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13th Asia Pacific Conference on Human Genetics
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M E S S AGE
My warmest greetings to the organizers and participants of the 13th Asia Pacific
Conference on Human Genetics.
May this occasion create solutions that will lead to better scientific knowledge and
practices in the academe, industry and healthcare settings. I look forward to the
outcomes of this event that will improve the clinical and medical applications of
genomics to improve our quality of life.
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13th Asia Pacific Conference on Human Genetics
ME S S AG E
To all the participants, I strongly encourage you to take this opportunity to share
knowledge and gain new insights on OMICs for health research. The DOST
commends the conference organizers for their dedication in furthering scientific
development in the country for bringing science closer to the people in the Asia
Pacific region, especially the Filipino people.
Fortunato T. de la Peña
Secretary, Department of Science and Techology
Republic of the Philippines
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M E S S AGE
The Philippine Council for Health Research and Development’s mission to foster
healthier and more productive lives among Filipinos through health research
and development, specifically in the area of OMICs for Health, is in line with the
conference theme. Through this meeting, studies of the Filipino research community,
as well as the rest of the Asia Pacific region and the world, will be highlighted
and disseminated. At the same time, this will inspire young people to explore
opportunities for research in genetics. This will surely address gaps in translating
discoveries in genomics to clinical practice by strengthening collaborations in the
Asia Pacific region.
Together, let us achieve better health services and care for our fellowmen.
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ME S S AG E
The University of the Philippines, mandated to lead in research and public service,
is committed to serving the nation and the world through our pool of faculty
and researchers. After the Philippines hosted the APCHG-HUGO Pacific joint
conference in 2008, the feasibility of setting up a Genome Center in the University
was studied and the proposal for the establishment of the Philippine Genome
Center was approved in 2009. The PGC opened its doors with the launch of the
DNA Sequencing Core Facility in 2013, followed by the launch of the Core Facility
for Bioinformatics in 2014. The Shared Genomics Core Laboratory was inaugurated
this year. Part of the mission of the PGC is to have a deeper understanding and
application of the advanced knowledge and emerging technologies in genomics and
bioinformatics in health and medicine for the benefit of Filipinos and the rest of
humanity.
The APCHG 2019 will be a vital platform for local and foreign experts to share
experiences and exchange knowledge with colleagues in the Asia Pacific Region and
different parts of the world. This conference is also an excellent opportunity for us
to promote academic collaboration with experts from foreign academic centers and
medical research institutions. I hope that the well-crafted scientific program will
further inspire and ignite interest among the participants so that they will be able
to utilize the innovative genomic tools to help them in their practice, research, and
mentorship in the field of genomics.
Mabuhay po kayo!
Danilo L. Concepcion
President, University of the Philippines
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ME S S AGE S
On behalf of the organizers of the 13th Asia Pacific Conference on Human Genetics, I would like to welcome all the
distinguished faculty, scientists, researchers, and students from the Asia Pacific region and beyond to Manila. It is a
great honor to host another conference of the Asia Pacific Society of Human Genetics.
Developments in the field of genetics and genomics have significantly improved our current understanding of human
disease in the country and all over the world. The theme of this conference ‘Advancing Translational Medicine
and Collaborations in Genomics’ aims to address gaps in translating discoveries in genomics to clinical practice by
strengthening collaborations in the Asia Pacific region.
Recognizing the presence of key resource persons at the main conference, the Institute of Human Genetics, National
Institutes of Health Philippines, worked with various groups to organize preconference workshops for the further
academic enrichment of the participants making their long travel to Manila truly worthwhile. We thank the Wellcome
Trust for hosting the Wellcome Genome Campus Advanced Course on next generation sequencing analysis for
genetic diseases; the Professional Society of Genetic Counselors in Asia for organizing the 3rd Genetic Counseling
Preconference Workshop; and the Newborn Screening Reference Center for organizing the Thalassemia Workshop
for Newborn Screening Implementers and the 4th ASEAN Congress on Medical Biotechnology and Molecular
Biosciences on Emerging Issues on Hemoglobinopathies in the Asia Pacific Region.
We value the importance of training the next generation of geneticists and genetic counselors. There will also
be iGNiTE Sessions (Genomic Networking and Training with the Experts) during the second and third day of the
conference where students and trainees can discuss undiagnosed cases with the experts.
We value the role of advocacy in our highly technical field. Immediately after the main conference, the Volunteer
Youth Leaders for Health (VYLH) Philippines will hold a national congress on ‘PADAYON: Empowering the Next
Generation of Volunteer Youth Leaders for Health in the Era of Genomics’. VYLH has been the valuable partner
of the Institute of Human Genetics and the Newborn Screening Reference Center in increasing awareness among
college students. To those of you who will stay for this postconference to share your wise words on voluntarism,
please accept my appreciation of supporting the youth.
My special acknowledgement is extended to the staff of the Institute of Human Genetics and the Newborn Screening
Reference Center as they have been the workforce in the preparations of all the pre-, post- and main conferences.
Let this conference not only deepen our understanding and appreciation of genetic disorders but also strengthen
our commitment and advocacy to safeguard the health of our people through more relevant and excellent
application of genomics.
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13th Asia Pacific Conference on Human Genetics
ME S S AG E
It has been 25 years since the first Asia Pacific Conference on Human Genetics in
Bangkok, Thailand and almost a decade since it was held in the Philippines. In line
with the theme, Advancing Translational Medicine and Collaborations in Genomics,
the presentations in this year’s conference aim to coordinate the use of new
knowledge in genomics into clinical practice and to incorporate clinical observations
and questions into generating further research in the field of genetics and genomics.
This is only possible through meaningful collaborations among colleagues in the
region and worldwide, as well as multidisciplinary collaborations among scientists,
clinical geneticists, genetic counselors and students. I hope you find the next days
opportunities to learn and meet new friends who share the same interest in the
study of human genetics and genomics. Everyone is also encouraged to consider
joining the Asia Pacific Society of Human Genetics.
I am forever grateful to the members of the Local Organizing Committee for their
dedication and hard work as well as to the members of the Executive Committee
of the Asia Pacific Society of Human Genetics and the International Advisory
Committee for their guidance and support to put together this extraordinary
conference. Thank you to our sponsors for their invaluable partnership.
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Conference Organizers
Conchita G. Abarquez
Publicity
Mercy Y. Laurino
USA
Zando F. Escultura
Lead Designer
Leniza G. de Castro-Hamoy
Cheryll J. Magbanua-Calalo
Michelle E. Abadingo
Ebner Bon G. Maceda
Ma-Am Joy R. Tumulak
Rufus Thomas Y. Adducul
Secretariat
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Institutional Sponsors
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Platinum
Institute of Human Genetics Newborn Screening Reference Newborn Screening Center – Visayas
Center
Gold
Newborn Screening Center – Central Newborn Screening Center – Southern Newborn Screening Center – Mindanao
Luzon Luzon
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Corporate Sponsors
Platinum
Perkin Elmer
Gold
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Minor Sponsors
3Billion
Baebies
Biomarin
Bio-Rad
Cegat
Blueprint Genetics
Devyser
Diamed
DNA Genotek
Gen QA
Invitae
Lifeline
MGI
MNG Laboratories
Molave
Progeny
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Special thanks to
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Pre-Conferences
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10:15 AM – 11:00 AM The Philippines Hemoglobinopathy Newborn Screening Program and Its
Challenges – Education, Screening, Follow up and Treatment
Reynaldo de Castro
Chair, Experts Committee for Hemoglobinopathies
11:00 AM - 11:30 AM Presentation of NBS results
NBS Results
Charity Jomento, Newborn Screening Reference Center
Confirmatory Results
Reynaldo de Castro, Institute of Human Genetics
Molecular Data
Catherine Lynn Silao, Institute of Human Genetics
Open Forum
11:30 AM - 12:00 NN Evaluation of Hemoglobinopathy Phenotypes when Reviewing HPLC
Chromatograms
Marco Flamini (USA)
12:00 NN - 01:30 PM Lunch
01:30 PM - 03:00 PM Interpreting Results
Carolyn Hoppe
Mr. Marco Flamini
Open Forum
03:00 PM - 04:00 PM Presentation of Interesting Cases
Reactors: Bradford Therrell, Carolyn Hoppe, Marco Falamini
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Pre-Conferences
Target Audience
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Pre-Conferences
Attendees:
yy Genetic counselors and genetic counseling students
yy Medical doctors, nurses and researchers interested in the practice of genetic
counseling
Aims:
1. Advance the genetic counseling profession in the Asian region.
2. Provide education and enhance community engagement among genetic
counseling practitioners.
