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Scientific Programme

5th BCM-CUHK-UM Joint Symposium in

Clinical Genetics

Programme | 24 Sep 2024 | Day 1

08:00 – 09:00
08:00 Registration Lobby
08:30 Welcome Speech Summit 1
09:00 – 10:30 Plenary Session Summit 1
Expanded parental carrier screening: are you ready? LEUNG Tak Yeung
Cancer genomics and recent advances in screening, diagnosis and therapeutics CHEONG Sok Ching
TBC TBC
Session 1 O&G Summit 1
11:00 – 12:30 Thalassemia
11:00 Long-read sequencing addressed clinically unsolved problems remained by expanded carrier screening: thalassemia as an example CHOY Richard
11:20 In utero transfusion for Hb Barts fetuses HUI Annie
11:40 In utero stem cells transfusion for thalassemia LEUNG Tak Yeung
12:00 Gene therapy for thalassemia MATTAR Citra
12:20 Discussion
Session 1 Paediatrics Summit 2
11:00 – 12:30 Advances in Genomic Diagnosis in Rare and Undiagnosed Diseases
11:00 Malaysia experience of genomic testing in undiagnosed ONG Winnie Peitee
11:20 Clinical validation of RNAseq for rare disease diagnosis LIU Pengfei
11:40 The utility of whole genome sequencing in detecting multiple molecular diagnoses in a pediatric setting CHAU Matthew
12:00 Value of bioinformatics re-analysis in patients with negative exome findings MOHD Khalid
12:20 Discussion
12:30 – 13:30 Lunch Symposium by Xcelom Summit 1
12:30 – 13:30 Lunch Symposium by Norvatis Summit 2
Real-world experience of gene therapy with Zolgensma for patients with SMA in Malaysia TAE Sok Kun
Gene therapy access: challenges and opportunities in developing country THONG Meow-Keong
Session 2 O&G Summit 1
13:30 – 15:00 Spinal Muscular Atrophy (SMA)
13:30 Genetic carrier screening for Spinal Muscular Atrophy CAO Ye
13:50 Prenatal USG and genetic diagnosis of Spinal Muscular Atrophy WAH Isabella
14:10 Neonatal screening for Spinal Muscular Atrophy CHONG Josephine
14:30 Gene therapy for Spinal Muscular Atrophy BACINO Carlos
14:50 Discussion
Session 2 Paediatrics Summit 2
13:30 – 15:00 Inborn Errors of Metabolism (IEM)
13:30 Use of metabolomics in inborn errors of metabolism SCAGLIA Fernando
13:50 Antenatal presentation of IEM cases CHONG Josephine
14:10 Clinical utility of urine metabolomic profiling in diagnosis of patients with suspected IEM LAW Eric
14:30 Cholestatic liver disease in childhood CHEW Hui Bein
14:50 Discussion
Session 3 O&G Summit 1
15:30 – 17:00 Genetics in Reproductive Medicine
15:30 Structural variant, an underappreciated factor to human infertility DONG Elvis
15:50 All-in-one PGT testings CHOY Richard
16:10 Prenatal screening and work up in consanguinity KRISHNAN Vivek
16:30 Oral Abstract Presentation TBC
16:50 Discussion
Session 3 Paediatrics Summit 2
15:30 – 17:00 Mitochondrial Diseases / Emerging Therapies on Mitochondrial Disease
15:30 Emerging Therapies on Mitochondrial Disease SCAGLIA Fernando
15:50 Mitochondrial replacement CHAN David
16:10 Metabolic approach to hypoglycaemia LEONG Huey Yin
16:30 Oral Abstract Presentation TBC
16:50 Discussion

5th BCM-CUHK-UM Joint Symposium in

Clinical Genetics

Programme | 22 Sep 2024 | Day 2

Session 4 O&G Summit 1
09:00 – 10:30 Non-Invasive Prenatal Testing (NIPT)
09:00 Why NIPT may miss common trisomies? LEUNG Tak Yeung
09:20 NIPT for multiple pregnancies CHOY Richard
09:40 NIPT for microdeletion syndromes KWAN Angel
10:00 Discordant gender result between NIPT and USG LIM Karen
12:20 Discussion
Session 4 Paediatrics Summit 2
09:00 – 10:30 Genetic Hearing Loss
09:00 Genetic carrier screening for hearing loss CAO Ye
09:20 Neonatal screening for hearing loss KULASEGARAH Jeyanthi
09:40 Gene therapy for genetic deafness SHU Yilai
10:00 Language development WONG Patrick
10:20 Discussion
Session 5 O&G Summit 1
11:00 – 12:30 Skeletal Dysplasia
11:00 Genetics and treatment of brittle bone disorders LEE Brendan
11:20 An approach to chondrodysplasia and the Binder phenotype KRISHNAN Vivek
11:40 TBC
11:40 TBC
12:20 Discussion
Session 5 Paediatrics Summit 2
11:00 – 12:30 Advances in Therapy for Genetic Diseases
11:00 Design and validation of antisense oligonucleotides for rare disease therapy LIU Pengfei
11:20 Update on solid organ transplantation in inborn errors of metabolism SCAGLIA Fernando
11:40 Genetic and targeted therapy of vascular malformations LEONG Kin Fon
12:00 Ethical issues of gene therapy in low/middle include country THONG Meow-Keong
12:20 Discussion
12:30 – 13:30 Lunch Symposium Summit 1
12:30 – 13:30 Lunch Symposium by Astrazeneca Summit 2
Session 6 O&G Summit 1
13:30 – 15:00 Cyto-genomic Diagnosis
13:30 Methodologies and applications in cyto-genomic laboratories DONG Elvis
13:50 Significance of detecting small single-gene and intragenic CNVs by a high-resolution CMA platform with exonic coverage in disease-causing genes in a pediatric setting CHAU Matthew
14:10 The Nile Delta of Precision Medicine: Prenatal Genomic Care in Highly Inbred Population AL-OWAIN Mohammed
14:30 TBC
14:50 Discussion
Session 6 Paediatrics Summit 2
13:30 – 15:00 Miscellaneous/Caner Genomics
13:30 Rare paediatric solid tumours FOO Jen Chun
13:50 Incontinentia pigmenti: a glimpse of gene conversion as a disease mechanism LO Ivan
14:10 Malaysia Experience in Diagnosing Hereditary Aortopathy MUZHIRAH Haniffa
14:30 Malaysia experience in mainstreaming genetic testing in cancer management YOON Sook Yee
14:50 Discussion
15:30 – 17:30 Plenary Session Summit 1
15:30 Facilitating the diagnosis of rare genetic disorders by artificial intelligence through facial imaging analysis HSIEH Tzung-Chien
16:00 Genetic therapies for skeletal diseases LEE Brendan
16:30 Implementation of prenatal genome sequencing: benefits and challenge CHOY Richard