Tentative Scientific Programme 30th November 2010 (Tuesday) Time Venue 13:00 - Registration G/F Exhibition Hall 18:30 JHF Workshop on Alliance of Patient Advocates Chair: Stephen Lam, Fernando Cheung W 1.1 Christina Hellmann How to raise and take care of a child with Orphan Disease W 1.2 Kin-Ping Tsang 14:30 Medical Genetics and Patients’ Engagement - G/F Pao Yue Kong Auditorium W 1.3 Min-Chieh Tseng 16:30 Advocacy and Services for the Patients in Taiwan: The Case of Taiwan Foundation for Rare Disorders W 1.4 Stephen Ma Mucopolysaccharidosis and Rare Disease Mutual Support Group W 1.5 Ysbrand Poortman Patient/parent/family organizations and their (potential) role in care and prevention of chronic/genetic conditions 16:30 Coffee Break G/F Exhibition Hall HKUCHM Workshop on Communication and Counselling “ Advice Giving in Genetic Counselling” Chair: Angus Clarke, Chin-Peng Lee W 2.1 Srikant Sarangi & Kristina Bennert 16:45 18:30 Warrants for Advice-giving in Genetic Counselling W 2.2 Olga Zayts & Stephanie Schnurr “You may know better than I do when it comes to medical thing”: Client’s Elicitation of Advice in Prenatal Genetic Counselling in Hong Kong W 2.3 Tina-Marie Wessels “You to decide what is best for you” – Advice Giving during Decision-making in Intercultural Antenatal Genetic G/F Pao Yue Kong Auditorium Counselling Sessions W 2.4 Angus Clarke Discussion: Advice-giving in genetic counselling Affymetrix Workshop W 3.1 Brynn Levy New Frontiers in Clinical Cytogenetic Diagnosis in Reproductive Medicine & Pediatrics – The Microarray Era G/F Lim Por Yen Lecture Theatre W 3.2 Robert Klein Cancer Clinical Diagnostic Applications with Microarrays: Virtual Karyotyping with SNP Arrays 18:30 20:30 Welcome Reception G/F Exhibition Hall 1st December 2010 ( Wednesday) Time Venue 7:30 - Registration G/F Exhibition Hall 18:00 Opening Ceremony 8:00 8:30 Stephen Lam – Chairman, Organizing Committee Carmen Padilla – President, Asia Pacific Society of Human Genetics 1/F Run Run Shaw Hall Ivan Lo – Chairman, Hong Kong Society of Medical Genetics York Chow – Secretary for Food and Health Plenary Session 1 Chair: Carmen Padilla, Tai-Fai Fok PL 1.1 Richard Cotton 8:30 Progress in Human Variome Project - 1/F Run Run Shaw Hall PL 1.2 Huan-Ming Yang 10:15 Sequencing Technology and Medicine in the 21st Century PL 1.3 Wai-Yee Chan Epigenetic Regulation of Non – coding RNA in Health and Diseases 10:15 Coffee Break G/F Exhibition Hall Symposium 1 : Human Genome Variation Chair: Richard Cotton, Larry Baum S1.1 Ming Qi Human Variome Project: China Database 10:45 S1.2 Zilfalil Alwi - 1/F Run Run Shaw Hall Malaysian Human Genome Variation Project: On the Move 12:30 S1.3 Wan-Ling Yang Data Analysis in the Era of Genomic Studies and Next Generation Sequencing S1.4 Larry Baum Genome Wide Association Studies of Epilepsy Symposium 2: New Technology and Impact Chair: Richard Choy, Sumio Sugano S2.1 Hannah Hong Xue Inter-Alu next generation sequencing (IAN): a new method for genome-wide detection of hot-spot mutations S2.2 Sumio Sugano G/F Pao Yue Kong Auditorium Human Transcriptome Analysis Using Second Generation Sequencer S2.3 Richard Choy Diagnosis of Chromosomal Abnormalities : The Application and Use of Microarray Technology S2.4 Gary Lu On the way to detect High Risk Cytogenomic Markers in Plasma Cell Myeloma more accurately Symposium 3: Epigenetics and Proteomics Chair: Wai-Yee Chan, Brian Chung S3.1 Chia-Lin Wei Dynamic of Genome Organizations and Epigenetic Networks during Pluripotent Cells Differentiation S3.2 Yi-Jun Ruan G/F Lim Por Yen Lecture Theatre Chromatin Interaction and Transcription Regulation S3.3 Suet-Yi Leung New