プログラム

Presidential Lecture

Kenjiro Kosaki

Presidential Lecture

9:20-9:50, Thursday, October 12 (Room A/Cosmos, 3F, Toshi Center Hotel)

Prof. Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine, Japan

Let us treasure and share our exceptions: Story on PDGFRB activating variants

Short Biography

Short Biography

Prof. Kosaki received clinical and research training in pediatrics at Keio University in Tokyo and medical genetics at the University of California, San Diego and Baylor College of Medicine in USA and received board certification in Clinical Genetics from the American Board of Medical Genetics. He is the Founding Director of the Center of Medical Genetics at Keio University. His publications have been referred to in more than 60 of the OMIM database entries spanning diverse areas of medical genetics. Examples include the new syndromic entities identified by his laboratory, namely, the Kosaki Overgrowth Syndrome caused by PDGFRB mutation (OMIM# 616592) and the Thrombocytopenia-Intellectual Disability Syndrome caused by mutation in CDC42 (OMIM# 616737 also known as Takenouchi-Kosaki syndrome). In 2019 he was elected as the President of the Japan Society of Human Genetics and is serving multiple national and international genome research projects in the field of rare and undiagnosed diseases.

Plenary Lectures

Dr. Robert L. Nussbaum

Plenary Lecture 1

13:00-13:50, Thursday, October 12 (Room A/Cosmos, 3F, Toshi Center Hotel)

Dr. Robert L. Nussbaum

Chief Medical Office, Invitae, USA

The expanding role of genetics in the care of patients with rare disorders

Short Biography

Short Biography

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.

Prof. Dr. Svante Pääbo

Plenary Lecture 2

13:10-14:00, Friday, October 13 (Room A/Cosmos, 3F, Toshi Center Hotel)

Prof. Dr. Svante Pääbo

Director, Max-Planck Institute for Evolutionary Anthropology in Leipzig, Germany
Adjunct Professor, the Okinawa Institute of Science and Technology, Japan

About Neandertals, Denisovans, and modern humans

Short Biography

*Nobel Prize Laureate

Short Biography

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.

Prof. Yusuke Nakamura

Plenary Lecture 3

9:40-10:20, Saturday, October 14 (Room A/Cosmos, 3F, Toshi Center Hotel)

Prof. Yusuke Nakamura

President, National Institutes of Biomedical Innovation, Health and Nutrition, Japan

40 years of human genetics, genomics, genetic variations and precision medicine

Short Biography

Short Biography

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.

Prof.Kiran Musunuru

Plenary Lecture 4

10:20-11:00, Saturday, October 14 (Room A/Cosmos, 3F, Toshi Center Hotel)

Prof. Kiran Musunuru

ASHG Board of Directors, Past Program Committee Chair

Therapeutic gene editing for cardiovascular and metabolic diseases:
From the laboratory bench to the clinic

Short Biography

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.

Prof.

Plenary Lecture 5

11:00-11:40, Saturday, October 14 (Room A/Cosmos, 3F, Toshi Center Hotel)

Prof. Borut Peterlin

Vice President, The European Society of Human Genetics (ESHG)

Innovative approach for implementation of Genomic Medicine in Health Systems

Short Biography

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.

Translating human genetics and genomics into the future:
Foresights, hurdles and global co-operation

Day 2: Friday, October 13, 2023

2:00pm-4:00pm

Room A/Cosmos, 3F, Toshi Center Hotel

Overview:

Following Professor Pääbo's presentation on human evolution and population genetics, the Global Forum will host a discussion on the future of human genomics. As we learn from ancient DNA, embrace current technological advances, and apply knowledge of human genetics to translational medicine, we also want to take a step forward to anticipate and prepare for a brave new future where genomic technologies and information are accessible to all people in all countries. What would we do then? What would we expect?

Notes:
ASHG:American Society of Human Genetics
ESHG:The European Society of Human Genetics
APSHG:The Asia Pacific Society of Huma n Genetics
EAUHGS:East Asia Union of Human Genetics Society

Wellcome Connecting Science Workshop : Genome Sequence Analysis for Clinical Interpretation

1. Entry for the workshop is free of charge.

2. Registration for HGA2023 is required mandatory to entry.

NOTE: Your entry will be cancelled without notice if your registration is not completed in advance.

