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Scientific Programme

5th BCM-CUHK-UM Joint Symposium in

Clinical Genetics

Programme | 21 Sep 2024 | Day 1

08:00 – 08:45 Registration Summit 1
08:45 – 10:30 Plenary Session 1 Summit 1
Chairpersons: LEUNG Tak Yeung; THONG Meow-Keong
08:45 – 09:20 Opening and Diagnosis and Therapies for Brittle Bone Diseases LEE Brendan
09:20 – 09:55 Facilitating the diagnosis of rare genetic disorders by artificial intelligence through facial imaging analysis HSIEH Tzung-Chien
09:55 – 10:30 Implementation of prenatal genome sequencing: benefits and challenge CHOY Richard
10:30 – 11:00 Tea Break
Parallel Session 1A: Thalassemia Summit 1
11:00 – 12:30 Chairpersons: LIM Karen; SETHI Neha
11:00 – 11:20 Long-read sequencing in expanded carrier screening: thalassemia CHOY Richard
11:20 – 11:40 In utero transfusion for Hb Barts fetuses HUI Annie
11:40 – 12:00 Stem cells and gene therapy for thalassemia LEUNG Tak Yeung
12:00 – 12:20 Genetic Diagnosis of Thalassemia and Complex Monogenetic Diseases with LongRead Sequencing PENG Zhiyu
12:20 – 12:30 MGI product launch GUO Shirley
Parallel Session 1B: Advances in Genomic Diagnosis in Rare and Undiagnosed Diseases Summit 2
11:00 – 12:30 Chairpersons: DONG Elvis; MOEY Lip Hen
11:00 – 11:20 Diagnosing the Undiagnosed: A Malaysian Experience in Genomic Testing ONG Winnie Peitee
11:20 – 11:40 Clinical validation of RNAseq for rare disease diagnosis LIU Pengfei
11:40 – 12:00 Value of bioinformatics re-analysis in patients with negative exome findings MOHD Khalid
12:00 – 12:20 Whole genome sequencing in detecting multiple molecular diagnoses in a pediatric setting CHAU Matthew
12:20 – 12:30 Discussion
12:30 – 13:30 Lunch Symposium by Xcelom Summit 1
Clinical Solution for Complex Monogenic Diseases Based on SMRT Technology ZHAN Jiahan
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
Parallel Session 2A: Genetics in Reproductive Medicine Summit 1
13:30 – 15:00 Chairpersons: CHAN David; Rahmah Binti Saaid
13:30 – 13:50 Structural variant as an underappreciated factor to human infertility DONG Elvis
13:50 – 14:10 All-in-one PGT testings CHOY Richard
14:10 – 14:30 Preconception workup in consanguineous couples KRISHNAN Vivek
14:30 – 14:50 Abstract Presentation
1. Molecular genetic characterization of premature ovarianinsufficiencythrough patients with X;autosome translocation CHEN Lin
2. Identification of cryptic chromosomal rearrangements through Optical Genome Mapping ZHOU Chunxiang
14:50 – 15:00 Discussion
Parallel Session 2B: Inborn Errors of Metabolism Summit 2
13:30 – 15:00 Chairpersons: CHONG Shuk Ching; LEONG Huey Yin
13:30 – 13:50 Use of metabolomics in inborn errors of metabolism SCAGLIA Fernando
13:50 – 14:10 Antenatal presentation of IEM cases CHONG Shuk Ching
14:10 – 14:30 Clinical utility of urine metabolomic profiling in diagnosis of patients with suspected IEM LAW Eric
14:30 – 14:50 Cholestatic liver disease in childhood CHEW Hui Bein
14:50 – 15:00 Discussion
15:00 – 15:30 Tea Break
Parallel Session 3A: Spinal Muscular Atrophy Summit 1
15:30 – 17:00 Chairpersons: DONG Elvis; THONG Meow-Keong
15:30 – 15:50 Genetic carrier screening for Spinal Muscular Atrophy CAO Ye
15:50 – 16:10 Prenatal USG and genetic diagnosis of Spinal Muscular Atrophy WAH Isabella
16:10 – 16:30 Neonatal screening for Spinal Muscular Atrophy CHONG Shuk Ching
16:30 – 16:50 Gene therapy for Spinal Muscular Atrophy BACINO Carlos
16:50 – 17:00 Discussion
Parallel Session 3B: Mitochondrial Diseases Summit 2
15:30 – 17:00 Chairpersons: LO Ivan; NGU Lock Hock
15:30 – 15:50 Emerging Therapies on Mitochondrial Disease SCAGLIA Fernando
15:50 – 16:10 Mitochondrial replacement CHAN David
16:10 – 16:30 Metabolic approach to hypoglycaemia LEONG Huey Yin
16:30 – 16:50 Abstract Presentation
1. Genome Sequencing to Overcome Diagnostic Challenges in Paediatric Patients with Rare Diseases SHI Meng Meng
2. Bi-allelic pathogenic variants in the TMPRSS7 gene cause neurodevelopmental disorders LU Weiliang
16:50 – 17:00 Discussion