Insight into Genetic and Epigenetic Mechanism Causing the Lynch Syndrome S3.4 Benjamin Yung Understanding of Molecules and/ or Biomarkers in Cancer Free Paper Session 1: Reproductive Genetics Chair: Mary Tang, Terence Lao FP1.1 Bei Jia Screening for Chromosomal Abnormalities in 1645 Infertile Couples Undergoing Assisted Reproductive Technology FP1.2 Hua Hu Prenatal Diagnosis of a Pregnant Woman with Mosaics Karyotype FP1.3 JM Wang 2/F Function Room Proteolipid Protein 1 (PLP1) Gene Mutations in 33 Chinese Patients with Pelizaeus-Merzbacher Disease and Prenatal Diagnosis of Five Fetuses in Three Families with PMD Probands FP1.4 Li-Yan Li Analysis of Prenatal Diagnosis Results of 206 Thalassemia Families FP1.5 Shan-Wei Feng Study on Actively Full Range Management and Service of Population Based Birth Defect Intervention Model 12:30 - Industrial Lunch Symposium (Beijing Genomics Institute – Hong Kong Ltd.) 1/F Run Run Shaw Hall 13:30 13:30 Poster Session 1/F Foyer Presidential Address Chair: Pornswan Wasant 1/F Run Run Shaw Hall Carmencita D. Padilla 14:00 Medical Genetics in Asia – Pioneering Efforts, Now and the Future - Plenary Session 2: 15:45 Chair: Xue Zhang PL 2.1 Li Jin 1/F Run Run Shaw Hall PL 2.2 Lin He GWAS of Complex Disease in the Chinese Population 15:45 Coffee Break G/F Exhibition Hall Symposium 4: Genetics in Populations Chair: Albert Lam, Kwang-Jen Hsiao S4.1 Kwang-Jen Hsiao 16:15 Tetrahydrobiopterin Synthesis Deficient Hyperphenyl-alaninemia in East Asian - 1/F Run Run Shaw Hall S4.2 Hui-Jun Yuan 18:00 Realizing the Promise of the HGP - Identification of Genes Underlying Hereditary Hearing Loss among Chinese Population S4.3 Nelson Tang Genome-wide Genotypes Provide New Insights into Population Genetics and Disease Susceptibility S4.4 Lee Schulman The Role of CA-125 and Ultrasound in the Management of Women at Increased Risk for Epithelial Ovarian Cancer Symposium 5 : Complex Diseases Chair: Lin He, Juliana Chan S5.1 Juliana Chan Diabetes and Co-Morbidities - Using Genomics to Unravel Multicausality S5.2 Maria Merce Garcia-Barcelo G/F Pao Yue Kong Auditorium Genetics of Congenital Anomalies S5.3 Pak Sham From GWAS to Risk Prediction S5.4 Chris Lau The Contrasting Roles of the Sex Chromosomes in Gender Disparity in HBV-associated Hepatocellular Carcinoma Symposium 6: Thalassemia Chair: Hai-Yang Law, Suthat Fucharoen S6.1 Suthat Fucharoen Thalassemia in Asia: An Overview S6.2 Vivian Chan G/F Lim Por Yen Lecture Theatre Prevention and Control of Thalassemia S6.3 Victor Boulyyankov Thalassemia and other Haemoglobinopathies: Emphasizing WHO Approaches to their Prevention and Control S6.4 Philippe Leboulch Gene Therapy for Human β-Thalassemia Free Paper Session 2: New Technologies and Impact Chair: Shee-Ping Yip, Ronald Wong FP2.1 Tiong-yan Tan 2/F Function Room YPEL1 in Craniofacial Development and the Distal 22q11.2 Syndromes FP2.2 Albert Lam Subtelomeric Aberrations in Hong Kong FP2.3 P Liu Different Genomic Rearrangements can be Associated with Copy Number Variation of the PMP22 Gene in CMT1A and HNPP FP2.4 Xiong Li Study on the Diagnosis of Chromosome Number Aberration by STR Using DHPLC Technology FP2.5 Hong Jiang Transglutaminase 6 Identified as a Novel Causative Gene of Spinocerebellar Ataxias Using Exome Sequencing 18:00 19:00 The Asia Pacific Society of Human Genetics (ASPHG) General Meeting G/F Pao Yue Kong Auditorium 2nd December 2010 (Thursday) Time Venue 7:30 - Registration G/F Exhibition Hall 19:00 Plenary Session 3 Chair: Grace Tang, Meow-Keong Thong PL 3.1 Dennis Lo 8:00 Noninvasive Fetal Genetics Analysis from Maternal Plasma - 1/F Run Run Shaw Hall PL 3.2 Edison Liu 9:45 