3. Opportunity to engage with colleagues and obtain professional development for
genetic counselors.
Objectives:
1. Illustrate the importance and complexities when empowering patients with a
genetic condition and their families.
2. Describe the development of the genetic counseling profession across the globe.
3. Identify and integrate counseling techniques in challenging psychosocial genetic
counseling sessions.
4. Understand the logistics when ordering genetic testing and the various
components of a genetic test result.
5. Highlight genetic counselor led research and the role of a laboratory-based
genetic counselor.
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Welcome Remarks
Eva Maria Cutiongco - de la Paz
Clinical Geneticist
President, Asia Pacific Society of Human Genetics
08:15 AM - 09:00 AM Caring for Rare Disorders
Cynthia Magdaraog
President and Founder, Philippine Society for Orphan Disorders
09:00 AM - 10:00 AM The Global State of Genetic Counseling: Diversity of the Profession,
Training and Roles
Kelly Ormond
Genetic Counselor
Co - Program Director, Stanford Genetic Counseling Training Program
10:00 AM - 10:30 AM Morning Coffee/Tea Break
10:30 AM - 11:00 AM The Important Role of a Laboratory Genetic Counselor in an Academic
Institution
Chinmayee Nagaraj
Genetic Counselor
Cincinnati Children’s Hospital
11:00 AM - 11:30 AM Invitae: Genetic Testing Simplified
Sam Martin
Genetic Counselor
Regional Manager – Asia, Invitae
11:30 AM - 12:00 PM Improving Health Outcomes for Thalassemia Patients through
Community Collaboration: Establishing Initial Data
Saahil Kejriwal
Genetic Counselor
University of Washington Institute for Public Health Genomics
12:00 PM - 01:30 PM Lunch
Juliana Lee
Genetic Counselor, PSGCA
01:30 PM - 03:00 PM Challenging Genetic Counseling Case Presentations
Facilitators:
Yoyo Chu
Genetic Counselor, PSGCA
Jennifer Thompson
Genetic Counselor, Global Health Genetics
03:00 PM - 03:15 PM Afternoon Coffee/Tea Break
03:15 PM - 04:00 PM General Assembly: Professional Society of Genetic Counselors
in Asia Members
04:00 PM - 04:30 PM Progress and Future Directions
PSGCA – keeping up the momentum!
Mercy Laurino
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Pre-Conferences
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Day 2 is integrated with Asia Pacific Conference on Human Genetics. There are 2 simultaneous sessions
dedicated to Hemoglobinopathies
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Post-Conferences
Welcome Remarks
Sunday Rufus Thomas Adducul, I3, Congress Head, VYLH
November 10,
Message
2019 Carmencita Padilla, Founding Adviser
Acknowledgement of Partners
VYLH Video Summary: “VYLH Through The Years”
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Program at a Glance
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APCHG Conference
Day 1
November 7, 2019
Opening of Exhibits
9:30 AM - 10:00 AM
Coffee Break
10:00 AM - 11:00 AM Keynote Plenary (Rizal Ballroom ABC)
Chair: Carmencita Padilla
Organs on Chip: Advancing Therapies for Rare and Complex Diseases and Tools
for Precision Medicine
Danilo Tagle (USA)
12:00 PM - 1:00 PM Luncheon Symposium (Industry Sponsored: Perkin Elmer) (Rizal Ballroom ABC)
Newborn Screening Pilot for Duchenne muscular dystrophy (DMD) using GSP
CK-MM kit as first tier and NGS for confirmatory testing
Veronica Wiley (Australia)
01:00 PM-02:00 PM Poster Session 1
Visit to Exhibits
Simultaneous Symposia (SS)
02:00 PM-03:30 PM SS 1: Genetic Risk Assessment and Counselling in the Era of Genomics
(Rizal Ballroom A)
Chair: Felicitas Lacbawan
Moderator: Peter James Abad
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02:00 PM - 02:20 PM A: Genetic Counselling for Cancer: When Somatic Tumor Testing and Germline
Mutations Meet
Mercy Laurino (USA)
02:20 PM - 02:40 PM B: Facilitating Cascade Family Testing: Challenges And Prospects in an Under
Resource Region
02:40 PM - 03:00 PM Breana Cham (Singapore)
C: Common Ethical Issues in Genetics and Genomics: A Clinic Based Experience
Stephen Lam (Hong Kong)
03:00 PM - 03:10 PM D: Establishing A Statewide Genetic Counselors’ Association Through an
Iterative Process Free Paper
Kunal Sanghavi (USA)
03:10 PM - 03:20 PM E: Reclassification of Variants of Unknown Significant (VUS): Impact on Clinical
Management and Genetic Counseling Free Paper
Rifhan Azwani Mazlan (Malaysia)
03:20 PM - 03:30 PM Open Forum
02:00 PM - 03:30 PM SS 2:Revolutionizing Newborn Screening: New Developments and New
Dilemmas (Rizal Ballroom B)
Chair: Meow-Keong Thong
Moderator: Leniza de Castro-Hamoy
02:00 PM - 02:20 PM A: Genomic Sequencing of Newborns
Carmencita Padilla (Philippines)
02:20 PM - 02:40 PM B: Newborn Screening Beyond Metabolic Disorders: Successes and Challenges
in Introducing New Tests
Veronica Wiley (Australia)
02:40 PM - 03:00 PM C: Newborn Screening for LSDs: Current Status and Future Directions
Yin-Hsiu Chien (Taiwan)
03:00 PM - 03:10 PM D: Cystic Fibrosis in Asia, an Underestimated Problem Free Paper
Gerard Pals (Netherlands)
03:10 PM - 03:20 PM E: Newborn Screening for Lysosomal Storage Disorders: Comparing
Performance of Tandem Mass Spectrometry and Digital Microfluidics
Platforms Free Paper
Bradford Therrell (USA)
03:20 PM - 03:30 PM Open Forum
02:00 PM - 03:30 PM SS 3: Prenatal Genetics: How Genetic Technologies Are Shaping Reproductive
Decision-Making (Rizal Ballroom C)
Chair: Benjamin Roa
Moderator: April Grace Berboso
02:00 PM – 02:20 PM A: Cytogenomic Array and Prenatal Applications: Diagnostic and Counselling
Issues
Brian Chung (Hong Kong)
02:20 PM - 02:40 PM B: Prenatal Genetic Screening: Current Guidelines and Recommendations
Juliana Lee (Malaysia)
02:40 PM – 03:00 PM C: What Not to Expect When You Are Expecting: Causes of Discordant NIPT
Results
Kathleen Leppig (USA)
03:00 PM - 03:10 PM D: Clinical Implementation of Chromosomal Microarray as Aa Primary Test for
Prenatal Diagnosis in Hong Kong Free Paper
Chung Claudia Ching Yan (Hong Kong)
03:10 PM - 03:20 PM E: Experiences of Chromosome Analysis Confirmation of NIPT for Numerical
Chromosome Abnormality in Indonesia Free Paper
Hannie Kartapradja (Indonesia)
03:20 PM - 03:30 PM Open Forum
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APCHG Conference
Day 2
November 8, 2019
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8:30 AM - 10:00 AM SS 11: Solving the Brain Enigma: The Value of Genomics in Neuropsychiatric
Disorders (Rizal Ballroom C)
Chair: Stephen Lam
Moderator: Mary Anne Chiong
08:30 AM - 08:50 AM A: What Can Peripheral Gene Expression Tell Us About Autism Spectrum
Disorders (ASD)?