5th BCM-CUHK-UM Joint Symposium in

Clinical Genetics

Programme | 22 Sep 2024 | Day 2

Parallel Session 4A: Non-Invasive Prenatal Testing Summit 1
09:00 – 10:30 Chairpersons: HUI Annie; NARAYANAN Vallikannu
09:00 – 09:20 NIPT for multiple pregnancies CHOY Richard
09:20 – 09:40 NIPT for microdeletion syndromes KWAN Angel
09:40 – 10:00 NIPT and Mosaicism LEUNG Tak Yeung
10:00 – 10:20 Discordant gender result between NIPT and USG LIM Karen
10:20 – 10:30 Discussion
Parallel Session 4B: Genetic Hearing Loss Summit 2
09:00 – 10:30 Chairpersons: LIU Pengfei; HANIFFA Muzhirah
09:00 – 09:20 Genetic carrier screening for hearing loss CAO Ye
09:20 – 09:40 Neonatal screening for hearing loss KULASEGARAH Jeyanthi
09:40 – 10:00 Gene therapy for genetic deafness SHU Yilai
10:00 – 10:20 Contributions of Common Genetic Variants to Spoken Language Learning WONG Patrick
10:20 – 10:30 Discussion
10:30 – 11:00 Tea Break
Parallel Session 5A: Skeletal Dysplasia Summit 1
11:00 – 12:30 Chairpersons: WAH Isabella; ONG Winnie Peitee
11:00 – 11:20 Genetics and treatment of brittle bone disorders LEE Brendan
11:20 – 11:40 Chondrodysplasia punctata binder’s and beyond KRISHNAN Vivek
11:40 – 12:00 Challenges in prenatal diagnosis of skeletal dysplasia? LEUNG Tak Yeung
12:00 – 12:20 Abstract Presentation
1. Case series with de novo variants of dominant monogenic disorders detected by non-invasive prenatal test (NIPT) in Vietnam TANG Sang Hung
2. Prenatal Diagnosis of Fetuses with Congenital Anomalies of Kidney and Urinary Tract (CAKUT) LIU Fangzi
12:20 – 12:30 Discussion
Parallel Session 5B: Advances in Therapy for Genetic Diseases Summit 2
11:00 – 12:30 Chairpersons: BACINO Carlos; CHEW Hui Bein
11:00 – 11:20 Design and validation of antisense oligonucleotides for rare disease therapy LIU Pengfei
11:20 – 11:40 Genetic and targeted therapy of vascular malformation LEONG Kin Fon
11:40 – 12:00 Update on solid organ transplantation in inborn errors of metabolism SCAGLIA Fernando
12:00 – 12:20 Ethical issues of gene therapy in low/middle include country THONG Meow-Keong
12:20 – 12:30 Discussion
12:30 – 13:30 Lunch Symposium by Biosan Biotechnology Summit 1
Biosan Services contribute to the High-quality Development of Maternal and Child Medical Genetics YOU Ying
12:30 – 13:30 Lunch Symposium by Astrazeneca Summit 2
Real-world experience of selumetinib in neurofibromatosis Type 1 – plexiform neurofibroma in the Asian population LEE Beom Hee
Parallel Session 6A: Cyto-genomic Diagnosis Summit 1
13:30 – 15:00 Chairpersons: LIU Pengfei; TAE Sok Kun
13:30 – 13:50 Methodologies and applications in cyto-genomic laboratories DONG Elvis
13:50 – 14:10 Detection of clinically relevant monogenic copy-number variants by comprehensive genome-wide microarray with exonic coverage CHAU Matthew
14:10 – 14:30 The Nile Delta of Precision Medicine: Prenatal Genomic Care in Highly Inbred Population AL-OWAIN Mohammed
14:30 – 14:50 Incontinentia pigmenti: a glimpse of gene conversion as a disease mechanism LO Ivan
14:50 – 15:00 Discussion
Parallel Session 6B: Caner Genomics & others Summit 2
13:30 – 15:00 Chairpersons: SCAGLIA Fernando; MAZLAN Rifhan
13:30 – 13:50 Rare paediatric solid tumours FOO Jen Chun
13:50 – 14:10 Malaysia experience in mainstreaming genetic testing in cancer management YOON Sook Yee
14:10 – 14:30 Malaysia Experience in Diagnosing Hereditary Aortopathy MUZHIRAH Haniffa
14:30 – 14:50 Abstract Presentation
1. Pathogenic and likely pathogenic variants in familial breast cancer and the implication of cancer genetic counseling in patients and healthy family members: a study of 53 Indonesian familial cancer cases MUNIROH Muflihatul
2. Genomic and Neural Encoding Tests in Early Identification of Autism LAM Wai Fan Fanny
14:50 – 15:00 Discussion
15:00 – 15:30 Tea Break
15:30 – 17:30 Plenary Session 2 Summit 1
Chairpersons: LEE Brendan; CHOY Richard
15:30 – 16:00 Expanded parental carrier screening: are you ready? LEUNG Tak Yeung
16:00 – 16:30 Cancer genomics and recent advances in screening, diagnosis and therapeutics CHEONG Sok Ching
16:30 – 17:00 Advances in the diagnosis and treatment of achondroplasia BACINO Carlos