Cancer Genome: What Can Be Learned PL 3.3 Takeyori Saheki Treatment for Citrin Deficiency Based on the Analysis of the Model Mice 9:45 Coffee Break G/F Exhibition Hall Symposium 7: Prenatal Diagnosis Chair: Mary Tang, Tze-Kin Lau S7.1 I.C. Verma Prenatal Diagnosis in India - Current Status and Future Challenges 10:15 S7.2 Tze-Kin Lau - 1/F Run Run Shaw Hall Screening for Chromosomal Anomalies by First Trimester Biochemical and Ultrasound Markers 12:00 S7.3 Chin-Peng Lee Prenatal Diagnosis and Treatment of Homozygous Alpha-Thalassemia in Hong Kong: Development and Challenges S7.4 Yi-Bin Guo The Prenatal Gene Diagnosis of 7 Kinds of Hereditary Bone Diseases Symposium 8: Cancer Genomics Chair: Lee Schulman, Samuel Kwok S8.1 Judy WC Ho Colorectal Cancer Screening – the Role of a Regional Registry S8.2 Ava Kwong G/F Pao Yue Kong Auditorium Hereditary Breast and Ovarian Cancer: The Asia Experience S8.3 Eva Cutiongco-de la Paz Genetic Polymorphisms in CYP1A1, GSTM1, GSTP1, GSTT1, NAT1 and NAT2 and Oral Cavity Cancer Risk among Filipinos S8.4 Kit-Fai Wong The Promise and Peril of Blood Cancer Cytogenetics Symposium 9: AASPP Symposium on Citrin Deficiency Chair: Yoshiyuki Okano, Pik-To Cheung S9.1 Keiko Kobayashi SLC25A13 Mutations/ Variations in Citrin Deficiency: Frequency and Distribution S9.2 Okano Yoshiyuki A Dynamic Change of Clinical Manifestation by Age in Citrin Deficiency S9.3 Yuan-Zong Song Molecular, Cellular, Scientigraphic and Clinical Analysis of a Citrin -deficient Cohort: Experience in a Chinese Pediatric Centre S9.4 Masahide Yazaki Therapeutic Approaches for Patients with Adult-onset Type II Citrullinemia (CTLN2) S9.5 Paul Hwu Newborn Screening for Citrin Deficiency G/F Lim Por Yen Lecture Theatre Free Paper Session 3: Diagnostics, Screening and Public Health Genetics Chair: Albert Chan, Priscilla Poon FP3.1 Teguh Haryo Sasongko Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and an Exon Skipping Induced by Intraexonic Deletion of TSC2 Exon 16 FP3.2 Xue-Jiao Qin Genetic Confirmation of Thiel-Behnke Corneal Dystrophy in Two Large Chinese Families and Suggestion of a 2/F Function Room Founder Effect FP3.3 Edgar Hau Huntington Disease in Hong Kong – Genetics Perspectives FP3.4 Li-Guang Ma Research on Chinese Human Genetic Resources Information Management and Sharing FP3.5 David Chan Is Chromosome Study Needed in the Evaluation of Hypospadias? 12:00 - Industrial Lunch Symposium (Agilent Co. Ltd.) Stephen Laderman 13:00 Advanced Genomics Measurement Technologies for Personalized Medicine 13:00 Poster Sessions 1/F Run Run Shaw Hall 1/F Foyer Plenary Session 4 Chair: Ishwar Verma, Ivan Lo PL 4.1 Angus Clarke 13:30 Developments in Understanding Rett Syndrome over 20 Years - 1/F Run Run Shaw Hall PL 4.2 Ole Doering 15:15 Ethics of Human Genetics in Society: the Challenge of Interaction and Ethical Governance PL 4.3 Brad Therell The World of Newborn Screening 15:15 Coffee Break G/F Exhibition Hall Symposium 10: Assisted Reproductive Technology Chair: Clement Chan, Heston Kwong S10.1 William Yeung Preimplantation Genetic Diagnosis – an overview S10.2 Yan-Wen Xu 1/F Run Run Shaw Hall Preimplantation Genetic Diagnosis in China S 10.3 Lee Schulman Prenatal Diagnosis in Pregnancies evaluated by Preimplantation Genetic Diagnosis and Screening S10.4 Heston Kwong Regulation of Reproductive Technology in Hong Kong Symposium 11: Diagnostics and Screening Chair: Kin-Man Lui, Maureen Cleary S11.1 Jin-Sung Lee 15:45 - Molecular Characterization of the Disease Genes in Patients with Cornelia de Lange Syndrome S11.2 Xue-Fan Gu G/F Pao Yue Kong Auditorium 17:30 Current Situation of Newborn Screening in China S11.3 