. The Trusight Cardio panel covers 174 genes for 17 inherited cardiac conditions including aortopathies, channelopathies and cardiomyopathies and have been very much tested in the Caucasian population. We used the gene panel in a molecular autopsy approach on 36 cases of sudden cardiac death (ICD10 120-124) at age of less than 55 years and matched controls. For the interpretation of the sequence variants, we used the standards and guidelines published by the American College of Medical Genetics and Genomics and the Association of Medical Pathology. So far we have completed the analysis for 12 cases and ‘possible’ causative variants were identified in all of them. These variants are mostly pathogenic and related to diseases such as cardiomyopathies and chanelopathies. The implications for our findings are very much in terms of using the panel for genetic testing of those identified as high risk by the physicians and cardiologists. We believe the clinical utility is there but it depends much on the probability of the disease. For those who have succumbed to the disease, it is important as well for the counselling and screening of family members who could be at risk of sudden cardiac death as well. This relatively small study has shown the utility of using the cardiac panel as a tool for molecular autopsy for sudden cardiac deaths, but it could easily be translated to individuals and patients at risk or where the cardiologists or physicians need confirmatory evidence of an inherited condition. We believe that the genotype-guided approach to the management of cardiovascular diseases will soon become routine, but there are still barriers to be overcome. The future however is bright as precision medicine moves into the discipline of cardiovascular diseases.

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