Introducing HGA2023 Invited Speakers

Peter James Abad is a registered nurse and a genetic counselor from the Philippines. He is a member of the faculty at the College of Nursing, University of the Philippines Manila and also an affiliate faculty at the MS in Genetic Counseling program at the College of Medicine of the same university. He is currently finishing his PhD in Nursing from the University of Iowa. His research area primarily focuses on improving family health by examining the process of communication of genetic information in families with inherited conditions. He is currently involved in a project that tests technology-driven intervention to support communication of genetic risks in families.

Professor Zilfalil Bin Alwi is the UNESCO Chair on Human Genetics of Thalassemia. He is a senior consultant Pediatrician & Clinical Geneticist at the Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia (USM), Kota Bharu, Malaysia.

He received his specialist training in Pediatrics (Master of Medicine (Pediatrics)) from the same university and later went to study at University of Glasgow, United Kingdom (UK) where he obtained a MSc in Medical Genetics and then to University of Aston, UK where he obtained a PhD in Pharmacogenetics.

His research interest includes population genomics (genetic diversity of the Malay ethnic group) and genomic studies on Thalassemia and other diseases common to the local population.

Prof Zilfalil is the founder and head of the Malaysian Node of the Human Variome Project (MyHVP). He is a member of the Board of Directors of Human Variome Project (HVP) International (now known as Global Variome) and is the joint chairman for Global Globin Network (GGN) -- a global project by HVP which involve the systematic collection and sharing of variation data to combat haemoglobinopathies (Thalassemia and Sickle Cell Disease). He is also a member of the Scientific Advisory Committee and the Gene/Disease Specific Database Advisory Council of Human Genome Organisation (HUGO) and the chair of the Genetic Counselling subcommittee of the HUGO Education Committee.

He has served as the Director of USM Human Genome Center from 2005 to 2009. Prof Zilfalil is the chief editor of several journals including the Malaysian Journal of Paediatrics and Child Health (MJPCH), which is the official journal of Malaysian Paediatric Association and Malaysian Journal of Human Genetics (MJHG), which is the official journal of the Malaysian Society of Human Genetics. He is a council member of the College of Pediatrics, Academy of Medicine of Malaysia and fellow of this Academy. He is the advisor for the Genetic Pathology Speciality Committee of the College of Pathologists, Academy of Medicine of Malaysia (CPathAMM). He is also the founding president of the Malaysian Society of Human Genetics.

Dr. Yoshitsugu Aoki, MD, PhD, emerged from the illustrious University of Tohoku in 2001, swiftly establishing his expertise in clinical neurology.

By 2008, he had secured his position as a consultant neurologist, further enhancing his academic prowess with a PhD in System Neuroscience from Tokyo Medical and Dental University Graduate School (TMDU) in 2011.

Dr. Aoki's collaboration with Prof. Matthew JA Wood’s laboratory at the revered University of Oxford in 2012 proved transformative.

His pioneering work in oligonucleotide treatments for neuromuscular diseases earned the prestigious "Exceptional Promise" endorsement from the UK's Royal Society in 2013.

This distinction subsequently elevated him to the esteemed roles of a Senior Research Scientist and member of Congregation at Oxford in 2014.

Presently, Dr. Aoki leads the Department of Molecular Therapy and presides over the dystrophic dog facility at the National Institute of Neuroscience, affiliated with the NCNP.

Moreover, he imparts wisdom as an Adjunct Professor at multiple eminent institutions, including TMDU, Tokyo University of Agriculture and Technology, Shinshu University and Waseda University.

Dr. Yasumichi Arai is a geriatrician and a scientist in the study of healthy aging and longevity.

He graduated from Keio University School of Medicine, and was trained in geriatric medicine (MD, PhD) at the Keio University Hospital (Tokyo, Japan).

He was a visiting scientist of the Institute of Ageing and Health, Newcastle University, UK from 2004 to 2006.

Between 2006 and 2014, he was an instructor, teaching geriatric medicine and health care for the elderly at Division of Geriatric Medicine.

In April 2014, he became an assistant professor of Center for Supercentenarian Medical Research, Keio University School of Medicine.

Since 2021, he has been a professor of Faculty of Nursing and Medical care, Keio University as well as Center for Supercentenarian Medical Research, Keio University School of Medicine.

He has involved in the Tokyo Centenarians Study, Japan Semi-supercentenarians Study.

He has also involved in the Tokyo oldest old survey of total health (TOOTH) and the Kawasaki Wellbeing Project, both of which aim to identify biomedical and lifestyle-related factors for health and wellbeing in the oldest old (85+) inhabitants in Tokyo and Kawasaki.

Dr. Sangsu Bae (Ph.D) is serving as an Associate Professor in Department of Biomedical Sciences, Seoul National University College of Medicine, Republic of Korea. He achieved Ph.D. degree in the Biophysics fiend from Seoul National University, Republic of Korea. After achieving his Ph.D. degree in 2012, he transferred his research area to genome editing field during a postdoc. He joined Hanyang University as a faculty member in 2015 and moved to Seoul National University College of Medicine in 2022. Since 2015, he has continuously worked on developing novel genome editing tools and applying CRISPR-related tools for a broad range of research areas, including the treatment of genetic diseases. He has published about 60 articles as a corresponding author (in total 95 articles) in leading academic journals involving Nature Biotechnology, Cell Stem Cell, Nature Methods, Science Advances, and Bioinformatics. He is also searving as an Associate Editor of Molecular Therapy: Cell Press from 2023.

Kym Boycott is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a Clinical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Chair of the Department of Genetics, and a Senior Scientist at the CHEO Research Institute. Dr. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health whose research program bridges clinical genomics to basic research and is focused on understanding the molecular pathogenesis of rare diseases to improve patient care and family well-being. She leads the national Care4Rare Canada Consortium integrating genomic and other –omic technologies to improve our understanding of rare disease, with a particular focus on solving the unsolved and most difficult rare diseases. To leverage these discoveries, she co-leads the Canadian Rare Diseases: Models & Mechanisms Network, established to catalyze connections between newly discovered rare disease genes and basic scientists who can rapidly study them in model systems. Globally, she moves the rare disease agenda forward as part of the Global Commission to End the Diagnostic Odyssey for Children.

Dr. Carninci Team Leader at RIKEN Center for Integrative Medical Sciences, Japan and Head of the Genomics Research Centre at the Human Technopole in Milan, Italy. Born and educated in Italy. He moved to RIKEN Japan in 1995 and got tenure in 1997. He has developed technologies for transcriptome analysis, the cap-trapper and the CAGE, which have been broadly used in the FANTOM and allowed identifying ncRNAs as the major output of the mammalian genome and providing comprehensive maps of the mammalian promoters. Currently, he is the organizer of the FANTOM6 international collaboration to decipher interactome and function of lncRNA and at a leadership position in the Human Cell Atlas (HCA) with particular focus in Asia and Japan. Author of >300 papers/reviews, >111K citations, h-index=123.