Jian-Hui Jiang Neonatal Screening and High Risk Screening for Inherited Inborn Errors of Metabolism in Guangzhou S11.4 Yan-Ling Yang The Diagnosis and Treatment of Chinese Patients with Organic Acidemias Symposium 12: March of Dimes Symposium on Birth Defects in the Asia Pacific Region Chair: Stephen Lam/ Christopher Howson S12.1 Christopher Howson Summary of the 2006 March of Dimes Global Report: Findings and Recommendations and 2010 WHO World G/F Lim Por Yen Lecture Theatre Health Assembly Initiative S12.2 Stephen Lam Overview of Current Status of Care and Prevention of Birth Defects in the Region S12.3 Country Reports: S12.3.1 Ishwar Verma India S12.3.2 Meow-Keong Thong Malaysia S12.3.3 Carmencita Padilla Philippine Birth Defects Surveillance Project S12.3.4 Pornswan Wasant Thailand Genzyme Workshop on Lysosomal Storage Disorders (LSO) Chair: Karen Huen W 4.1 David Sillence Peri-Transplant Use of ERT in Lysosomal Disorders G/F Pao Yue Kong Auditorium W 4.2 Paul Hwu 17:30 19:00 Changing the natural history of a disease: Pompe Disease Model and Newborn Screening W 4.3 Yung Chyung Early Initiation of Enzyme Replacement Therapy in Mucopolysaccharidosis Type I and II BioRad Workshop: W 5.1 Stephen Okino Quantitative Assessment of Chromatin Structure: Analysis of Epigenetically Regulated Gene Promoters G/F Lim Por Yen Lecture Theatre W 5.2 Yan Wang Quantitative Assessment of Chromatin Structure: New Insights into Epigenetic Regulation 19:00 – 21:00 Conference Banquet 1/F Run Run Shaw Hall 3rd December 2010 Time (Friday) Venue 7:30 - Registration G/F Exhibition Hall 18:00 Plenary Session 5 Chair: Ping-Yan Lam, Nelson Tang 8:00 - PL 5.1 Srikant Sarangi Inside the Blackbox of Genetic Counseling Communication 1/F Run Run Shaw Hall 9:45 PL 5.2 Hilary Burton Genetics and Mainstream Medicine: Service development and integration PL 5.3 Yuan-Tsong Chen 9:45 Coffee Break G/F Exhibition Hall Symposium 13: Genetic Counseling Chair: Arnold Christianson, David Chan S13.1 Meow-Keong Thong Genetic Counseling in a Multi- ethnic Asian Population: Pitfalls and Challenges S13.2 Arnold Christianson Medical Genetic Counseling in Primary Health Care – A South Africa Experience 10:15 12:00 1/F Run Run Shaw Hall S13.3 Wei Li Online Genetic Counselling for Albinism in China S13.4 Claire Penn Intercultural Genetic Counselling: Factors Influencing our Services Symposium 14: Public Health Genomics Chair: Chao-Ming Lin, Edgar Hau S14.1 Kaori Muto Regulatory Policy Options towards Direct-to-consumer Genetic Testing in Several Countries S14.2 Suli Sui G/F Pao Yue Kong Auditorium Social and Ethical Issues in Application of Genetic Testing in China S14.3 Lock-Hock Ngu Inborn Errors of Metabolism in Malaysia: Challenges and Opportunities S14.4 Irma Nippert Health Needs Assessment as a Pre-requisite for Evidence-based Service Development in Developing Countries Symposium 15: Pharmacogenomics, Personalized Medicine and New Technology Chair: Brian Tomlinson, Ching-Wan Lam S15.1 Ching-Wan Lam Genetic Testing and Personalized Medicine S15.2 Vivian Lee G/F Lim Por Yen Lecture Theatre Personalized Medicine in Anti-platelet Therapy: What is the Clinical Impact? S15.3 Sang-Seop Lee Genetic and Epigenetic Variation Affecting Cytochrome P450 Expression S15.4 Shea-Ping Yip High Resolution Melting (HRM) Analysis – An Overview and Update Free Paper Session 4: Epigenetics, Genetics in Population, Complex Disorders and Treatment Chair: Chris Lau, Tony Tong FP4.1 L Fu Epigenetic Alteration of Organic Cation Transporter Gene SLC22A3 Confers Susceptibility to Esophageal Cancer in the High-risk Northern Chinese FP4.2 Brian Chung Genome-wide Epigenetic Profiling