ISCADB 2023: Efforts to Manage Genetic Disease in Children through Next Generation Sequencing

FK-KMK UGM. The Working Group on Genetic of Faculty of Medicine, Public Health, and Nursing UGM is again holding the International Symposium on Congenital Anomaly and Developmental Biology (ISCADB) offline on Monday and Tuesday (4 and 5 September) at the Eastparc Hotel Yogyakarta.

Genetic inherited diseases are one of the main problems that occur in toddlers. “ISCADB is a forum that provides opportunities for health workers to increase their knowledge regarding this matter,” Prof. dr. Gunadi, Ph.D, Sp.BA (Chairman of ISCADB 2023) explained.

Chairman of InaSHG (Indonesian Association of Human Genetics), dr. Nani Maharani, M.Sc.Med., Ph.D explained that congenital anomalies are one of the main causes of long-term disability and children mortality. “Next Generation Sequencing (NGS) is one of the solutions to this problem. Currently Indonesia has started to respond related to the development of NGS. We need support from all parties, including the government, to be able to maximize NGS in Indonesia,” she said.

Also present in this event, the Dean of FK-KMK UGM, Prof. Dr. Yodi Mahendradha, Ph.D., M.Sc., FRSPH to welcome all ISCADB participants. According to Prof. Yodi, precision medicine in congenital anomalies has many challenges in the future. “But we don’t need to worry because through this symposium we will gain knowledge in dealing with these challenges,” Prof. Yodi added.

The opening agenda continued with the Plenary Session which was filled by dr. I Made Darmajaya, Sp.BA., Subsp.D.A(K)., MARS (General Chairman of PERBANI), Prof. Dr. Christian Gilissen, Ph.D (Radboud University), and Prof. Dr. Gunadi, Ph.D, Sp.BA (Department of Surgery FK-KMK UGM).

dr. Darmajaya gave a presentation titled Congenital Anomaly: The Role of Pediatric Surgeon in The Precision Healthcare. There are several challenges faced by surgeons in some developing countries, mainly related to their numbers. Surgeons in Indonesia are relatively few so that services are not evenly distributed. “We need support from the government to increase the number of surgeons in Indonesia,” he explained.

The second speaker, Prof. Gilissen was present to present material on Unraveling the Genetic Causes of Congenital Disorder Using Next-Generation Sequencing. “To use NGS in congenital anomalies, we must focus on variations that can cause genetic disorders,” Prof. Gilissen said.

Lastly, Prof. Gunadi, in his presentation entitled Advances in Genomics & Precision Medicine for Congenital Anomaly in Indonesia, explained that the global landscape has changed since the discovery of technology in the world of medicine such as NGS. NGS has begun to be developed in Indonesia but not much. “Currently there are 6 hospitals that are developing NGS. However, in the future we will still face challenges in terms of privacy, costs, and ethical issues,” he added. (Nirwana/Reporter)

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