Breana is a Senior Principal Genetic Counsellor with the Genetics service in KK Women’s and Children’s Hospital, Singapore. She trained with the University of Melbourne, Australia obtaining a Graduate Diploma in Genetic Counselling in 2005 and graduated with a Master of Health Sciences (Genetic Counselling) in 2007. Since then, she has been in clinical practice with a focus on paediatric rare disease, cardiogenetics and neurogenetics. As the first formally trained genetic counsellor in Singapore, she has contributed to the development of national guidelines for the provision of clinical genetics services and testing, and chairs a workgroup to establish guidance on the roles and training standards for genetic counsellors. She is the founding chairperson of the Genetic Counsellors Society Singapore (GCSG) and also holds executive committee positions in the Asia-Pacific Society of Human Genetics and the Professional Society of Genetic Counsellors. Her main areas of interest include communication in healthcare, genetic counselling processes in the genomics era and genetic counselling education for medical professionals.

Dr Yin-Hsiu Chien is Clinical Professor at the Department of Pediatrics at the National Taiwan University in Taipei, Taiwan, and Attending Physician of the Department of Medical Genetics and Pediatrics at the National Taiwan University Hospital.

Dr. Yin-Hsiu (Nancy) Chien graduated from Chang Gung Medical School and obtained her PhD from National Taiwan University.

She undertook pediatric residency training at National Taiwan University Hospital, and completed her fellowship in Pediatric Allergy, Immunology & Rheumatology before then completing her fellowship in Medical Genetics and Metabolism, both at National Taiwan University Hospital.

Dr. Chien has made diverse contributions in the fields of inborn errors of metabolism and primary immunodeficiencies.

She is the director of the newborn screening center at National Taiwan University Hospital, which routinely screens around one third of newborn infants in Taiwan.

Dr. Chien and her team have played an important role in making Taiwan’s newborn screening programs into one of the most developed newborn screening programs in the world.

She is currently focusing on early diagnosis and improvement of treatment for Pompe disease, AADC deficiency, Spinal muscular atrophy, and other LSDs.

Brian H.Y. Chung is a Clinical Associate Professor of the Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, the University of Hong Kong (HKU). Brian is an Honorary Consultant Geneticist for the Hong Kong Children’s Hospital, Queen Mary Hospital, Duchess of Kent Children’s Hospital and the Clinical Genetic Services (Department of Health), Hong Kong. He is currently the President-Elect of the Asia Pacific Society of Human Genetics.

Brian trained at HKU (2000-2006) and University of Toronto (the Hospital for Sick Children, 2007-2010), specializing in Paediatrics and Clinical Genetics. He is a fellow of the Canadian College of Medical Geneticists and was a founding fellow of the subspecialty of Genetics & Genomics (Paediatrics) of the Hong Kong Academy of Medicine (HKAM). His research focuses on (1) the clinical application of whole genome technologies, (2) clinical genetics & genetic counselling and (3) precision medicine and multi-omics. He received the Best Young Investigator Prize of the Hong Kong College of Paediatricians in 2017.

Since 2021, Brian has been designated as the Chief Scientific Officer at the Hong Kong Genome Institute and oversees research developments for the Hong Kong Genome Project.

Dr. Eva Maria C. Cutiongco-de la Paz is Professor of Pediatrics and Genetics and is current Executive Director of the National Institutes of Health, University of the Philippines Manila. She also serves as the Director of the Health Program of the Philippine Genome Center. She finished her Doctor of Medicine degree from the UP College of Medicine in 1989 and completed her Pediatric residency at the Philippine General Hospital in 1992. She had her research fellowship in Molecular Genetics at the International Center for Medical Research at the Kobe University Graduate School of Medicine in Japan and took her subspecialty training in Clinical Genetics at The Hospital for Sick Children, University of Toronto, Canada. Her research interests include genetics of monogenic and complex genetic conditions in the Filipino population such as birth defects, cancer, diabetes mellitus, and X-linked Dystonia Parkinsonism.

Prof. Vajira Dissanayake is the Dean of the Faculty of Medicine and Senior Professor (Chair), Department of Anatomy, Genetics and Biomedical Informatics, University of Colombo, Sri Lanka. Prof. Dissanayake received his medical degree from the University of Colombo. He obtained his PhD from the University of Nottingham, UK. He has been trained in Bioethics at the Department of Bioethics at the National Institutes of Health, USA. He is a pioneer in Genetics, Genomics, Biomedical and Health Informatics, and Bioethics in Sri Lanka. He has been actively involved in research and his work was rewarded with local and international awards including the Young Investigator Awards from the Asia Oceania Federation of Obstetrics and Gynaecology and the Third World Academy of Sciences. He has published over 175 peer-reviewed manuscripts. He is the current Chairperson of the Global Genomic Medicine Collaborative (globalgenomics.org). He is an elected fellow of the National Academy of Sciences of Sri Lanka.

Dr. Dung Chi VU is the Director of Center for Medical Genetics/Genomics, Molecular Therapy, Metabolism and Endocrinology, Vietnam National Children’s Hospital (NCH), Hanoi, Vietnam. He has extensive clinical experience in medical genetics/genomics, rare and undiagnosed diseases, inherited metabolic disease and molecular endocrinology.

Dr. Dung was pediatric resident at the Medical Genetic Center of the Hospital Pediatrics of St. Antony, Catholic University of Lille, France (2001-2002). He was also the research fellow at Saint Louis University, MO, USA (2006–2009) and fellow at the Royal children’s Hospital, Melbourne, Australia. He was awarded the Pfizer Overseas Fellowship according to outstanding presentation for the Japanese Society for Inherited Metabolism Diseases in 2004. Dr Dung received several awards including Travel Award to attend the 11^th International Congress of Inborn Errors of Metabolism (ICIEM) in San Diego, California, USA in 2009; Asian Investigator Award at the 53^rd annual meeting of the Japanese Society for Inherited Metabolic diseases and the 10^th annual symposium of the Asian Society for Inherited Metabolic diseases in 2011 in Chiba, Japan.

Sultana M. H. Faradz, MD, Ph.D is a Professor of Medical Genetics at Faculty of Medicine, Diponegoro University, Indonesia. She has been trained on Medical Genetics in Japan, Australia, Netherlands, USA and Canada. She obtained her PhD on Medical Genetics at the University of New South Wales, Australia, during which she did her course on Clinical Genetics at Sydney Children Hospital. She awarded Australian Alumni Finalist in Research and Innovation from Australian Embassy, best researcher in Medicine from Bakrie foundation. She established the 1st Master program on Genetic Counseling in 2006 and teaching at Diponegoro University, reactivated Indonesian Society of Human Genetics in 2016 after >2 decades hibernated and runs Genetics Counseling clinic at Nasional Diponegoro University Hospital, Telogorejo Hospital, and supervises services/research at Prodia Genomic and Post graduate School, YARSI University. She is a member of Indonesian Academy of Science, APSHG, PSGCA, ASHG, HUGO, HGSA, ASGC and President of Indonesian Society of Genetic Counselor. Her research interest on Intellectual disability and Disorders of Sex Differentiation with published paper > 100 at peer reviewed journal H-index Scopus 21

Dr Jia Nee Foo is Nanyang Assistant Professor at the Lee Kong Chian School of Medicine, Nanyang Technological University and Deputy Director of Brain Bank Singapore. She holds a joint appointment as Senior Research Scientist at the Genome Institute of Singapore (GIS) and is a Visiting Scientist at the National Neuroscience Institute Singapore. Dr Foo obtained her BSc (Hons) in Biotechnology at Imperial College London. She then did her PhD in Genetics at the Yale University School of Medicine, USA and her postdoctoral training in human genetics at GIS before starting her own lab in 2016. She has contributed to over 100 papers in international peer-reviewed journals in the field of Parkinson’s disease genetics and other human diseases. She was one of the recipients of the Singapore National Research Foundation fellowship in 2016. Through her collaborations with the Asian Parkinson’s Disease Genetics Consortium and the Global Parkinson’s Genetics Program, she is interested in applying the latest genetic and genomic tools for the discovery of novel disease genes, functional follow-up and their potential applications towards precision medicine in Asian populations.