Richard Ebstein (Israel)
08:50 AM - 09:10 AM B: Solving the Mystery of the Genetic Cause of X-Linked Dystonia-
Parkinsonism: An Integrative Genomics for Rare Neurologic Diseases
Aloysius Domingo (USA)
09:10 AM - 09:30 AM C: Regulation of Neurofibromin 2 by MicroRNAs: Roles in Nervous System
Tumors and Other Malignancies
Reynaldo Garcia (Philippines)
09:30 AM - 09:50 AM D: Brain-on-a-Chip: Human Induced Pluripotent Stem Cells (hIPSCs) as An Ex-
vivo Tool for Genetic Classification and Personalized Medicine
Hans van Bokhoven (Netherlands)
09:50 AM - 10:00 AM Open Forum
08:30 AM - 10:00 AM SS 12: Disorders of Sexual Development: Integrating Clinical and Genetic
Approaches (Pasay AB)
Chair: Mercy Laurino
Moderator: Sylvia Estrada
08:30 AM - 08:50 AM A: Evaluation of Disorders of Sexual Development: Existing Practices and Novel
Gene Breakthroughs
Dung Vu Chi (Vietnam)
08:50 AM - 09:10 AM B: Differences of Sex Development (DSD): Pivotal Roles of Laboratory
Genomics in Diagnosis, Management, Medical Education, and Research
Inaamarillo (USA)
09:10 AM - 09:30 AM C: Gender Assignment and Counseling for Disorders of Sexual Development
Sultana Faradz (Indonesia)
09:30 AM - 09:40 AM D: Hormonal and Genotypic Profiles of Individuals Carrying Mutations at
SRD5A2 Gene Free Paper
Nanis Marzuki (Indonesia)
09:40 AM - 09:50 AM E: AR Gene Mutation Analysis of Undervirilized 46, XY Males in Indonesian
Population Free Paper
Nurin Aisyiyah Listyasari (Indonesia)
09:50 AM - 10:00 AM Open Forum
10:00 AM - 10:30 AM Coffee Break
Visit to Exhibits
10:30 AM - 12:00 PM SS 13: Improving the Landscape of LSD Care through diagnosis and
therapeutics (Sanofi Genzyme sponsored symposium) (Rizal Ballroom A)
Chair: Mary Anne Chiong
Moderator: April Grace Dion-Berboso
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10:30 AM - 10:40 AM A: Taiwan Experience of a Nationwide NBS Program for Gaucher Disease
Yin-Hsiu Chien (Taiwan)
10:40 AM - 10:50 AM B: How to Improve Gaucher Disease Diagnosis: Signs and Symptoms
Yin-Hsiu Chien (Taiwan)
10:50 AM - 11:10 AM C: Diagnosis and Treatment of Gaucher Disease
Damayanti Rusli Sjarif (Indonesia)
11:10 AM - 11:30 AM D: How to Improve MPS 1 Diagnosis
Ratna Puri (India)
11:30 AM - 11:50 AM E: Screening and Treatment of MPS in Vietnam
Dung Vu Chi (Vietnam)
11:50 AM - 12:00 PM Open Forum
10:30 AM - 12:00 PM SS 14: OMICS Technologies for Optimized and Personalized Medicine (DOST-
PCHRD Sponsored Symposium) (Rizal Ballroom B)
Chair: Barbra Cavan
Moderator: Maria Melanie Liberty Alcausin
10:30 AM - 10:50 AM A: Leptospirosis: Mechanistic Insights and Potential Molecular Prognosticators
Jose Nevado Jr. (Philippines)
10:50 AM - 11:10 AM B: Genetic Susceptibility to SLE Among Filipinos
Michael ee (Philippines)
11:10 AM - 11:30 AM C: Genetic Susceptibility to Cardiovascular Disease Among Filipinos
Eva Maria Cutiongco-de la Paz (Philippines)
11:30 AM - 11:50 AM D: Vitamin D Receptor Mutations and Fragility Fractures
Cynthia Saloma (Philippines)
11:50 AM - 12:00 PM Open Forum
10:30 AM - 12:00 PM SS 15: Illumina Genomics Session (Rizal Ballroom C)
Chair: Mark Seielstad
Moderator: Conchita Abarquez
10:30 AM - 10:50 AM A: Looking for Disease Genetic Markers Among Epigenetic Profiles
George Anene-Nzelu
10:50 AM - 11:10 AM B: Polygenic Risk Scores and Complex Disease
Peter Coleman
11:10 AM - 11:30 AM C: Polygenic Risk Scores and Breast Cancer
Jingmei Li
11:30 AM - 11:50 AM D: Accurate and Accelerated Analysis Solutions for Illumina NGS Data
Yue Ying Tan
11:50 AM - 12:00 PM Open Forum
10:30 AM - 12:00 PM SS 16: The Emerging Role of Enhancers in Gene Regulation (RIKEN Sponsored
Symposium) (Pasay A)
Chair: Catherine Lynn Silao
Moderator: Monette Faner
10:30 AM - 10:45 AM A: Overview of the Enhancerome Discovered in the FANTOM
Yoshihide Hayashizaki
10:45 AM - 11:30 AM B: Novel NET-CAGE Technology Reveals the Dynamics and Topology of Human
Cis-Regulatory Elements
Yasuhiro Murakawa
11:30 AM - 12:00 PM C: Variation and Evolution of Shh Enhancers
Toshihiko Shiroishi
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10:30 AM - 12:00 PM SS 17: Inventing the future: MD-PhDs’ researches on spotlight (PCHRD
sponsored symposium) (Pasay B)
Moderator: Leslie Michelle Dalmacio
10:30 AM - 10:40 AM A: Identification of Circulating Leptospira Among Humans and Animals in
Cabanatuan, Iloilo, Philippines
Pia Regina Fatima Zamora
10:40 AM - 10:50 AM B: Characterization of Epithelial Ovarian Cancer Patients in a Philippine
Tertiary Hospital
Ryan Cristian Lintao
10:50 AM - 11:00 AM C: Circulating MicroRNAs as Biomarkers for Hepatic Fibrosis Progression in
Schistosomiasis
Ian Kim Tabios
11:00 AM - 11:10 AM D: Metagenomic Profiling of Gut Microbiome Among the Risk Groups of
Atherosclerotic Coronary Artery Disease
Mark Joseph Abaca
11:10 AM - 11:20 AM E: Gene expression Analyses of CIDEC and S100A4 in Metastatic Human
Papillary Thyroid Carcinoma
Charles Patrick Uy
11:20 AM - 11:30 AM F: Identification of Alpha Globin Gene Mutations in Filipino Newborns
Diagnosed with Alpha Thalassemia
Mark John Girasol
11:30 AM - 11:40 AM G: Role of Hypoxia-induced Factor 1A (HIF1A) on Intermittent Hypoxia-induced
Adipose Tissue Dysfunction in Type 2 Diabetes Mellitus
Josept Mari Poblete
11:40 AM - 12:00 PM Open Forum
12:00 PM - 12:30 PM Visit to Exhibits
12:30 PM - 01:30 PM Luncheon Symposium (Industry Sponsored: Sanofi Genzyme) (Rizal Ballroom
ABC)
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Rare Are Common: How Rare Diseases Reveal Molecular Pathways for Common
Disorders
Bruno Reversade (Singapore)
04:15 PM - 05:00 PM Plenary Session 5 (Rizal Ballroom ABC)
Chair: Sultana Faradz
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APCHG Conference
Day 3
November 9, 2019
The Value of Nutrition in IEM Disorders from the Philippines ENBS Program
Mary Anne D. Chiong (Philippines)
01:00 PM - 01:30 PM Closing Ceremonies
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Venue Map
Lower Level 1 Level 1
TOILET
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ROOM
MANILA ROOM B
A B C ROOM
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ISABELA DINING
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Level 3 TERRACE
PASIG ROOM A
PARAÑAQUE PARAÑAQUE PASAY PASAY
ROOM B ROOM A ROOM B ROOM A
LOUNGE
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Conference Details
The official language of the Speakers are requested to All rooms at the Makati Shangri-La
convention is English. submit their presentations to the Manila have Wi-Fi access.
