Reproductive Medicine
5th BCM-CUHK-UM Joint Symposium in Clinical Genetics 2024
PROGRAMME BOOK
Organisers
Department of Obstetrics & Gynaecology &
Department of Paediatrics
The Chinese University of Hong Kong
Scientific Committee
Chairperson
Brendan LEE (USA)
Tak Yeung LEUNG (Hong Kong)
Meow Keong THONG (Malaysia)
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 | |||
Invited Speakers
(In Alphabetical Order)
A-C
Professor
Human Genetics, Alfaisal University
Chairman, Department of Medical Genetics
Centre for Genomic Medicine
King Faisal Specialist Hospital and Research Center
Riyadh, Saudi Arabia
Professor, Vice Chair Clinical Affairs
Department of Molecular and Human Genetics
Baylor College of Medicine
USA
Research Assistant Professor
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
Assistant Professor
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
Research Assistant Professor
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
The Chief Scientist of Cancer Research Malaysia
Adjunct Professor
Department of Oro-Maxillofacial Surgical & Medical Sciences
Faculty of Dentistry
Universiti Malaya
Malaysia
Paediatrician and Clinical Geneticist
Deputy Head of Department
Department of Genetics
Kuala Lumpur Hospital
Malaysia
Clinical Professional Consultant
Department of Paediatrics &
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
Professor
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
D-F
Assistant Professor
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
Medical Lecturer
Department of Paediatrics
Universiti Malaya
Malaysia
G-I
Clinical Associate Professor (Honorary)
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
Principal Investigator
Postdoctoral Researcher
Institute for Genomic Statistics and Bioinformatics
University Hospital of Bonn
Germany
J-L
Associate Professor & Head
Fetal Medicine & Perinatology
Amrita Institute of Medical Sciences
Kochi
India
Associate Professor
Department of Otorhinolaryngology
Faculty of Medicine
Universiti Malaya
Malaysia
Clinical Assistant Professor (Honorary)
Department of Obstetrics & Gynaecology
The Chinese University of Hong Kong
Hong Kong
Director of the Newborn Screening Services
Senior Staff Specialist in Genetic Pathology
The Children’s Hospital at Westmead
Australia
Professor
University of Ulsan College of Medicine
Seoul
South Korea
Chair
Molecular and Human Genetics
Baylor College of Medicine
USA
Assistant Dean (Mainland Affairs)
Professor (Clinical), Team head of Fetal Medicine Team
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
Consultant Clinical Geneticist and Metabolic Specialist
Department of Genetics
Hospital Kuala Lumpur
Malaysia
Consultant Paediatric Dermatologist
Hospital Kuala Lumpur
Kuala Lumpur
Malaysia
Associate Consultant
Division of Maternal Fetal Medicine
Department of Obstetrics and Gynaecology
National University Hospital
Singapore
Associate Professor
Department of Molecular and Human Genetics
Baylor College of Medicine
USA
Honorary Clinical Associate Professor
Department of Paediatric & Adolescent Medicine
The Chinese University of Hong Kong
Hong Kong
M-R
Professor,
Department of Obstetric and Gynaecology
Faculty of Medicine
Universiti Malaya
Malaysia
Head, Genetics Department, Hospital Kuala Lumpur
Consultant Clinical Geneticist & Paediatrician
Malaysia
Genetic Counsellor
Medical Genetics Unit
University Malaya Medical Centre
Malaysia
Clinical Geneticist
Department of Clinical Genetics
Penang Hospital
Malaysia
Research Officer
IEM & Genetic Unit (NMCRC)
Institute for Medical Research
National Institutes of Health
Malaysia
Clinical Geneticist
Department of Genetics
Hospital Kuala Lumpur
Malaysia
Consultant Clinical Geneticist
Department of Genetics
Kuala Lumpur Hospital
Malaysia
Vice President, BGI Genomics Co., Ltd
Doctoral supervisor
University of Chinese Acade
Medical Lecturer
Department of Obstetrics and Gynaecology
University of Malaya
Malaysia
S-U
Professor
Department of Molecular and Human Genetics
Baylor College of Medicine
USA
Medical Lecturer
Department of Obstetric and Gynaecology
Faculty of Medicine
Universiti Malaya
Malaysia
Professor
Eye & ENT Hospital of Fudan University
China
Clinical Geneticist and Consultant Paediatrician
Genetic and Metabolism Unit
Department of Paediatrics
Faculty of Medicine
University of Malaya
Malaysia
Consultant Paediatric Geneticist
Department of Paediatrics
Universiti Malaya
Malaysia
V-Z
Consultant
Team Head for Maternal Medicine
Department of Obstetrics and Gynaecology
The Chinese University of Hong Kong
Hong Kong
Professor of Linguistics
The Chinese University of Hong Kong
Hong Kong
Certified Genetic Counsellor
Subang Jaya Medical Centre
Malaysia
Vice President of Zhejiang Biosan Biochemical Technologies Company
Member of the Birth Defect Prevention and
Control Committee in Zhejiang Preventive Medicine Association
China
Sponsorship Acknowledgement
Photo Gallery
20 Sep 2024 (Pre-congress Workshops)
21 – 22 Sep 2024 (Main Congress)