Christian Gilissen obtained his PhD in 2012 at the department of Human genetics of the Radboud University Medical Center on the topic of “Disease gene identification through Next Generation Sequencing”. He currently holds a chair in Genome Bioinformatics at the department of Human Genetics at the Radboud University Medical Center in Nijmegen. In addition, he serves as the head of bioinformatics within the genome diagnostics division. His research focuses on development and application of bioinformatics methods to identify the genetic causes of intellectual disabilities and on understanding the mutational mechanisms behind de novo mutations in humans. His work has been published in renowned genetic journals such as Nature, Nature Genetics, Nature Neuroscience, and the American Journal of Human Genetics. His work was rewarded with the young investigator award (2012) and Lodewijk Sandkuijl award (2023) from the Dutch Society of Human Genetics and Young investigator award from the Dutch Bioinformatics community (2014), and the Isabel Oberlé award from the European Society of Human Genetics (2014). Christian Gilissen served on the Scientific Program Committee (SPC) of the American Society of Human Genetics (2014 - 2016) and European Society of Human Genetics (2019 – 2023).

Dr Girisha is a professor of genetics at Sultan Qaboos University, Muscat. Earlier, he was heading the Department of Medical Genetics at Kasturba Medical College, Manipal which he established. He is a member of the International Society for Skeletal Dysplasia where he serves as a member of the nosology group. He is a founding member and past secretary of Indian Academy of Medical Genetics. He also serves on editorial board of four journals.

His team played a critical role in the growth of medical genetics as a specialty in India contributing to education, patient care and research (260 peer-reviewed publications and discovering 35 new diseases and their genetic bases). He is the principal investigator for 12 research projects that includes ‘Center for Rare Disease Diagnosis, Research and Training’ funded by the India Alliance. His team established the first university approved Master of Science program in Genetic Counselling in India. Eight scholars have completed PhD under his supervision.

He is a founder and director of Suma Genomics Private Limited that provides state of art genomics diagnostic services.

Dr. Xiang Guo earned her Ph.D. from Institute of Genetics and Developmental Biology at the Chinese Academy of Sciences in 2015. From 2015 to 2022, she pursued postdoctoral training in Dr. Ann Dean's laboratory at the National Institutes of Health in USA. Currently, she is a Principal Investigator at School of Medicine, University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital.

Her primary research focus on investigating the epigenetic regulatory mechanisms underlying transcription factors and epigenetic elements in regulating the expression of key genes during the development of red blood cells. Her research has unveiled significant correlations between epigenetic regulatory mechanisms and the onset and treatment of various blood diseases.

She published several papers as the first or corresponding author in journals such as Blood, Nucleic Acids Research and Genome Biology. Her research achievements have won academic awards such as the Nancy Nossal Fellowship Award and the Fellows Award for Research Excellence from the National Institutes of Health in USA.

Dr. Qurratulain Hasan is PhD. FNASc is a Researcher, Counselor and Teacher/Trainer of Genetics/Genomics

She is a senior consultant & HOD, Department of Genetics & Molecular Medicine, Principal Post Graduate Medical Education, Kamineni Hospitals and Research director of Kamineni Group, India.

She has guided 21 PhD students as guide and 10 as Co-guide

She has more than 140 publications and 3 book chapters

She is founder Coordinator of the first full time Post graduate Certificate Course in Medical and Genetic Counseling in India (2007- ).

Dr. Hasan is founder member and President of Board of Genetic Counseling, India (2014 - to date).

career

1974 graduated from Yamaguchi University, School of Medicine

1984-86 Georgia Medical college, USA

2000 professor of Yamaguchi Univ

2012 vice president of Yamaguchi University

2014 Retired from Yamaguchi University. Prof emeritus of Yamaguchi University

2014- Saiseikai Yamaguchi General Hospital (director of laboratory testing)

title:

1974 medical certificate (Japan), ECFMG (USA)

1981 PhD (medicine)

1984 specialist on clinical laboratory

major

clinical laboratory (clinical hematology, clinical pathology, clinical chemistry, clinical genetics, etc.)

Present Position

Professor,
Department of Genomic Medicine, Seoul National University Hospital
Department of Pediatrics, Seoul National University College of Medicine,
Division of Pediatric Neurology, Seoul National University Children’s
Hospital, Seoul Korea Director, Rare Disease Center, SNUH

Academic training

1992　M.D, Seoul National University, College of Medicine, Seoul Korea
2002　PhD, Seoul National University, College of Medicine, Seoul Korea
1992　Licensed to Practice of Medicine in Korea
1997　Korean Board of Pediatrics
2007　Korean Board of Pediatric Neurology
2015　Korean Board of Medical Genetics

Traineeship

1992 - 1993;　Internship, Seoul National University Hospital
1993 - 1997;　Residency, Department of Pediatrics, Seoul National University Children’s Hospital
1997 - 1999;　Clinical Fellow, Department of Pediatric Neurology,
1997 - 1999;　Seoul National University Children’s Hospital
1999 - 2000　Research Fellow, Department of Ultrastructural Research,
1999 - 2000　National Center of Neurology and Psychiatry, Tokyo, Japan
2005 - 2006　Post Doc Fellow, Department of Neurology, College of Physician and Surgeon,
2005 - 2006　Columbia University, NY

Professional organization and societies

Member of Korean Pediatric Society
Member of Korean Child Neurology Society
Member of Korean Society of Medical Genetics and Genomics
Member of world muscle society
Member of Asia Oceanian Muscle Center
Member of Asia Oceanian Child Neurology Society

2022 - Present Vice-President, Korean Child Neurology Society
2015 - Present Executive Board of Asian Oceanian Muscle Center
2019 - Present Director, Coordinating Center, Korea Rare Disease Network
2021 - Present, Chair, Scientific Committee Korean Society of Medical Genetics& Genomics

230 Peer Review SCI Publications
Major Research Interests:

- Medical genetics and genomics in Rare diseases
- Neuromuscular disorders
- Neurodevelopmental Disorders
- Mitochondrial disorders
- Neurodegenerative diseases

Akitsu Hotta is a Junior Associate Professor at CiRA, Kyoto University. He obtained his Ph.D. in gene engineering from Nagoya University in 2006 by studying transgenic chicken to produce human antibodies in their eggs by using retroviral vectors.

As a Postdoctoral fellow, he joined Dr. James Ellis’ laboratory in SickKids, Canada, and developed the EOS pluripotency reporter to aid isolation of reprogrammed iPS cells.

In 2010, he joined CiRA as an Assistant Professor and started his own laboratory.

In 2015, he demonstrated that CRISPR-Cas9 genome editing could be used to repair the mutation of the Dystrophin gene, which is the root cause of Duchenne muscular dystrophy, in patient-derived iPS cells.

Furthermore, he demonstrated that selective disruption of multiple HLA genes could enhance cellular immune compatibility against killer T and NK cells.

He continues striving to develop novel genetic tools to realize iPS cell and gene therapies for intractable diseases.