Secretariat at the Mandaluyong
Scientific Poster Exhibits Function Room (Ground Floor,
Makati Shangri-la Manila) at least
Posters will be on display at the 4 hours prior to their talk. For
Manila A/B Function Rooms. speakers giving talks at 8-10 AM,
slides should be submitted the night
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General Information
Official Languages: Filipino and Banks are open from 9:00AM The standard electricity is 220V
English to 3:00PM, Monday to Friday with a frequency of 60Hz. Plugs are
with automated teller machines flat blade 2-pin type. Most hotels
Filipino is the national language. (ATM) available 24 hours. Business provide 110V outlets.
English is also widely spoken and establishments, such as malls and
extensively used in most business supermarkets, usually operate from Liability Disclaimer
establishments. 10:00AM to 9:00PM daily.
The Local Organizing Committee
Currency Credit Cards shall not be liable for personal
accidents and injuries nor for loss or
The local currency is the Philippine Major credit cards such Visa, damage to personal belongings of
Peso (₱). MasterCard, American Express, and the delegates and/or accompanying
Diners Club are accepted in key persons.
Coins are in 1, 5, 10, 25 centavos, ₱1, business establishments.
₱5, ₱10, while banknotes are in ₱20, Insurance
₱50, ₱100, ₱200, ₱500, ₱1000. Local Climate
Currency converter site: http://www. Delegates are advised to take their
xe.com/currency converter Makati’s weather is relatively own insurance for travel, personal
moderate, with its coolest months property and health.
Visa from December to February and
its hottest from March to May. The
Nationals from countries listed temperature ranges from 23º C to Social Program
below who are traveling to the 31º C.
Philippines for business and tourism Opening Ceremonies
purposes are allowed to enter the Local Time November 7, 2019
Philippines without visas for a stay Thursday 08:30 AM – 09:30 AM
not exceeding thirty (30) days, Local Philippine time is Greenwich
provided they hold valid tickets meridian time plus 8 hours, with no Fellowship Night
for their return journey to port of daylight savings time. November 8, 2019
origin or next port of destination and Friday 07:00 PM – 09:00 PM
their passports valid for a period of Dialing Codes
at least six (6) months beyond the Closing Ceremonies
contemplated period of stay. The country code for the Philippines November 9, 2019
is +63, while for Metro Manila the Saturday 01:00 PM – 01:30 PM
For a list of countries that do not area code is +632.
require a visa prior to entry in the
Philippines, you can visit the foreign
affairs website at https://www.dfa.gov.
ph/list-of-countries-for-21-day-visa.
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Mary-Claire King, PhD, is an American Cancer Society professor in the Department of Medicine
and the Department of Genome Sciences at the University of Washington in Seattle, Washington.
She was the first to show that breast cancer is inherited in some families, as the result of mutations
in the gene that she named BRCA1. In addition to inherited breast and ovarian cancer, her research
interests include the genetic bases of schizophrenia, the genetic causes of congenital disorders in
children, and human genetic diversity and evolution. She pioneered the use of DNA sequencing for
human rights investigations, developing the approach of sequencing mitochondrial DNA preserved
in human remains, then applying this method to the identification of kidnapped children in Argentina
and subsequently to cases of human rights violations on six continents.
Dr. King grew up in Chicago. She received her BA cum laude in Mathematics from Carleton College
in Northfield, Minnesota; her PhD in Genetics from the University of California at Berkeley; and
her postdoctoral training at UC San Francisco. Her PhD dissertation with Allan Wilson was the
demonstration that protein-coding sequences of humans and chimpanzees are 99% identical. She
was Professor at UC Berkeley from 1976-1995 and at the University of Washington in Seattle since
1995.
Dr. King has served on multiple councils and study sections of the N.I.H. and the U.S. National
Academy of Sciences. She was consultant to the Commission on the Disappearance of Persons of
the Republic of Argentina and carried out DNA identifications for the United Nations War Crimes
Tribunals. She is past president of the American Society of Human Genetics and a past member of
the Council of the National Academy of Sciences.
In addition to the National Academy of Sciences, Dr. King has been elected to the American
Academy of Arts and Sciences, the National Academy of Medicine (formerly IOM), the American
Philosophical Society, and as a foreign member of the French Academy of Sciences. She has received
19 honorary doctoral degrees, from Harvard, Yale, Columbia, Princeton, Brown, Rockefeller, Leuven
(Belgium), Tel Aviv (Israel), and Ben Gurion (Israel) Universities; the University of Michigan; the State
University of New York; Rensselaer Polytechnic Institute; Hong Kong University; the University of
British Columbia; and Carleton, Smith, Bard, Dartmouth and Williams Colleges. Her awards include
the Gruber Foundation Prize in Genetics, the Dan David Prize, the Shaw Prize, the Lasker Foundation
Special Achievement Award for Medical Research, and the United States National Medal of Science.
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His research interests include Rett syndrome and mitochondrial disorders, and he has a major
research interest in the application of next generation sequencing (NGS) technologies in rare genetic
disorders. He is the Co-Lead of the Australian Genomics Health Alliance, focusing on bringing NGS
diagnostics into mainstream clinical practice in Australia.
John is a former Past President of the Human Genetics Society of Australasia. In 2010 he became a
Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the
Australian Academy of Health & Medical Sciences.
He graduated from Brunel University in 1985 in Applied Biology and received his Doctorate from
King’s College, London in 1994. He has a broad scientific background spanning both microbial and
human determinants of infectious and inflammatory diseases. His current research interests utilize
genomic applications to cover both pathogen and host aspects of infectious disease. He has over 190
publications in journals, with an impact factor averaging 9, with more than 14,000 citations in total
and an h-index of 60.
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Li Jin (China)
Vice President
Fudan University
He received his doctoral degree in genetics from the University of Texas and is an academician of
the Chinese Academy of Sciences. He is an external member of Max-Planck Society and served as a
board member of Human Genome Organization (HUGO). He is a co-organizer of the Pan-Asian SNP
Program, a co-founder and board member of International Human Phenome Consortium (IHPC), and
a co-founder of CAS-MPG Partner Institute of Computational Biology, National Center of Human
Genome at Shanghai, and Fudan Taizhou Institute of Health Sciences.