Shows Evidence of Crosstalk Between Histone Modification and DNA Methylation in Patients with Intellectural Disability Syndrome due to JARID1c Mutations FP4.3 Nassiri Mohammadreza Population Genetic Analysis of Iranian Gilak Ethnic Data Using 8 STR Markers FP4.4 Xue-Mei Wang No Association Between the Tumor Necrosis Factor Alpha (TNF-alpha) and Obsessive-compulsive Disorder in Chinese Han Population 2/F Function Room FP4.5 Betty But Enzyme Replacement Therapy for Mucopolysaccharidosis VI (Maroteaux-Lamy) Syndrome: Experience in Hong Kong 12:00 - Industrial Lunch Symposium (Illumina Co. Ltd) Alex Helm 13:00 Illumina’s GWAS Roadmap: Next-generation Genotyping Studies in the post 1,000 Genomes Era 13:00 Poster Sessions 1/F Run Run Shaw Hall 1/F Foyer Plenary Session 6 Chair: Chok-Wan Chan, Jin-Sung Lee PL 6.1 Kwok-Yung Yuen 13:30 Novel Mechanism for Antiviral Treatment of Influenza - 1/F Run Run Shaw Hall PL 6.2 Qi Zhou 15:15 Pluripotent Stem Cells and the Potential Application in Regenerative Medicine PL 6.3 Yoichi Matsubara Towards Genomic Medicine: Challenges and Opportunities 15:15 Coffee Break G/F Exhibition Hall Symposium 16: Ethical, Legal and Social Issues Chair: Edwin Hui, Suli-Sui S16.1 Zifalil Alwi Ethical Issues in Medical Genetics in the Muslim World S16.2 Kaori Muto 15:45 - 1/F Run Run Shaw Hall Ethical, Legal and Social Issues on Genetic and Genomic Research S16.3 Pang-Chui Shaw 17:30 Teaching Bioethics in a Science Curriculum - A Personal Account S16.4 Thu-Nhanh Nguyen Metabolic Disorder and Hereditary Diseases in Vietnamese Children (Ethical, Legal and Social Issues) Symposium 17: Treatment of Diseases G/F Pao Yue Kong Auditorium Chair: Poh-San Lai, Joannie Hui S17.1 Zhang Cheng Experimental and Clinical Research on DMD Therapy with Bone Marrow Stem Cell Transplantation. (A DMD boy with bone marrow transplantation and 6 years follow up.) S17.2 Poh-San Lai Genetic Treatments for Duchenne Muscular Dystrophy S17.3 Andy Chiu The Art of Reprogramming Somatic Cells into Embryonic-like Stem Cells and its Potential Application S17.4 Thao Phuong Bui Outcome of Female Hormone and Growth Hormone Treatment in Turner Syndrome Symposium 18: Genetic Services Chair: Hing-Wing Liu, Bao-Quan Pang S18.1 Joerg Schmidtke To Test or Not to Test: The Eurogentest Clinical Utility Gene Cards S18.2 Pornswan Wasant Provision of Comprehensive Clinical Genetic Service in Thailand – Twenty Three Year Experience G/F Lim Por Yen Lecture Theatre S18.3 Arnold Christianson Establishing Primary Health Care Services for the Care & Prevention of Birth Defects in Middle- & Low-income Nations S18.4 Ulf Kristofferson How to Build Sustainable Structures for Clinical Genetic Services – Experiences from EUROGENTEST Free Paper Session 5: Genome Variation, Cancer Genomics, Pharmacogenomics and Screening Chair: Vivian Lee, Albert Lam FP5.1 Stepanov VA Eurasian Genetic Landscape: Gene Geography in the Mirror of Genome-wide Variability FP5.2 Ka-Pou Iong Newborn Screening in Fragile X Syndrome: A Pilot Study FP5.3 Ren-Sheng Lai Practical Application of Using Predictive Biomarkers to Select Patient with Metastatic Colorectal Cancer for Treatment with Cetuximab 2/F Function Room FP5.4 Yu-Feng Wang No Association of AhR554A/G and ARNT 189G/C with Endometriosis in Women of the Southern Han FP5.5 R. Ankathil Contribution of BCR-ABL Kinase Domain Mutations to Imatinib Mesylate Resistance in Ph Chromosome Positive Malaysian Chronic Myeloid Leukemia Patients 17:30 18:00 Closing Ceremony 1/F Run Run Shaw Hall 4th December 2010 Time 8:00 13:00 Visit to Hong Kong Science and Technology Park Visit to Beijing Genome Institute, Hong Kong (Saturday)