Dr. Tomohiko Ishihara, Specially appointed Associate professor, Advanced treatment of Neurological Diseases Branch, Brain Research Institute (BRI), Niigata University. Dr. Ishihara received his medical degree from Niigata University. He obtained his PhD on Niigata University, Japan.

ACADEMIC EDUCATION:

Ph.D. Biological Science, Nagoya University, Japan, 2002

M.S. Biological Science, Nagoya University, Japan, 2000

RESERCH & PROFESSIONAL EXPERIENCE:

2002-2003 Post-doc, Division of Biological Science, Nagoya University
(Researched the regulatory mechanisms of inflammatory cytokine signaling)
2003-2006 Post-doc, Institute for Advanced Research, Nagoya University
(Researched the mechanisms of nervous system development using zebrafish)
2006-2011 Tenure-track Associate Professor (Principal Investigator), Medical Institute of Bioregulation, Kyushu University
(Researched the mechanisms of neural development by using proteomics and zebrafish)
2006-2017 Associate Professor (Principal Investigator), Medical Institute of Bioregulation, Kyushu University
(Researched the mechanisms of Wnt/Notch signaling regulation during embryogenesis)
2017-2021 Professor, Institute for Molecular & Cellular Regulation, Gunma University
(Researched the molecular mechanisms underlying developmental robustness and tissue homeostasis; Developed an animal model which enables rapid analyses of systemic aging mechanisms)
2019-present Professor, Research Institute for Microbial Diseases, Osaka University
(Researched the mechanisms underlying vertebrate systemic aging and Searched aging regulators using turquoise killifish as a model; Researched the mechanisms controlling cell competition and cellular senescence)

Dr. Young Seok Ju is an Associate Professor at the Graduate School of Medical Science and Engineering at Korea Advanced Institute of Science and Technology (KAIST), Daejeon, South Korea.

He started whole-genome analyses in 2007 (Seoul National University College of Medicine, Ph.D.) and completed the first Korean genome sequence (Nature 2009).

Then he used his genome techniques to explore cancer genome mutations He identified KIF5B-RET fusion oncogene in lung cancer (Genome Res 2011), clonal evolution of lung adenocarcinomas to small-cell carcinomas (J Clin Oncol 2017), complex genomic arrangements for fusion oncogene generation in lung cancer (Cell 2019), and mitochondrial DNA mutations in cancer (Nature Genetics 2020).

In 2015, his interest expanded to mutations in normal tissues, to systematically delineate somatic mosaicism at single-cell resolution, and to reconstruct the clonal dynamics of normal cells from the earliest stage of human life using the mutations (Nature 2017, Nature 2021, 2023).

He is also a genomics co-founder of Genome Insight Inc. which aims at revolutionizing precision medicine by translating whole-genome data for healthcare.

Dr. Kawakami is a professor of National Institute of Genetics, Mishima, Japan.

He developed a vertebrate transposon system using the Tol2 element from the medaka fish, and applied it to important genetic methods in zebrafish including BAC transgenesis, gene trapping, enhancer trapping and the Gal4-UAS system.

He and his colleagues have performed a large-scale genetic screen using those methods and generated a number of transgenic fish that expressed Gal4 in specific tissues, cells and organs.

Using these transgenic fish, it is possible to visualize and manipulate various different cell types in larval and adult stages.

He is currently studying functional neuronal circuits in the brain by calcium imaging and behavioral genetics, and modeling human disease using zebrafish.

He has published 247 peer-reviewed manuscripts and received Christiane Nüsslein-Volhard Award from European Zebrafish Society in 2021 and Commendation for Science and Technology by the Minister of Education, Culture, Sports, Science and Technology in 2023.

Dr. Hie Lim Kim received her Ph.D. in population genetics at the Graduate University for Advanced Studies in Japan. Following this, she continued her postdoctoral research at Pennsylvania State University. Dr. Kim moved to Singapore as a Senior Research Fellow at Singapore Centre for Environmental Life Sciences Engineering (SCELSE), Nanyang Technological University in 2014. In 2016, she was appointed as an Assistant Professor at the Asian School of the Environment and SCELSE at Nanyang Technological University. Currently, Dr. Kim leads the GenomeAsia 100K project that aimed to generate diverse Asian whole genome sequencing data. This profound undertaking seeks to unveil the intricate genetic diversity and compelling population histories etched within the Asian populations.

Ock-Joo Kim, M.D., Ph.D. is the Professor and Chair of History of Medicine and Medical Humanities at the Seoul National University College of Medicine, Korea.

She is also the director of the Center for Human Research Protection at the Seoul National University Hospital.

She received the M.D. (1989), and M.S. (1992) from Seoul National University, PhD (1998) in history of medicine at University of Minnesota in USA, and a postdoctoral fellowship at Harvard University until 2001.

She has been working in the field of biomedical ethics and medical humanities, having served as members of the Korean National Bioethics Review Committee, Expert Committee from 2005 till present.

She served as a Member of UESCO International Bioethics Committee 2016- 2019, the president of Korean Bioethics Association Korean Society 2020-21, and currently as a member of Executive Committee of the Korean National Commission for UNESCO.

She is an author of books and papers on research ethics, including those on genomic research. A (KNCU)

Education:

1998- 2004 School of Medicine, Keio University
2010- 2013 Graduate School of Medicine, Keio University

Professional Experience:

2004- Intern in Keio University Hospital
2006- Resident in Obstetrics and Gynecology, Keio University School of Medicine
2009- Assistant Professor in Obstetrics and Gynecology, Keio University School of Medicine
2016- Board Director of International Society of Uterus Transplantation

Society Membership:

Japan Society of Gynecologic Oncology
Japan Society of Obstetrics and Gynecology
Japan Society for Uterus Transplantation
International Society of Uterus Transplantation
Japan Society for Transplantation
Japanese Cancer Association
Japan Society of Clinical Oncology
Japanese Society of Clinical Cytology
Japan Society of Gynecologic and Obstetric Endoscopy
Japan Society of Medical Oncology
Japan Society of Gynecological and Obstetrical Surgery

Education:

2009-2013 Hokkaido University, Faculty of Agriculture
2013-2019 Kyoto University, Graduate School of Biostudies

Research History:

2016-2018 JSPS Research Fellow
2019-2020 Postdoctoral Researcher, Institute for Frontier Life and Medical Sciences, Kyoto University
2020-2022 Postdoctoral Researcher, RIKEN IMS
2022- Special Postdoctoral Researcher, RIKEN IMS

Dr. Tetsuo Kon is a researcher in comparative genomics at the University of Vienna.

He graduated from the Mie University, obtaining his medical license in 2014.

After junior residency training, Dr. Kon earned his PhD from Osaka University in 2020, supervised by Prof. Takahisa Furukawa. He later joined Prof.

Yoshihiro Omori’s laboratory at the Nagahama Institute of Bio-Science and Technology.

Since 2021, he has been affiliated with Prof. Oleg Simakov’s laboratory at the University of Vienna.

Dr. Kon’s work centers on animal genome structure and evolution.

He has conducted GWAS on goldfish, an unique model animal that underwent whole-genome duplication (WGD), identifying genetic loci associated with several phenotypes including the telescope eye (Kon 2020).

Furthermore, he demonstrated the gene expression evolution of duplicated genes by WGD (referred to as “ohnologs”) using single-cell RNA-seq of the goldfish retina (Kon 2022).