He has been awarded the Chen Award for Distinguished Academic Achievement by HUGO, the
Ho Leung Ho Lee Foundation Award for Science and Technology Achievement, Second Prize for
National Natural Science Award (twice) among others. He serves as editorial board member for nine
international academic journals, and he is the Vice President of the Chinese Anthropological Society
and Genetics Society of China.
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13th Asia Pacific Conference on Human Genetics
Dr. Edison T. Liu is the President and CEO of The Jackson Laboratory.
Previously, he was the Founding Executive Director of the Genome
Institute of Singapore, President of the Human Genome Organization,
Chairman of the Health Sciences Authority (FDA equivalent) of
Singapore; and was Scientific Director of the National Cancer
Institute’s Division of Clinical Sciences, where he led intramural clinical
translational programs. His research focuses on the genomics of human breast cancer, and on
understanding the systems logic of cancer using breast cancer as the model system. He has published
over 300 articles and books.
Dr. Liu has received numerous awards, including the AACR Rosenthal Award and the Brinker
International Award, both for breast cancer research; the Public Service Medal from Singapore
for his contributions to resolving the SARS crisis; and the Chen Award for Distinguished Academic
Achievement in Human Genetics. He was elected to the American Society of Clinical Investigation,
as a foreign member of the European Molecular Biology Organization, and as a Fellow of the
American Association for the Advancement of Science (AAAS).
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13th Asia Pacific Conference on Human Genetics
Professor Dr Zilfalil Bin Alwi is a Senior Consultant Pediatrician & Clinical Geneticist
at Hospital Universiti Sains Malaysia (USM), Kota Bharu, Kelantan. He received his
specialist training in Pediatrics from the same University and obtained his PhD in
Pharmacogenetics at University of Aston, United Kingdom. His research interests
include population genomics (genetic diversity of the Malay ethnic group) and genome
wide studies on 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 and is the Joint Chairman for Global Globin 2020 Challenge (GG2020). He 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 Pediatrics and Child Health and GENETIK, the official bulletin of
the Genetics Society of Malaysia. He is a council member of the College of Pediatrics, Academy of Medicine
of Malaysia and fellow of this Academy. He is also the founding president of the Malaysian Society of Human
Genetics.
Dr. Ina Amarillo is Associate Professor of Pathology and Immunology and Associate
Molecular Director of Cytogenetics and Molecular Pathology Lab of the Division of
Laboratory and Genomic Medicine at Washington University School of Medicine in St
Louis (WUSM). She earned her undergraduate and Master’s degrees in the Philippines
(plant and human cytogenetics research, respectively), and PhD from Florida State
University (plant molecular cytogenetics research). She extended her postdoctoral
training in molecular biology (NYU), human cytogenetics (Columbia), clinical cytogenetics (UCLA) and clinical
molecular genetics (WUSM) and joined WUSM in 2013. She is ABMGG board-certified in Clinical Cytogenetics
and board-eligible in Clinical Molecular Genetics. Her clinical diagnostic expertise role involves genetics and
genomics testing of cancer and non-cancer (constitutional) patient cases at various resolutions (karyotype,
FISH, CMA, sequencing). Dr. Amarillo is also involved in teaching graduate and medical students, residents
and fellows from various disciplines. Her research interests include genetics and genomics of cancer and
constitutional disorders. She is also heavily involved in research, education and advocacy of differences of sex
development (DSD/intersex) and gender-expansive and transgender (GET) populations.
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Ms. Breana Cham is a Principal Genetic Counsellor with the Genetics Service at the KK
Women’s and Children’s Hospital. She graduated from the University of Melbourne in
2007 with a Master of Health Sciences (Genetic Counselling). She is the first formally
trained genetic counsellor in Singapore and has been in clinical practice since 2007.
Her main areas of interest include the genetic basis of rare disease, metabolic genetics,
cardiogenetics and genetic counselling practice in the genomics era. Through her
clinical work, she has counselled many individuals and their family members to facilitate understanding of
genetic conditions and decision-making regarding genetic testing in the light of a positive family history. Breana
is also actively involved in genetics education for healthcare professionals, advocating for greater professional
recognition of the genetic counselling profession, appropriate use of genetic technologies and equipping the
next generation of genetics professionals.
Professor Ping Chen is Vice Director of Thalassemia Research Institute and Life
Sciences Institute, Guangxi Medical University, Director of National Key Clinical
Department of Endemic Diseases, the First Affiliated Hospital, Guangxi Medical
University and Director of Guangxi Key Laboratory of Thalassemia Research. She
received her Doctor of Medicine from Sun Yat-Sen Medical University, and PhD from
Guangxi Medical University. She was further trained at the Thalassemia Research Center of Mahidol University,
Thailand, and the First Department of Medicine, University of Athens School of Medicine, Greece. Her unit is
the center for prevention and treatment of thalassemia. Her research interests are molecular diagnosis and
prenatal diagnosis. She has received many awards including National Song Qing Ling Pediatrics Medical Award,
The First Award of Guangxi Scientific and Technological Progress.
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. She
graduated from Chang-Gung Medical School, undertook pediatric residency training
at the National Taiwan University Hospital, and obtained her PhD from the National
Taiwan University. Dr Chien has made diverse contributions in the field of inborn errors
of metabolism and immunodeficiency, publishing over 50 original research articles in the last 5 years. She is
Director of the Newborn Screening Center at the National Taiwan University Hospital, which routinely screens
around one-third of newborns in Taiwan. Her team, led by Dr Wuh-Liang Hwu, is devoted to the diagnosis and
treatment of lysosomal storage diseases, neurotransmitters deficiency, and neuromuscular disorders. Dr Chien’s
current work focuses on early diagnosis and improvement of treatment for Pompe Disease, AADC Deficiency,
Spinal Muscular Atrophy, and other Lysosomal Storage Diseases.
Dr. Brian Chung is a Clinical Geneticist at Queen Mary Hospital and Duchess of Kent
Children’s Hospital in Hong Kong and HKU-SZ Hospital in Shenzhen, China. He is an
Associate Professor of Pediatrics & Adolescent Medicine at the Centre for Genomic
Sciences, LKS Faculty of Medicine, University of Hong Kong. His research is focused on
the clinical applications of whole genome technologies and the study of rare genetic
diseases. He is currently the Secretary of the Asia Pacific Society of Human Genetics.
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13th Asia Pacific Conference on Human Genetics
Peter Coleman
Dr. Coleman is Senior Segment Marketing Manager Genetic Health, Illumina Asia
Pacific Japan. After completing his Bachelor of Applied Biology, Peter spent three
years working in a bovine cloning and embryology laboratory before moving into
human embryology at the Melbourne IVF as an embryologist. He transferred from
the Embryology Laboratory to the Genetics Laboratory, and in the years that followed
became the manager of the Pre-Implantation Genetics Laboratory. For the last 3 years
Dr. Coleman has worked at Illumina as Segment Marketing Manager for Reproductive Health and Genetic
Disease Testing covering Asia Pacific Japan.
Dr. Eva Maria C. Cutiongco-de la Paz is Professor of Pediatrics and Genetics and is
the current Executive Director of the National Institutes of Health, University of the
Philippines Manila. She also heads the Section of Genetics, Department of Pediatrics,
PGH. She finished her Doctor of Medicine from the UP College of Medicine and
completed Pediatrics at the Philippine General Hospital. 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. Dr Cutiongco-de la Paz is the
current President of the Asia Pacific Society of Human Genetics and a council member of the Human Genome
Organization (HUGO). Her research interests include genetics of monogenic and complex genetic conditions in
the Filipino population such as birth defects, cardiovascular disease, cancer and diabetes mellitus.
