2020 Summer School of Clinical Genetics

2020 Summer School of Clinical Genetics

Asia Pacific Society of Human 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
Register now!
  • 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)

  1. Genomic medicine in Asia: economy, technology, and culture (Poh-San Lai*)
  2. Genetic Diversity in Asia (Eva Maria Cutiongco-de la Paz, Phillipine)
  3. Genetics and genomics in Thailand: challenges and opportunities (Thanyachai Sura, Thailand*)
  4. Clinical recognition of syndromes (Brian Chung, HK*)
  5. Dysmorphology in the genomic Medicine Era (Anne Tsai, USA*)
  6. Genetic counseling in the era of exome/genome carrier testing (Meow Keong Thong*)

Afternoon Session (mainly 30 minutes/talk)

  1. Introduction of NGS pipelines and annotation (Christian Gilissen*, Netherland; 60 minutes)
  2. Trusight Software Suite to help with interpretation of variants in rare disease (Thomas Yang*, Illumina)
  3. Adopting Long-Read Sequencing to Solve Rare Disease (Zuwei Qian, PacBio*)
  4. Lyfe Languages: Advancing the diagnosis and care of Indigenous people living with a rare disease (Gareth Baynam*, Australia; 60 minutes)
  5. Prioritization of exome data by image analysis (Nicole Fleischer*, USA)
  6. 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
10:00-11:30AM 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

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