He has also contributed to several animal genome projects (Kon-Nanjo 2023). Currently, he is working on telomere-to-telomere genome assembly in various animals.

Dr. Kon's research in comparative genomics of non-human animals aims to enhance our understanding of unique human biological aspects.

Poh-San LAI heads the Human Molecular Genetics Lab of the Dept of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore (NUS). Her research interests are in neuromuscular disorders, congenital diseases, and undiagnosed disorders. Her other research focus is on population and behavioral genetics, and exploring psychosocial, lifestyle and biological determinants related to various traits. She is an adjunct Faculty member of the Genome Institute of Singapore (GIS) and Adjunct Principal Member of Technical Staff with the Defence Medical and Environmental Research Institute (DMERI), Defence Science Organization, Singapore. She serves on a number of international consortiums, advisory committees, editorial journal boards and societies. She sits on the Institutional Review Boards for the Defence Science Organization (DSO) and Singapore Armed Forces (SAF) and for Lee Kong Chian School of Medicine, Nanyang Technological University, as well as the national Bioethics Advisory Committee (BAC) in Singapore. She is President of the Biomedical Research & Experimental Therapeutics Society of Singapore, President Emeritus of the Asia-Pacific Society of Human Genetics, Deputy Chair of the NUS Institutional Biosafety Committee and Chair of MD1 Tahir Foundation Research Safety Committee. She is also a member of the executive committee of the International Federation of Human Genetics Societies (IFHGS), nominating committee of the American Society of Human Genetics (ASHG), and of the American College of Medical Genetics and Genomics (ACMG). She has also served as Director of HUGO (Human Genome Organization) and Co-chair of the Policy & Ethics Review Board of the HUGO Pan-Asian SNP Initiative (HUGO-PASNPI).

Dr Stephen Lam obtained his Bachelor of Medicine and Bachelor of Surgery degrees from the University of Hong Kong in 1976. Subsequently, he was trained in Paediatrics and Clinical Genetics in Queen Elizabeth Hospital, Hong Kong and Guy's Hospital, London. For his research on Biochemical Genetics and Cytogenetics, he was awarded Doctor of Medicine in 1988. He is now Fellow of Hong Kong College of Paediatricians, Fellow of Royal College of Physicians of Edinburgh, and Fellow of Hong Kong Academy of Medicine. He was awarded Master of Health Administration from the University of New South Wales in 1997. In 2016, he also attained the degree of Master of Buddhist Studies from the University of Hong Kong. He was founding Chairman of the Hong Kong Society of Medical Genetics in 1987, and has served incessantly on the council of this society. His main clinical activities and research are in the diagnosis and prevention of genetic diseases and ethical, legal and social issues in genetics. He has published more than 100 articles and edited two books. His was the Consultant Clinical Geneticist, Director of Genetic Laboratory and Head of Clinical Genetic Service, Department of Health, Hong Kong (1990-2015). He is an Honorary Professor of the Faculty of Medicine in the Chinese University of Hong Kong since 2012. He serves as Convenor of the Ethics Panel of the Hong Kong Family Planning Association and as a member on the Ethics Committee of the Council on Human Reproductive Technology in Hong Kong. He was a council member of the International Society for Neonatal Screening, and a committee member of the Chinese Genetics Society. He is a Past President of the Asia Pacific Society of Human Genetics (2011-12), and the International Federation of Human Genetic Societies (2012-14). He serves as editor of several international journals including Clinical Genetics. Since July 2016, he is the Director of Clinical Genetics Service and Honorary Consultant in Clinical Genetics in the Hong Kong Sanatorium and Hospital in Hong Kong.

Mercy Laurino, MS CGC, PhD is a licensed and board-certified genetic counselor.

Dr. Laurino is a Clinical Assistant Professor, University of the Philippines Manila – Philippine General Hospital MS Genetic Counseling program and Director, Fred Hutchinson Cancer Center Genetics, Prevention and High-Risk programs.

She received her MS degree in genetic counseling from the University of Colorado Health Sciences Center and PhD in Public Health Genetics from the University of Washington Institute for Public Health Genetics.

In 2011, Dr. Laurino helped launch the genetic counseling training program in the Philippines and ongoingly collaborate with medical geneticists and genetic counselors in the Asia-Pacific region.

Her clinical and research interests include hereditary cancer predisposition syndromes, public health genetics, and the return of research results.

She was the recipient of the 2016 International Leader award from the National Society of Genetic Counselors, founding president of the Professional Society of Genetic Counselors in Asia (PSGCA), and currently serving as the Asia Pacific Society of Human Genetics (APSHG) Board Secretary.

Ms. Juliana Lee is a HGSA certified genetic counselor with over 18 years clinical experience and currently working at Genetic Counselling Asia, providing private genetic counseling service since 2016.

She obtained her BSc. (Hons.) in Genetics from the National University of Malaysia in 2002, completed the Graduate Diploma in Genetic Counselling at the University of Melbourne in 2003 and graduated with Master of Counselling from University of Malaya in 2009.

She began practice at the University Malaya Medical Centre in 2004 up till 2014 before moving on to private practice.

Throughout her career, she has made significant contributions to the development of the genetic counseling profession in Malaysia and other Asian countries with the aim to improve patient access to genetic counseling and genetic testing.

She is the founding member of the Malaysian Rare Disorders Society (MRDS), President of the Professional Society of Genetic Counselors in Asia (PSGCA), Secretary of the Genetic Counselling Society Malaysia (GCSM) and a visiting lecturer of the Master of Medical Science (Genetic Counselling) program at the National University of Malaysia

Surakameth Mahasirimongkol is a Thai physician and medical researcher. He is the Deputy Director of the Medical Life Sciences Institute at the Department of Medical Sciences, Ministry of Public Health, Thailand. He received his MD degree from Mahidol University in 1998 and his PhD in International Public Health from the University of Tokyo in 2012. His research interests include pharmacogenomics, genetic epidemiology, and tuberculosis. He is the principal investigator of several research projects on these topics, and he has published over 100 papers in peer-reviewed journals. He is also a lecturer in the Department of Medical Genetics at Mahidol University and a mentor to several young researchers

Associate Professor Alison McEwen is a genetic counsellor and educator. She led the establishment of the Genetic Counselling Discipline within the Graduate School of Health at University of Technology Sydney (UTS) and the Master of Genetic Counselling program. Research interests include genetic counsellor education and training, diversity and inclusion, and the evolving roles of genetic counsellors.

Alison is the immediate past President of the Human Genetics Society of Australasia (HGSA) and is only the second genetic counsellor to take on this role. She has held leadership roles on the Board of Censors for Genetic Counselling and the Australasian Society of Genetic Counsellors.

Dr. Chen, his alma mater are U Glasgow (UK) and NTU (Taiwan), is one of the leading experts of reproductive genetics in Asia, his lab is CAP-certified since 2011 and had developed a full spectrum of reproductive genetic tests.

He sits in the editorial board of a few SCIE-indexed peer-review journals.

He is also Full Professor in a few universities in Taiwan.

He is also sitting in the Board of Trustees in a few foundations and professional societies (for example, Taiwan Society of Human Genetics).

His research focuses included high-risk pregnancy, fetal medicine, medical genetics, and evolutionary biology.