Mr. Delfin has been with the DNA Analysis Laboratory, Natural Sciences Research
Institute (NSRI), University of the Philippines Diliman (UPD) for over 20 years. Mr. Delfin’s
BSc Biology degree was from the University of the Philippines Baguio and his MSc degree
from the Molecular Biology and Biotechnology Program, National Institute of Molecular
Biology and Biotechnology, University of the Philippines Diliman. Mr. Delfin’s doctoral
fellowship training was at the Max Planck Institute for Evolutionary Anthropology,
Leipzig, Germany, through the International Max Planck Research School for Human Origins. For the formalities
of the doctorate programme, Mr. Delfin is affiliated with Leiden University Medical Center, the Netherlands. Mr.
Delfin’s early research focus was primarily on forensic genetics. Recently, Mr. Delfin focuses on human (Filipino)
population genetics, evolutionary genetics and molecular anthropology. Mr. Delfin is the Program Leader of a
Filipino Genomes Research Program at the DNA Analysis Laboratory NSRI-UPD.
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Dr. Aloysius Domingo is a clinician-scientist with a special interest on the molecular genetic
mechanisms surrounding neurologic movement disorders, including X-linked Dystonia
Parkinsonism (XDP). He graduated as an MD from the University of the Philippines Manila
and trained at the Philippine General Hospital. He then pursued graduate studies leading to a
PhD in Molecular Life Sciences at the Graduate School of the University of Lübeck and at the
Institute of Neurogenetics, through a scholarship for young academics from the German Academic Exchange Service.
His work on the genetic mechanisms surrounding XDP received the Oppenheim Prize for Dystonia, awarded by the
German Dystonia Foundation, and the Mahlon deLong Young Investigator Award from the Dystonia Medical Research
Foundation. He is currently a postdoctoral research fellow at the Center for Genomic Medicine and an investigator for
the Collaborative Center for X-linked Dystonia-Parkinsonism at the Massachusetts General Hospital, in Boston, USA.
Dr. Vu, Chi Dung is the Director of the Center for Rare Disease and Newborn Screening,
Vietnam National Children’s Hospital which is one of the best pediatric hospitals in
Vietnam. He has extensive clinical experience in medical genetics, inherited metabolic
disease and molecular endocrinology. He trained at the Hospital Pediatrics of St.
Anthony, Catholic University of Lille, France and worked as a research fellow at the
Department of Pediatrics, Saint Louis University, USA and as a fellow at Royal Children’s
Hospital, Melbourne, Australia. He has received several awards including the Pfizer Overseas Fellowship, Asian
Investigator Award in Japan, ICIEM award in USA and Award for Excellent Study in Korea.
Professor Richard P. Ebstein is currently a Professor in the China Center for Behavioral
Economics and Finance, Southwestern University of Finance and Economics (SWUFE),
Chengdu, China. He received his M.S. and Ph.D. at Yale University in Biology. He trained
in Neurochemistry with Menek Goldstein at NYU. He was a Professor in the Psychology
Department at the National University of Singapore and a Professor (now Emeritus)
in the Psychology Department at the Hebrew University in Jerusalem. His research
revolves around human behavior genetics, with the overarching goal of providing molecular insights into the role
of genes as a partial contributor to all facets of human behavior. Major research areas include neuroeconomics,
the genetics of social behavior, personality genetics, ageing and autism. He is currently a member of the China
Center for Behavioral Economics (SWUFE), an interdisciplinary team which aims to bring together genomics,
neuroscience, and behavioral and experimental economics to seek a deeper understanding of decision making
at the neural and molecular levels. He has published over 400 peer reviewed articles. The total citations for his
published papers stand at 27,645 and he has an overall H-index of 88 (i10-index 323).
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13th Asia Pacific Conference on Human Genetics
Dr. Sultana M. H. Faradz, is a Professor of Medical Genetics and Director of Center for
Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
She has been trained in Medical Genetics in Japan, Australia, the Netherlands and
Canada. She obtained her PhD on Medical Genetics at the University of New South
Wales, Sydney Australia, during which she did her course on Clinical Genetics at Sydney
Children Hospital. She initiated the MSc program on Genetic Counseling in 2006. Her
prominent research is on Fragile X syndrome in collaboration with MIND Institute UC Davis USA and DSD in
collaboration with Murdoch Children Research Institute/ University of Melbourne Australia.
Dr. 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.” In 2015 he started his own research group
on genome bioinformatics and currently holds a position as an Associate Professor,
Department of Human Genetics at the Radboud University Medical Center in Nijmegen.
In addition, he holds a part-time position 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 was rewarded with several prizes from the Dutch and European
society of human genetics.
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Dr. Yoshihide Hayashizaki obtained his MD and PhD from Osaka University Medical
School in 1982 and joined RIKEN in 1992. While conducting basic research, he worked
for approximately ten years as a physician. In 1995, he started one of the first original
omics program in Japan, and more than 20 years since then, he has led OMICs
sciences. In 2000, he launched FANTOM (Functional Annotation of the Mammalian
Genome), a large international research consortium and his group generated large-scale
transcriptome data including promotome and enhancerome analysis and transcriptional networks. Currently,
the consortium involves over 500 researchers from 20 different nations. In 2013, he started RIKEN Preventive
Medicine and Diagnosis Innovation Program (PMI). The mission of PMI is to lead the transformation of medical
care to a new era enhanced with omics science, bringing greater personalized medicine and a higher standard
of care. Dr. Hayashizaki is the Director of the Preventive Medicine and Diagnosis Innovation Program, RIKEN
Cluster for Science and Technology Hub.
Dr. Felicitas L. Lacbawan is the Vice President and Executive Medical Director of
the Advanced Diagnostics - Genetics, Genomics, R&D and Bioinformatics at Quest
Diagnostics. She is board certified in Molecular Genetic Pathology (MGP), Clinical
Genetics, Anatomic Pathology, and Clinical Pathology. She served as a faculty member
in various medical institutions and was the Section Head of Molecular Pathology at
the Robert J Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic.
She held various clinical, research and academic leadership positions at the NHGRI-NIH, Children’s National
Medical Center, George Washington University School of Medicine and Health Sciences, SUNY-Downstate
College of Medicine, and the Lombardi Cancer Center, Georgetown University Medical Center. She was a
recipient of the Interagency Personnel Agreement between CNMC and NHGRI-NIH. She is a special volunteer
of the Undiagnosed Disease Program at NIH. Her research and scholarly work are on clinical molecular genetics
and molecular pathology, including neurologic, developmental, connective tissue and vascular disorders,
chromosomal anomalies, pharmacogenomics, cancer, laboratory proficiency, test verification, and GGTR-
UM. She served on expert panels in national and international meetings, committees and working groups of
professional societies, regulatory and government organizations and the healthcare industry including the CAP,
ACMGG, CDC, Roche Molecular Center of Excellence, CLSI, and NCI-NIH Think Tank.
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13th Asia Pacific Conference on Human Genetics
Professor 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 main interests are in neuromuscular disorders, congenital diseases and
undiagnosed disorders. Her other interests are in behavior genetics and exploring
psychosocial, lifestyle and biological determinants related to various traits. She set up
the first laboratory in the country for molecular diagnosis in pediatric disorders such
as Duchenne muscular dystrophy, retinoblastoma, spinal muscular atrophy and was awarded the Singapore
National Youth Award for Science and Technology in 1998 for this work. She currently serves on a number of
international consortiums, advisory committees, editorial journal boards and societies. She is President of the
Biomedical Research & Experimental Therapeutics Society of Singapore, immediate Past President of Asia-
Pacific Society of Human Genetics, Deputy Chair of the NUS Institutional Biosafety Committee and co-Chair
of the Working Group on Gene Modifying Technologies. She has also served as Director of HUGO (Human
Genome Organization) and as member of the Scientific Advisory Board for health program at the Philippine
Genome Center.