Day 1: Thursday, October 12, 2023Timetable

8:30am-12:00pm

2:00pm-5:45pm

Room H, Meeting Room 3&4, 3F, Zenkoku Toshi Kaikan

Day 2: Friday, October 13, 2023Timetable

8:30am-12:00pm

2:00pm-5:30pm

Room H, Meeting Room 3&4, 3F, Zenkoku Toshi Kaikan

Moderator:

Christian Gilissen (Radbound University Medical Center, the Netherlands)

Overview:

This 2 day workshop will be held during the Human Genetics Asia 2023 Conference (HGA2023) on 12 and 13 October 2023 from 8am – 6pm. Participants will be introduced to sequence analysis workflows, key electronic resources and open access tools for variant annotation, interpretation and curation. Case studies will be incorporated to demonstrate key steps in research and potential utility in clinical diagnostics. You will be required to bring your own laptop.

Topics

This workshop focuses on the scientific principles and tools of genomic analysis and interpretation that underpin clinical research and practice and covers the following topics.

  • Overview of sequencing technologies for clinical applications
  • Sequence analysis workflows
  • RNAseq analysis
  • Tools for variant interpretation
  • Introduction to DECIPHER
  • SNV and CNV interpretations
  • Variant curation and ACMG guidelines
  • Challenges of clinical genomics and ethical

Symposia

Day 1: Thursday, October 12, 2023

10:10am-11:40am, at Toshi Center Hotel

Room A/Cosmos, 3F

SY1: Therapeutics (DNA, mRNA, genome editing, others)

Purpose of the Symposium:

Human genetics is in the midst of a rapid and profound transformation from diagnostics to therapeutics. Let us dive in!

Room B/Orion, 5F

SY2: Cancer Genomics, germline

Purpose of the Symposium:

The role of germline variants in cancer susceptibility genes is increasingly recognized. This is true for both adults and children.

Room C/606, 6F

SY3: Newborn Screening

Purpose of the Symposium:

Newborn screening is a prime example of the contribution of genetics to preventive medicine. Speakers will demonstrate the expansion of newborn screening into inborn errors of metabolism and beyond.

Room D/701, 7F

SY4: COVID-19 Susceptibility

Purpose of the Symposium:

Accurate diagnosis is the starting point for appropriate management of comorbidities and potential treatments. Global efforts to help patients without a diagnosis will be presented. Let us unite.

4:00pm-5:30pm, at Toshi Center Hotel

Room A/Cosmos, 3F

SY5: Pediatric Genetics / Congenital Malformation

Purpose of the Symposium:

Pediatrics is one of the homelands of medical genetics. Consequently, its clinical application is the most advanced. New approaches to the study of birth defects are also presented.

Room B/Orion, 5F

SY6: Cancer Genomics, somatic

Purpose of the Symposium:

Cancer genetics is by far the fastest growing field. New concepts are emerging, including the interplay between germline and somatic variants, intratumor heterogeneity, and tissue-specific oncogenesis.

Room C/606, 6F

SY7: Aging and Diseases

Purpose of the Symposium:

Immortality has long been a theme in Asian cultures. Let us see how much of the variation in human lifespan is determined by our genome.

Room D/701, 7F

SY8: Hemoglobinpathies

Purpose of the Symposium:

Haemoglobinopathies remain the main theme of human genetics in Asia. Recent advances in thalassaemia research will be presented by international speakers.

Day 2: Friday, October 13, 2023

10:10am-11:40am, at Toshi Center Hotel

Room A/Cosmos, 3F

SY9: Omics/ Sequencing Technologies

Purpose of the Symposium:

Historically, human genetics has been heavily dependent on technological advances. This session will discuss new technologies beyond short-read sequencing.

Room B/Orion, 5F

SY10: Prenatal Genetics※日本産婦人科学会 領域講習

Purpose of the Symposium:

Prenatal diagnosis is one of the fastest growing areas in human genetics. Speakers will present developments in various modalities including ultrasound, cell-free DNA analysis and exome analysis.