He published more than 150 academic papers in peer-review scientific journals since 1999, holds a few patents in US, China, and Taiwan.

He was elected into Fetoscopy Group since 2012. Professor Chen was also one of the free overseas invited speaker of JSHG2022.

Kiran Musunuru, MD, PhD, MPH, ML, is Professor of Cardiovascular Medicine and Genetics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the genetics of cardiovascular and metabolic disease and seeks to identify genetic factors that protect against disease and use them to develop new therapies. He is a recipient of the Presidential Early Career Award for Scientists and Engineers from the White House, the American Heart Association's Award of Meritorious Achievement and Joseph A. Vita Award, the American Philosophical Society's Judson Daland Prize for Outstanding Achievement in Clinical Investigation, the American Federation for Medical Research's Outstanding Investigator Award, Harvard University's Fannie Cox Prize for Excellence in Science Teaching, and the University of Pennsylvania's Jane M. Glick Graduate Teaching Award. He recently served as Editor-in-Chief of the scientific journal Circulation: Genomic and Precision Medicine. He is author of The CRISPR Generation: The Story of the World's First Gene-Edited Babies and Genome Editing: A Practical Guide to Research and Clinical Applications. He is co-founder and Senior Scientific Advisor of Verve Therapeutics.

Dr. Genta Nagae is the Project Associate Professor in the Genome Science and Medicine Laboratory at RCAST, the University of Tokyo. He received his medical degree and obtained his Ph.D. at the University of Tokyo. After training in clinical medicine, he has studied Cancer genomics and Epigenomics, especially for solid malignancies in gastrointestinal and hepatobiliary systems. Now, he is focusing on the integrated analysis of multi-omics profiling with high-resolution biology for cancer diagnostics and therapeutics.

Yusuke Nakamura was graduated from Osaka University School of Medicine in 1977 and spent five years as a postdoctoral fellow and a faculty member at Howard Hughes Medical Institute, the University of Utah. In 1989, he became Head of Biochemistry Department at Cancer Institute, Tokyo. In 1994, he was appointed as Professor at Institute of Medical Science, University of Tokyo and became Director of Human Genome Center in 1995. He also served as director of the RIKEN Center for genomic medicine (2005-2010). In 2011, he was appointed as Special Advisor to the Japanese Cabinet. In 2012, he moved to Department of Medicine at the University of Chicago. In 2018, he returned to Japan as Director of Cross-ministerial Strategic Innovation Promotion Program of Japanese Cabinet Office and then moved as a President, National Institutes of Biomedical Innovation, Health and Nutrition. For his accomplishment, he received many awards that include Medal with Purple Ribbon, Keio Medical Awards, Takeda Medical Award and Clarivate Citation Laureate.

Dr. Nakato got Ph.D. in informatics at the Department of Intelligence Science and Technology, Kyoto University in 2010. He moved to the University of Tokyo as a research associate and started his career as a computational genomics researcher using a next-generation sequencer (NGS). He developed multiple tools and public databases for NGS analysis, including epigenome (ChIP-seq), 3D genome (Hi-C) and single-cell analysis. Through collaborations using these tools, he has authored more than 30 articles about whole-genome analysis for various species including humans, mice, chickens, flies, and yeast.

In 2019, Nakato became a principal investigator (Lecturer) at the University of Tokyo. In 2022, he became an Associate Professor. The main research interest is a data-driven analysis using large-scale multi-omics NGS datasets.

Education and Training

Date Institution / Location Degree Field of Study
02/2001 Yonsei University, Korea B.S Biology
08/2004 Seoul National University, Korea M.E Bioinformatics
08/2007 Seoul National University, Korea Ph.D Bioinformatics

Employment and Positions

Period Affiliation Position
2007.9-2008.2 SNU Postdoctoral Associate
2008.3-2012.7 MIT/Whitehead Postdoctoral Associate
2012.9- Hanyang Univ Professor

Significant Publications (Five selected)

1. Ultra-fast Prediction of Somatic Structural Variations by Reduced Read Mapping via Pan-Genome k-mer Sets, Nature Biomed. Eng. 10.1038/s41551-022-00980-5 2022.
2. hnRNPC induces isoform shifts in miR-21-5p leading to cancer development,
EMM 54:812–824 2022
3. Tumor Immune Microenvironment lncRNAs, Briefings in Bioinformatics. 23(1):bbab504, 2022
4. Preoperative immune landscape predisposes adverse outcomes in hepatocellular carcinoma patients with liver transplantation, npj Precision Oncology 5:27, 2021.
5. Single-cell transcriptome maps of myeloid blood cell lineages in Drosophila, Nature Communications, 11:4483, 2020.

Research Interests

AI/RNA/Deign
Computational RNA Biology and Transcriptomics
Complex Genomics and Techniques

Homepage: http://big.hanyang.ac.kr

Associate Professor Joanne Ngeow, BMedSci, MBBS, FRCP, MPH is Associate Professor (Genomic Medicine) at the Lee Kong Chian School of Medicine, Nanyang Technological University Singapore and Senior Consultant, Division of Medical Oncology at the National Cancer Centre Singapore and.

A/Prof Ngeow currently heads the Cancer Genetics Service at the National Cancer Centre Singapore with an academic interest in hereditary and familial cancer syndromes, childhood cancers and translational clinical cancer genetics.

Her research centres on understanding cancer predisposition in Asia and how genomics can be used to help transform outcomes and clinical care delivery.

She is co-chair of Singapore’s National Precision Medicine Medical and Aging Working Groups.

A/Prof Ngeow’s work is funded by the National Medical Research Council Clinician Scientist Award, Ministry of Health, Ministry of Education, National Research Foundation, Terry Fox Foundation and Lee Foundation.

She serves as Associate Editor for Endocrine Related Cancers and is the Cancer Topic Editor for Human Molecular Genetics and on the NIH ClinGen PTEN Expert Panel.

Robert L. Nussbaum, MD is Invitae’s Chief Medical Officer. He received his MD from the Harvard-MIT Joint Program in Health Sciences, and internal medicine and genetics training at Washington University and at Baylor College of Medicine. He is a board certified internist, clinical geneticist and clinical molecular geneticist, a Fellow of the American College of Physicians, a Founding Fellow of the American College of Medical Genetics and Genomics and a Past Board Member and President of the American Society of Human Genetics (ASHG). From 2006-2015, he was a Professor of Medicine and Division Chief at the University of California San Francisco (UCSF). Prior to coming to UCSF he was a Branch Chief in the National Human Genome Research Institute from 1993-2006. He is the co-author of over 400 peer-reviewed publications in human genetics. In 2011, he was given the Klaus Joachim Zulch-Prize for Neurological Research for his work on Parkinson Disease from the Gertrud Reemtsma Foundation/Max Planck Society. In 2015, he was a co-recipient of the ASHG Education Award. He was elected to the National Academy of Medicine (IOM) in 2004 and the American Academy of Arts and Sciences in 2015.

Dr. Kazutaka Ohi is Associate Professor of the Departments of Psychiatry at Gifu University in Japan.

Dr. Ohi graduated from Kanazawa Medical University of Medicine in 2005.

Dr. Ohi completed initial clinical training at Osaka University Hospital in 2007, and received his Ph.D. degree from Osaka University, Graduate School of Medicine, Japan in 2011.

From 2014-2015 he was a postdoctoral fellow in the Lieber Institute for brain development, Johns Hopkins Medical Campus.