Dr. Stephen Lam is a Fellow of Hong Kong College of Paediatricians, Fellow of Royal
College of Physicians (Edinburgh), and Fellow of Hong Kong Academy of Medicine.
He was the Consultant Clinical Geneticist, 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 was
the founding Chairman of the Hong Kong Society of Medical Genetics in 1987; Past
President of the Asia Pacific Society of Human Genetics (2011-12), and the Past President of the International
Federation of Human Genetic Societies (2012-14). He has published more than 100 articles and edited two
books. He serves as editor of several international journals. 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.
Dr. Mercy Laurino is a licensed and board-certified Genetic Counselor. She received
her MS degree in genetic counseling from the University of Colorado Health Sciences
Center and her 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 continues to 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. Dr. Laurino is a Clinical Assistant Professor at the University of the Philippines Manila –
Philippine General Hospital MS Genetic Counseling Program and manages the Seattle Cancer Care Alliance
Genetic Counseling Services and Cancer Prevention Programs. She was the recipient of the 2016 International
Leader award from the National Society of Genetic Counselors and founding president of the Professional
Society of Genetic Counselors in Asia.
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Dr. Hai Yang Law is Associate Professor and Deputy Director of National Thalassaemia
Registry (NTR) and Chief Scientific Officer and Laboratory Director of DNA Diagnostic
and Research Lab at the KK Women’s and Children’s Hospital, Singapore. She is also the
Senior Director, Research, Pediatric Academic Clinical Program, under SingHealth and
Duke NUS Graduate Medical School, Singapore. She received her D Phil degree from
Oxford University in Human Genetics. Having established the DNA Diagnostic Lab in 1992
to study the spectrum of mutations causing thalassemia in local population, her research interest remains to
be understanding the prevalence of thalassemia and related hemoglobinopathies and other common genetic
conditions in local population and developing diagnostic tests for these conditions.
Dr. Joy Yaplito-Lee obtained her Doctor of Medicine degree from the College of
Medicine, University of the Philippines Manila. She completed her pediatric residency
at the Department of Pediatrics, Philippine General Hospital. She undertook her
fellowship in Biochemical Genetics at The Children’s Hospital in Westmead, Sydney
and the Victorian Clinical Genetics Services, Murdoch Children’s Research Institute,
Melbourne, Australia. She first started her career in Metabolic Genetics at the Institute
of Human Genetics, National Institutes of Health Philippines. Currently, she is a Metabolic Consultant at the
Department of Metabolic Medicine, The Royal Children’s Hospital, Melbourne, Australia. She is a Fellow of the
Royal Australian College of Physicians, and a Clinical Senior Lecturer at the University of Melbourne.
Ms. Lee is a Genetic Counselor certified by the Human Genetics Society of Australasia
(HGSA) and Licensed Counselor with the Malaysian Board of Counsellors. As a pioneer
genetic counselor in Malaysia since 2004, she has managed numerous cases that ranged
from pediatric genetics, reproductive genetics, inborn error metabolism, rare diseases
to hereditary cancer. Throughout her career, she has made significant contributions to
the development of genetic counseling practice in Malaysia and across Southeast Asia.
She is also the current Secretary of Genetic Counselling Society Malaysia (GCSM) and Vice-President of the
Professional Society of Genetic Counselors in Asia (PSGCA).
Dr. Kathleen Leppig is the Chief of Genetics Service at the Group Health Cooperative
in Seattle, Washington, USA. She is concurrently a Clinical Associate Professor at the
Department of Pathology, University Washington Seattle. She is board certified in
Clinical Genetics and Cytogenetics by the American Board of Medical Genetics and
a Fellow of the American Academy of Pediatrics and American College of Medical
Genetics. Dr. Leppig has published a number of articles in international refereed
journals and serves as peer reviewer for the American Journal of Medical Genetics and Genetics in Medicine.
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13th Asia Pacific Conference on Human Genetics
Jingmei Li (Singapore)
Systems biologist Yasuhiro Murakawa is the Team Leader of the RIKEN-IFOM Joint
Laboratory for Cancer Genomics. He graduated from Kyoto University School
of Medicine in 2008. He then worked as a medical doctor at the Department of
Hematology and Oncology in Kyoto University Hospital. Motivated to understand
complex biological systems in health and disease using the state-of-the-art technologies,
he moved to Berlin to join the Berlin Institute for Medical Systems Biology at the Max
Delbrueck Center for Molecular Medicine in Germany. He obtained his PhD from Free University of Berlin in
2014. He has been a principal investigator at RIKEN from 2015 and jointly affiliated to RIKEN (Japan) and IFOM
(Italy) from 2018. He studies gene regulatory network by developing original technologies including Native
Elongating Transcript Cap Analysis of Gene Expression (NET-CAGE), which allows for identification of active
enhancers at high-nucleotide resolution with high sensitivity.
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Dr. Gerard Pals studied biochemistry in Utrecht and got a PhD in genetics at the VU
University in Amsterdam (1986). He was professor in molecular genetics at the Wayne
State University and consulting scientist at Henry Ford Hospital (Detroit, Michigan,
USA). In 1989 he established the laboratory for DNA and protein diagnostics in the
AZVU University Hospital (now Amsterdam University Medical Center) and he was
Laboratory Director until 2007. This laboratory is the National and International
Reference Center for the Diagnostics of Inherited Diseases. From 2007 until his retirement in 2016, Dr. Pals was
head of the Center for Connective Tissue Research. He is still actively involved in research and supervision
of MSc and PhD students. His current research is focused on developing medication for rare diseases. In
Indonesia, he is presently a consultant for genetic test development at Prodia, Jakarta. Dr. Pals published more
than 300 peer-reviewed papers in international journals, with an H-index 57.
Dr. Ratna Dua Puri obtained her M.D. Pediatrics degree from Armed Forces Medical
College, Pune and D.M. Medical Genetics from Sanjay Gandhi Institute of Medical
Sciences, Lucknow. Presently, she is a Senior Consultant and Vice Chairperson at the
Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi. She received the
Dharam Vira Award of Excellence for Senior Officer in 2010, and “Young Investigators
Award” at the International Congress of Inborn Errors of Metabolism held in Tokyo,
Japan in 2006. Dr. Puri represented India for deliberations at the Joint World Health Organization and MOD
Meeting on Management of Birth Defects and Hemoglobin Disorders in Geneva in May 2006. She has multiple
publications and chapters to her credit and is involved in several research projects. She is a member of the
Editorial Board of the Indian Journal of Pediatrics, past Secretary of the Delhi Society for Prenatal Diagnosis
& Therapy (DESPAT), Treasurer of Society of Fetal Medicine, Joint Treasurer of the Indian Society of Inborn
Errors of Metabolism, and has been the Secretary of the Genetics sub specialty chapter of the Indian Academy
of Pediatrics. She is a member of the Task Force on Birth Defect Registry in India and Lysosomal Storage
Disorders task force.
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13th Asia Pacific Conference on Human Genetics
Dr. Benjamin B. Roa is the Senior Vice President for Technology Development and
Senior Laboratory Director at Myriad Genetic Laboratories in Salt Lake City, Utah.
His professional interests include the development and delivery of molecular genetic
tests for clinical diagnostic, prognostic, and therapy selection applications with a
focus on oncology. Prior to joining Myriad Genetics he was an Assistant Professor in
the Department of Molecular and Human Genetics and the Lab Director of the DNA
Diagnostic Laboratory at Baylor College of Medicine in Houston, Texas. He obtained his BS Biology from the
University of the Philippines, his PhD in Molecular Biology and Biochemistry from Northwestern University,
and completed postdoctoral training at Baylor College of Medicine. He is board certified in Clinical Molecular
Genetics by the American Board of Medical Genetics and Genomics, and is a Fellow of the American College
of Medical Genetics. He has authored over 70 scientific publications.
