2020 Summer School of Clinical Genetics
2020 Summer School of Clinical Genetics
Aug 22, Taipei, Taiwan
- Plenaries and Classes
- Recognition of syndromes
- Web database and artificial intelligence
- NGS diagnosis of syndrome and inborn errors
- Updates in NGS technology and analysis-basic and copy number variation
- Venue
- National Taiwan University College of Medicine
- Chair
- Yin-Hsiu Chien, Taipei
- Local organizing committee
- Chien-Nan Lee, Shuan-Pei Lin, Fuu-Jen Tsai, Li-Ping Tsai, Pei-Lung Chen, Yen-Yin Chou
- Program committee
- Ni-Chung Lee (Taipei), Brian Chung (HK), Anne Tsai (USA), Wuh-Liang Hwu (Taipei)
- Organizing Secretary
- Aichu Huang, Ming-Jung Tsai, secretary of THGS
Featured International Faculty Speakers include:
- Anne Chun-Hui Tsai, MD MSc FAAP FACMG
- Professor, Department of Pediatrics & Genetics, College of Medicine, the University of Oklahoma, USA
- Brian Hon-Yin Chung, MBBS FCCMG
- President-Elect of Asia Pacific Human Genetics
- Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong
- Christian Gillisen, PhD
- Head of Bioinformatics, Genome Diagnostics Nijmegen
- Eva Maria Cutiongco-de la Paz, MD PhD
- Past president of Asia Pacific Human Genetics (2017-2019)
- Professor, National Institutes of Health, University of the Philippines Manila
- Gareth Baynam, FRACP, PhD
- Adjunct Policy Advisor on Clinical Genomics at the WA Department of Health; Program Director of the Undiagnosed Diseases Program (UDP) WA; and Head of the Western Australian Register of Developmental Anomalies
- Meow Keong Thong, Mbbs, Mpaeds, MD, FHGSA (Clinical Genetics) FASc
- Pastpresident of Asia Pacific Human Genetics (2012-2015)
- Professor, University of Malaya Medical Centre
- Nancy Yin-Hsiu Chien, MD PhD
- Professor, National Taiwan University Hospital
- Poh-San Lai,PhD
- Pastpresident of Asia Pacific Human Genetics (2015-2017)
- Professor, National University os Singapore
- Thanyachai Sura,MD
- President of Asia Pacific Human Genetics (2019-new)
- Professor, Mahidol University
Preliminary program
Morning Session (30 minutes/talk)
- Genomic medicine in Asia: economy, technology, and culture (Poh-San Lai*)
- Genetic Diversity in Asia (Eva Maria Cutiongco-de la Paz, Phillipine)
- Genetics and genomics in Thailand: challenges and opportunities (Thanyachai Sura, Thailand*)
- Clinical recognition of syndromes (Brian Chung, HK*)
- Dysmorphology in the genomic Medicine Era (Anne Tsai, USA*)
- Genetic counseling in the era of exome/genome carrier testing (Meow Keong Thong*)
Afternoon Session (mainly 30 minutes/talk)
- Introduction of NGS pipelines and annotation (Christian Gilissen*, Netherland; 60 minutes)
- Trusight Software Suite to help with interpretation of variants in rare disease (Thomas Yang*, Illumina)
- Adopting Long-Read Sequencing to Solve Rare Disease (Zuwei Qian, PacBio*)
- Lyfe Languages: Advancing the diagnosis and care of Indigenous people living with a rare disease (Gareth Baynam*, Australia; 60 minutes)
- Prioritization of exome data by image analysis (Nicole Fleischer*, USA)
- Newborn Screening – explored the possibilities (Nancy Chien, Taiwan*)
Asian Pacific Society of Human Genetics
2020 Summer School of Clinical Genetics
Aug 22, Taipei, Taiwan
Time zone: Taipei Time (GMT+8) (time zone converter: https://www.timeanddate.com/)
Session One
Chair: Shuan-Pei Lin / Duangrurdee Wattanasirichaigoon
| Speaker | Affiliation | Title | |
| 8:50AM | APSHG /THGS/Yin-Hsiu Chien | APSHG/ THGS/NTU | Welcome |
| 9:00-9:30AM | Poh-San Lai | National University of Singapore | Genomic medicine in Asia: economy, technology, and culture |
| 9:30-10:00AM | Eva Maria Cutiongco-de la Paz | National Institutes of Health, University of the Philippines Manila | TBA |
| 10:00-10:30AM | Thanyachai Sura | Mahidol University | Genetics and genomics in Thailand: challenges and opportunities |
Session Two
Chair: Fuu-Jen Tsai / Yin-Hsiu Chien
| Speaker | Affiliation | Title | |
| 10:30-11:00AM | Brian Hon-Yin Chung | The University of Hong Kong | Clinical recognition of syndromes |
| 11:00-11:30AM | Anne Chun-Hui Tsai | University of Oklahoma, USA | Dysmorphology in the genomic Medicine Era |
| 11:30-12:00PM | Meow Keong Thong | University of Malaya Medical Centre | Genetic counselling in the era of genomic medicine: evolution or revolution |
Session Three
Chair: Brian Chung / Bin Alwi Zilfalil
| Speaker | Affiliation | Title | |
| 14:00-15:00PM | Christian Gilissen | Radboud university medical center | Introduction of NGS pipelines and annotation |
| 15:00-15:30PM | Jiajia Xu | Illumina, Inc. | From 5 Million Variants to an Answer – Brief introduction to TruSight Software Suite |
| 15:30-16:00PM | Zuwei Qian | Pacific Biosciences of California, Inc. | Adopting Long-Read Sequencing to Solve Rare Disease |
| 16:00-17:00PM | Gareth Baynam | The Australian National University | Lyfe Languages: Advancing the diagnosis and care of Indigenous people living with a rare disease |
Session Four
Chair: Wuh-Liang Hwu / Lakshmi B.R
| Speaker | Affiliation | Title | |
| 17:00-17:30PM | Nicole Fleischer | FDNA, Inc. | Prioritization of exome data by image analysis |
| 17:30-18:00PM | Nancy Yin-Hsiu Chien | National Taiwan University Hospital | Newborn Screening – explored the possibilities |
| 18:00PM | Nancy Yin-Hsiu Chien/Nina Ni-Chung Lee | National Taiwan University Hospital | Closing remark |
Related links
- Asia Pacific Society of Human Genetics (APSHG)
- Taiwan Human Genetics Society
- Taiwan Association of Genetic Counseling