Dr. Ohi worked in the Department of Neuropsychiatry, Kanazawa Medical University, Japan as Associate Professor from 2016 to 2019, and Dr. Ohi is working at Gifu University since middle of 2019.

Dr. Ohi has been contributing to intermediate phenotypes studies in psychiatric disorders, including schizophrenia, bipolar disorder, depression, and anxiety disorders.

Dr. Ohi has published more than one hundred and eighty peer reviewed articles and has reviewed articles for many international journals.

Field of Reserch

Gene Therapy, Pediatrics, Hematology

Education

Hokkaido University School of Medicine M. D. Medicine
Kita-ku, Sapporo, 1980-1986
Hokkaido University Ph. D. Pediactrics
Kita-ku, Sapporo, 1994

Professional Experience

1986-1994　Dpt. Pediatrics, Hokkaido University
1990-1993　Dpt. Morphogenesis, Kumamoto University (Dr. SI. Nishikawa)
1994-1998　Visiting fellow in NIH (Clinical Gene Therapy Branch, Dr. RM.Blaese)
1998-2001　Dpt. Immunology, Tsukuba University (Researcher)
2001-2008　Dpt. Hematology, Tsukuba University (Assistant Prof.)
2008-
Dpt. Human Genetics, Institute, National Center for Child Health and Development (Head)
2009-
Div, Immunology, Hospital, National Center for Child Health and Development (Chief)
2019-
Gene and Cell Promotion Center, National Center for Child Health and Development (Director)

Members of the Academic Societies

Japan Society of Gene and Cell therapy, Japanese Society for Immunodeficiency and Autoinflammatory diseases, Japan Pediatric Society, American Society of Gene and Cell therapy, European Society of Gene and Cell therapy.

Recent Related Publications (5 Papers)

1. Naiki Y, Miyado M, Shindo M, et al. AAV-mediated gene therapy for patients’ fibroblasts, iPS cells, and a mouse model of congenital adrenal hyperplasia. Hum Gene Ther 33: 801-809, 2022. 2. Uchiyama T, Sirirat Takahashi S, et al. Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones. Molecular Therapy: Methods & Clinical Development 23: 424, 2021 3. Ishikawa T, Tamura E, Kasahara M, et al. Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy. J Clin Immunol. 41: 967-974, 2021. 4. Oka Y, Hamada M, Nakazawa Y, et al. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci Adv 6, wabd7197, 2020. 5. Yamaguchi T, Uchida E, Okada T, et al. Aspects of gene therapy products using current genome-editing technology in Japan. Hum Gene Ther 31: 1043-1053, 2020.

Svante Pääbo has developed techniques that allow DNA sequences from archaeological and paleontological remains to be determined. This has allowed the genomes of extinct organisms and ancient humans, animals and pathogens to be studied. His research group has determined high-quality genome sequences from Neanderthals and discovered Denisovans, a previously unknown hominin group in Asia. He has shown that both Neanderthals and Denisovans contributed DNA to present-day humans and that these contributions have physiological and medical consequences today. Pääbo also works on the comparative and functional genomics of modern and archaic humans and apes, particularly the evolution of features that may underlie aspects of traits specific to humans. In 2022, he received the Nobel Prize in Physiology or Medicine.

He is a Director at the Max-Planck Institute for Evolutionary Anthropology in Leipzig, Germany, and an Adjunct Professor at the Okinawa Institute of Science and Technology, Japan.

Dr. Pascarella received his Master's degree in Pharmaceutical Biotechnology from the University of Naples. He then enrolled in the "Structural and Functional Genomics" program at the International School for Advanced Studies in Trieste, Italy, where he worked in the Neurogenomics lab under the supervision of Prof. Stefano Gustincich. He received his Ph.D. in 2008 with a thesis on the mammalian olfactory system. In 2010 he was a awarded a Postdoctoral Fellowship by the Japanese Society for the Promotion of Science, thanks to which he joined the team of Dr. Piero Carninci at RIKEN Institute, Japan, where he currently holds the position of Senior Research Scientist.

Borut Peterlin is a clinical geneticist, neurologist, and head of the Clinical Institute of Genomic Medicine at the University Medical Center Ljubljana, Slovenia. He is past president and current vice president of the European Society for Human Genetics and chairman of the Professional Committee of the Slovenian Association for Medical Genetics. He was a member of the European Committee of Experts on Rare Diseases (EUCERD) and the Scientific Committee on Health and Environmental Risks (SCHER) at the European Commission. The main focus of his research interest is discovering new genes and mechanisms for human disorders and translating genomic methods into public health systems to improve the diagnostics of rare diseases and translate genomics into personalized medicine.

Prof. Orit Reish graduated from Medical School, Ben-Gurion University, Israel in 1983.

She completed Pediatric Specialization and served as a staff physician in Neonatal Care unit until 1992.

She subsequently embarked on her Medical Genetic Fellowship at the University of Minnesota, Minneapolis, USA, received her American Board of Medical Genetics Certification in 1996 and returned back to Israel.

She is the head of the Medical Genetics Institute at the Shamir Medical Center, Affiliated to the Medical School at Tel Aviv University, Israel from 1999-present.

She is in charge of the clinical services the Cytogenetic and the Genetic Molecular Laboratories.

She is an Associate Professor of Pediatrics, Human Molecular Genetics and Biochemistry at Tel Aviv University since 2011.

Her main research interest focuses on defining new genes, developing bioinformatics tools and characterizing genotype phenotype correlation.

Prof Reish is a Member of many academic and scientific committees including Institutional Review Boards, Ministry of Health- innovation and Development, preclinical studies committees at Tel Aviv University and is an Active fellow at the American Board of Medical Genetics and Genomics.

Yiping Shen, PhD. FACMG is an associate at the Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, an assistant Professor at the Department of Neurology/Pathology, Harvard Medical School and a co-Director of Harvard Medical School Genetic Training Program course.

He is a Fellow of American College of Medical Genetics (ACMG), Certified by American Board of Medical Genetics and Genomics (ABMGG) in 2005.

He is a member of Chinese Medical Doctor’s Association Medical Genetics subcommittee, a member of Chinese Medical Genetics Society Genetic Counseling subcommittee.

He is an adjunct professor at the Shanghai Jiaotong University School of Medicine, Fudan University School of Life Science; Distinguished Professor and director of Medical Genetics Department of Shanghai Children's Medical Center; Director of the Genetic diagnostic laboratory at Guangxi Maternal and Child Health Hospital.

Dr. Shen is an associate editor of American Journal of Medical Genetics, editor for the Chinese Journal of Pediatrics and Pediatric Investigation.

Dr. Shen is devoted to physician and genetic counselor training, as well as translational research and clinical application of genetic testing for rare diseases, particularly focusing on the genetic disorders affecting child physical and mental developments.

He is the recipient of Harvard Translational Award, Clinical Award from ACMG, Clinical Research Award from MGH, as well as a recipient of “Friendship Award of Guangxi” “Friendship awards of Jiangxi”.

He has published more than 200 peer reviewed papers with a total IF>1000 and citation>10,000.