Dr. Mark Seielstad was educated at Stanford University, receiving Bachelor’s degrees
in Biological Sciences (Hons.) and Classical Studies in 1992; and a PhD in Biology from
Harvard University in 1998. Previously, Prof Seielstad served on the faculty of Harvard
University’s School of Public Health. Also, from 2002 – 2008, he led the Human
Genetics group at the Genome Institute of Singapore and served on the faculty of the
National University of Singapore. He is Professor of Laboratory Medicine, Epidemiology
and Biostatistics, and of Global Health Sciences, Institute for Human Genetics, University of California San
Francisco. Professor Seielstad’s research focuses on the identification of genetic variation contributing to
complex human diseases, such as Type 2 Diabetes and autoimmunity.
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Dr. Herawati Sudoyo is the Deputy Director for Fundamental Research of the Eijkman
Institute for Molecular Biology in Jakarta, Indonesia. She is also the Chairperson for
Medical Commission of the Indonesian Academy of Sciences. She received a medical
degree from University of Indonesia and obtained her PhD in Biochemistry/Molecular
Biology from Monash University, Melbourne, Australia. She is Principal Investigator of
Human Genome Diversity and Disease. Her work on the Indonesian Genome Diversity
Project (IGDP) and its association with disease susceptibility contributed to our knowledge on population
structure, distribution of mutations underlie inherited disorders, history of our origin and also admixture of
different of ancestors genetic backgrounds. Herawati is also the Head of Forensic DNA Laboratory for human
and wildlife identification. Herawati is one of the founders of Asia Pacific Society of Human Genetics, and
also the founding member of the Indonesian Biorisk Association. She is involved on the development of the
Indonesian Code of Conduct on Biosecurity for Indonesia. She earned numerous awards for her contribution in
science in Indonesia, including Australian Alumni Award for Scientific Research and Innovation, Habibie Award
for Medical Science and Technology, Toray Award, Third World Academy of Sciences (TWAS) Award, and
others related to her effort to promote women in science.
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Dr. Thanyachai Sura is currently the President of Medical Genetics and Genomics
Association in Thailand and works at the Medical Genetics and Molecular Medicine
Unit at the Department of Medicine of the Ramathibodi Hospital, Mahidol University
in Bangkok, Thailand. He became a diplomate of the Thai Board of Internal Medicine,
Faculty of Medicine at the same institution in 1987. He received further training in
molecular medicine at the John Radcliffe Hospital in Headington, Oxford University,
England and received a certificate in Medical Genetics and Molecular Medicine from the Oxford University
in 1990. He became a member of the Royal College of Physicians in London in 1991. Dr. Sura’s main research
interest is in molecular medicine and genetics and he has published over 70 articles in national and
international peer-reviewed medical journals, including the Human Genetics, Science, Nature, Journal of
Clinical Neuromuscular Disease, Journal of Human Genetics, PLoS One and Journal of the Medical Association
of Thailand. His published research papers cover a range of topics, among which include molecular studies on
the enzyme paraoxonase, descriptive studies on fragile X syndrome at the Ramathibodi Hospital, and several
papers on clinical genetic diseases such as Duchenne muscular Dystrophy as well as Familial cancers and
Multiple Endocrine Neoplasia.
Ms. Yue Ying graduated from the National University of Singapore and has been with
Illumina since August 2012 where she joined us from The Institute of Molecular and
Cell Biology in Singapore, A*STAR. During that time, she has accumulated a long list of
achievements in both pre- and post-sales support of bioinformatics within Asia Pacific
Japan. Ms. Yue Ying shows values of her work through outcome, with several key
successful customer enablement projects across various applications including cancer
research, genetic disease research, metagenomics, mitochondrial analysis and viral pathogen detection to name
a few. She is passionate about driving customer success through Illumina informatics solutions scaling from
small targeted assays to human Whole Genome Sequencing and has been piloting a number of initiatives to
upskill our customers in the region. Ms. Yue Ying also leads the interactions with the sales channel partners in
the region on all things bioinformatics.
Dr. Michael Tee is the current convener of the APLAR Special Interest Group in
Genetics. He is an Associate Professor of Physiology and Rheumatology at the
College of Medicine, University of the Philippines Manila where he also serves as
the Vice Chancellor for Planning and Development. He has a Master Degree in
Health Professions Education and a Master Degree in Business Administration from
the University of the Philippines. Dr. Tee and his research group has done genomic
researches in systemic lupus erythematosus, a nationwide project funded by the Department of Science and
Technology of the Republic of the Philippines. Their group is responsible for defining the normative value for
the determination of sarcopenia among Filipinos in 2016. His interest in ensuring access and equity in health
care delivery fuels his works on biosimilars and pharmacoeconomics. Currently, Dr. Tee is collaborating with
University of California Davis to develop an innovative strategy for early detection of diseases in humans,
animals and plant – a One Health Concept. Dr. Tee was among the 10 Abbvie Best Abstract awardees in the
18th Asia Pacific League of Associations for Rheumatology (APLAR) Congress in Shanghai.
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Dr. Hans van Bokhoven heads the Molecular Neurogenetics Unit, Human Genetics
Department, Radboudumc Nijmegen. His research aims to reveal the genetic
underpinnings and biological mechanisms underlying (neuro)developmental disorders
by using a multi-level strategy that combines clinical genetics, functional genomics
and molecular & cellular neurobiological approaches, such as the generation and
characterization of in vitro (keratinocytes, hiPSC-derived human neural cells) and in
vivo model organisms. He received his MSc in Agricultural Sciences (Engineer) and PhD in Molecular Biology
from Wageningen University, Netherlands. He is a Principal Investigator of Radboud Institute for Molecular Life
Sciences, Donders Centre for Neuroscience, and Radboudumc, Professor of Molecular Neurogenetics, and a
Member of Academia Europae. He has published 290 articles with >15,000 total citations and an H-index of 70.
He is the coordinator of large EU collaborative projects such as the Euro-MRX, GENCODYS, and IMPACT.
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Dr. Veronica Wiley is a Clinical Associate Professor and Director of the NSW Newborn
Screening Programme, NSW Australia. She is a Clinical Scientist with over 40 years of
experience in paediatric biochemistry especially screening, detection, diagnosis and
monitoring of inborn errors using various techniques that include immunoassay, mass
spectrometry, enzyme assays and various DNA variant analyses. She has particular
interests in data storage and tandem mass spectrometry. A/Prof Wiley is President of
the Australasian Society for Inborn Errors of Metabolism and immediate past President of the International
Society for Neonatal Screening (ISNS) and currently the Chair of the Program Development Committee. She
is an active member of several other professional societies including the AACB, HGSA and the RCPA; she has
been awarded fellowship of the HGSA and RCPA; is a member of committees for HGSA, ASIEM and ISNS. She
is requested to provide presentations on a large number of topics associated with newborn screening.
Shuhua Xu (China)
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Eligibility
The awarding ceremony will be during the Closing Ceremonies on November 9, 2019.
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1 | SAMPLE COLLECTION
7 | RESULT ANALYSIS
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13th Asia Pacific Conference on Human Genetics
www.genqa.org
info@genqa.org
Technical:
Newborn Preimplantation Haematological
Next Generation
Screening Genetic Testing Neoplasms
Sequencing
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OF THE
University of the Philippines
VER ITY
PHI PIN
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Special thanks to
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