Professor Vorasuk Shotelersuk obtained his MD with First Class Honours from Chulalongkorn University in Bangkok in 1992, finished his paediatric residency training in 1996, became a visiting associate at the NICHD and a genetics fellow at the NHGRI, NIH, USA, and received a Diploma from the American Board of Medical Genetics in 1999. Currently, he is the Associate Dean for Research Affairs, the founding and current Director of the Center of Excellence for Medical Genomics of the Faculty of Medicine, Chulalongkorn University, and the founding president of the Thai Society of Human Genetics.

He has over 250 articles in PubMed and an H-index of 41. He has received numerous awards including a UK MRC’s Newton Prize, Thailand’s Outstanding Researcher Award and Thailand’s Outstanding Scientist Award.

Dr. Catherine Lynn T. Silao is a Professor of the Department of Pediatrics, College of Medicine and Philippine General Hospital of the University of the Philippines Manila and of the National Institutes of Health Philippines. She received her medical degree from the University of the Philippines College of Medicine and obtained her doctoral degree from the Kobe University Graduate School of Medicine in Kobe, Japan where she did work on the molecular basis of Glucose-6-Phosphate dehydrogenase deficiency and of Maple Syrup Urine Disease (MSUD) among clinically diagnosed Filipino patients. She currently heads the Molecular Research and Diagnostic Unit of the Institute of Human Genetics. Her works have been published in several local and international journals and has received both local and international recognition awards.

Professor Zornitza Stark is a clinical geneticist at the Victorian Clinical Genetics Services and clinical research fellow with Australian Genomics. She completed her medical studies at the University of Oxford, before training in paediatrics at the Royal Children’s Hospital in Melbourne, and in clinical genetics at VCGS. Professor Stark is passionate about the integration of genomic testing into healthcare, particularly as a first-tier test for rare disease diagnosis in children. Since 2014, she has played a leadership role in numerous projects through the Melbourne Genomics and Australian Genomic Health Alliances, all aimed at accelerating rare disease diagnosis.

Dr. Thanyachai Sura, Professor of Medicine in the Medical Genetics and Genomics unit Department of Medicine at Ramathibodi Hospital Mahidol University Bangkok Thailand. Dr. Sura finished his training in Internal Medicine at Faculty of Medicine Ramathibodi Hospital Mahidol University then he had his further training in Molecular Genetics in England.He joined the Medical Genetics unit at Department of Medicine, Ramathibodi Hospital since 1995. He is a cofounders of the Medical Genetics training program in Thailand in 2019 and Genetic Counselling training program for healthcare personnel in 2020. Dr.Sura is currently the President of Asia Pacific Society of Human Genetics (APSHG).Dr.Sura’s main research interest is in molecular genetics and genomics. His published more than 90 articles in national and international peer-reviewed medical journals including Human Genetics, Science, Nature, Journal of Clinical Neuromuscular Disease, and PLoS One. His published research papers cover a range of topics, among which include molecular studies on the abnormal hemoglobin, descriptive studies on fragile X syndrome, Hereditary of spinocerebellar ataxia, familial cancers genetic susceptibility to tropical infections.

Dr. Jun Takayama, Associate Professor at the Department of AI and Innovative Medicine, School of Medicine, Tohoku University. He obtained his Ph.D. in Biophysics and Biochemistry from the Graduate School of Science, the University of Tokyo, in 2009. After working on Systems Biology, Biophysics, and Bioinformatics at RIKEN, he joined Tohoku University as an Assistant Professor in 2018 and focused on human genetics and genomics research. He received the 3rd Japan Medical Research and Development Awards - AMED President’s Award in 2020.

Professor Tiong Yang Tan is a clinical geneticist at Victorian Clinical Genetics Services and co-leads the Rare Disease Discovery group and Rare Disease Flagship at the Murdoch Children’s Research Institute located in The Royal Children’s Hospital in Melbourne, Australia. He is a physician-scientist with PhD in developmental biology and post-doctoral research (HKU) in rare disease and genomic analysis. He has a strong track record in phenotypic characterisation, novel gene discovery and functional analysis of rare diseases. He is widely recognised by his peers as an expert in advanced genomic analysis and integration of science with clinical medicine. From 2014-2018, Tiong co-led two Melbourne Genomics Health Alliance disease Flagships (Phase 1: Childhood Syndromes, Phase 2: Complex Care), which have developed clinical utility and health economic evidence for the use of genomic sequencing in children with rare and undiagnosed syndromes. His clinical expertise and scientific skills honed during his PhD and postdoctoral studies have led to the discovery of >15 novel disease genes (lead investigator in five), paving the way for improved clinical diagnostics, management and enhanced understanding of fundamental disease processes.

Professor Dr THONG Meow-Keong is a Consultant Clinical Geneticist at the University of Malaya Medical Centre.

He was a Fulbright Scholar and a board-certified clinical geneticist and established the first Genetics Clinic in Malaysia in 1995.

He is the current President of the College of Paediatrics, Academy of Medicine of Malaysia, Vice-President of the Medical Genetics Society of Malaysia and Advisor to the Malaysian Rare Disorders Society.

He was the Head, Department of Paediatrics, University of Malaya and past President, Asia-Pacific Society of Human Genetics in 2012.

He was the recipient of the 2022 American Society of Human Genetics Advocacy Award.

His clinical practice and research are focused on rare diseases, genomic medicine and genetic counselling.

He has published extensively in the field of paediatrics and genetic medicine in lowresource settings.

He has authored/co-authored over 110 Web-of-Science listed journal publications, 5 books, 18 book chapters including the Oxford Monograph in Medical Genetics and an IDEAS White Paper policy document entitled “Rare Diseases in Malaysia”.

He was consulted by the World Health Organization and the Ministry of Health Malaysia on various technical issues and clinical practice guidelines.

He has received major research awards and research grants and has collaborations with major universities and non-governmental organizations globally.

He was elected a Fellow of the Academy of Sciences Malaysia, Academy of Medicine of Malaysia and Academy of Medicine Singapore.

Duangrurdee Wattanasirichaigoon, is currently a Professor of Pediatrics and Chief of the Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University.

She is the Vice President of Thai Medical Genetics and Genomics Association (TMGGA); a board member of the Asia Pacific Society of Human Genetics; a co-founder of Prader-Willi syndrome Association (PWSA; 2002) Thailand; and a co-founder of Thai Rare Disease Foundation (ThaiRDF; 2016).

Prof. Duang obtained her MD from Faculty of Medicine, Khon Kaen University; Board of Pediatrics from Ramathibodi Hospital; Diploma of the American Board of Medical Genetics in Clinical Genetics and Clinical Molecular Genetics, from the Boston Children’s Hospital, Harvard University, MA, in 1999.

Her researches involved clinical and molecular aspects of various rare genetic diseases; inborn metabolic disorders including lysosomal storage diseases, especially Gaucher disease, and citrin deficiency; genetics of congenital hearing loss.

Prof. Duang has been actively involved in rare disease policy advocacy in Thailand since 2011.

Professor Xianjun, Center for Medical Genetics, Sichuan Provincial People's Hospital.

Dr. Zhu graduated from the School of Life Sciences at Peking University in 1997.

He received his Ph.D. degree from the University of Texas at Austin, USA, in 2006.

His main research interest is molecular mechanisms and therapy development for retinal diseases. He has published more than 70 academic papers in internationally renowned journals, including Journal of Clinical Investigation, Genetics in Medicine, Molecular Therapy, PLoS Genetics, BMC Biology, Human Molecular Genetics, Cell Disease and Differentiation, and has been granted 20 national invention patents and 1 international patent.