Room C/606, 6F

SY11: Non-coding Regulatory Elements / ncRNA / miRNA / other RNAs

Purpose of the Symposium:

The regulation of gene expression has been a difficult area of human genetics to tackle. This session will present new successful approaches.

Room D/701, 7F

SY12: Genomic Risk Assessment: Towards Preventive Medicine

Purpose of the Symposium:

Many common diseases are understood to be polygenic. Steady developments in GWAS methodologies and recent advances in polygenic risk scoring have opened the door to a real contribution of genetics to preventive medicine. The speakers will present successful examples.

4:40pm-6:10pm, at Toshi Center Hotel

Room A/Cosmos, 3F

SY13: Databases / Data sharing / Biobank

*SY13 will end at 6:20pm,

Purpose of the Symposium:

As researchers in human genetics, the science of diversity, we rely heavily on variant data, which is the foundation of our diversity. How can we advance our study while protecting privacy? Let's not reinvent the wheel in every country. Let's listen to the wisdom of our predecessors and set global standards. This session is sponsored in part by GA4GH.

Room B/Orion, 5F

SY14: Comprehensive Management of Differences of Sex Development (DSD);
Lessons from Genetics※日本産婦人科学会 領域講習

Purpose of the Symposium:

Differences of sex development is a unique but critically important area of clinical genetics. The topic will be discussed from different perspectives.

Room C/606, 6F

SY15: Bioinformatics

Purpose of the Symposium:

Not a day of geneticists goes by without a good software. Let us leanr new software in this session.

Room D/701, 7F

SY16: Genetics of Complex Diseases

Purpose of the Symposium:

Genetic analysis has become an essential tool in the field of complex diseases, including autoimmune disorders, psychiatric disorders, cardiovascular disorders and beyond.

Day 3: Saturday, October 14, 2023

8:00am-9:30am, at Toshi Center Hotel

Room A/Cosmos, 3F

SY17: Rare and Undiagnosed Diseases

Purpose of the Symposium:

Precised diagnosis is the beginning of appropriate management of comorbidity and trials of potential treatment. Global effort in helping patients without diagnosis willl be presented. Let us unite.

Room B/Orion, 5F

SY18: Ethic, Legel and Social Impleications

Purpose of the Symposium:

As scientists and clinicians at the forefront of technological advances, no one is free from ethical considerations. Is there a single global ethical standard or not?

Room C/606, 6F

SY19: Neurologic Disorders-Diagnostic Perspectives

Purpose of the Symposium:

The field of neogenetics is expanding rapidly. This session will look at diagnostic advances including mosaicism,
repeat expansion and oligonic inheritance.

Room D/701, 7F

SY20: Genetic Counseling 1

1:40pm-3:10pm, at Toshi Center Hotel

Room A/Cosmos, 3F

SY21: Genetic Counseling 2

Room B/Orion, 5F

SY22: Inherited Metabolic Diseases

Purpose of the Symposium:

Inborn errors of metabolism have been the home of human genetics since the era of Garrod. Recent developments in different subfields are illustrated: mitochondrial disorders, adult disorders and therapeutic aspects.

Room C/606, 6F

SY23: Neurologic Diseases-Therapeutic Perspectives

Purpose of the Symposium:

Neogenetics is also expanding rapidly in the therapeutic field. Gene therapy and antisense RNA will be under discussion.

Sponsored Symposium by Myriad Genetics G.K.

Day 1: Thursday, October 12, 2023

1:50pm-3:20pm

Room A/Cosmos, 3F

SS:The large-scale genetic analysis and data sharing in East Asia for hereditary tumors

Chairperson

Mercy Laurino

Fred Hutchinson Cancer Center, USA, University of the Philippines Manila, Philippines

Yoshio Miki

University of Tsukuba Research and Development Center for Precision Medicine, Japan

Speaker

Yukihide Momozawa

RIKEN, Japan

Mercy Laurino

Fred Hutchinson Cancer Center, USA, University of the Philippines Manila, Philippines

Ava Kwong

School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong-Kong, Hong Kong

教育プログラム ※日本語セッション

Day 2: Friday, October 13, 2023

2:00pm-5:30pm

立山(砂防会館 3F)

WebCast ClinicalNotesチャットカフェ

モデレーター:

吉橋 博史( 東京都立小児総合医療センター)

Overview:

日本人類遺伝学会ホームページに掲載されている教育コンテンツであるWebCast で公開されているClinicalNotes の疾患をテーマに、原案者の先生とナビゲーター、参加されるすべてのみなさんが、直接あるいはデバイスを通じてチャットを楽しむカフェを開催します。
お菓子と飲み物、おしゃべりを楽しみながら、スマホを活用した双方向型・参加型セッションとなっています。入退場自由ですので、お気軽にお立ち寄りください。

Day 3: Saturday, October 14, 2023

① 10:50am-11:40am

② 2:30pm-3:20pm

③ 4:10pm-5:00pm

立山(砂防会館 3F)

遺伝医学はじめの一歩-update

モデレーター:

渡邉 淳( 金沢大学)

Overview:

「遺伝医学を基礎から」を学ぶ場を企画しました。この最近の進歩を中心に、①遺伝性疾患、②遺伝子関連検査・染色体検査、③遺伝医療・ゲノム医療の3 部作にしています。皆さんが遺伝医学を整理する機会になると幸いです。

臨床遺伝専門医更新講習

※更新単位取得対象、但し、1つの大会中、最大2単位まで取得可能

Day 1: Thursday, October 12, 2023

Room 1/Yodo-Shinano, 2F, Sabo Kaikan

10:00am-10:50am

教育プログラム1:生殖・周産期領域(1単位)

10:50am-11:40am

教育プログラム2:腫瘍領域(1単位)

2:00pm-2:50pm

教育プログラム3:成人領域(1単位)

2:50pm-3:40pm

教育プログラム4:小児領域(1単位)

Day 2: Friday, October 13, 2023

Room 1/Yodo-Shinano, 2F, Sabo Kaikan

9:30am-10:30am

教育プログラム6-1:臨床遺伝専門医制度委員会単独企画 第1部

10:40am-11:40am

教育プログラム6-2:臨床遺伝専門医制度委員会単独企画 第2部
(合計120分/2単位)

認定遺伝カウンセラー単位講習

Day 1: Thursday, October 12, 2023

Room 1/Yodo-Shinano, 2F, Sabo Kaikan

3:50pm-4:40pm

教育プログラム5-1:認定遺伝カウンセラー単位講習(1単位)

Day 2: Friday, October 13, 2023

Room 1/Yodo-Shinano, 2F, Sabo Kaikan

4:10pm-5:00pm

教育プログラム5-2:認定遺伝カウンセラー単位講習(1単位)

Luncheon Seminars

Day 1: Thursday, October 12, 2023

12:00pm-12:50pm

Room A

LS1: Genomics for Lifelong Health Benefits: Applications in Screening, Diagnosis and Prediction

Sebastian Lunke

Division of Genetics and Genomics at VCGS and the Murdoch Children’s Research Institute in Melbourne, Australia

Twist Bioscience, JAPAN

Day 1: Thursday, October 12, 2023

12:00pm-12:50pm

Room B

LS2: ロングリードRNAシークエンスIso-Seqを用いたヒトの脳の部位間でのトランスクリプトームの比較

嶋多 美穂子

国立国際医療研究センター

トミーデジタルバイオロジー株式会社

Day 1: Thursday, October 12, 2023

12:00pm-12:50pm

Room C

LS3: 周産期疾患とDOHaD研究のいま

菅原 準一

スズキ記念病院

サーモフィッシャーサイエンティフィック

Day 1: Thursday, October 12, 2023

12:00pm-12:50pm

Room D

LS4: ゲノム創薬に向けた 日本人疾患バイオバンク プロテオゲノミクスデータ整備の取り組み

松田 浩一

東京大学大学院 新領域創成科学研究科

オーリンクプロテオミクス株式会社

Day 1: Thursday, October 12, 2023

12:00pm-12:50pm

Room E

LS5: A novel system for human whole-genome structural variation analysis

John Thompson, PhD

Principal Application Scientist, Nabsys, USA

Tateo Nagai

Genomic Bioinformatics, Business Creation Dept. Hitachi High-Tech, JAPAN

Justin Cowling

VP Sales and Marketing, OmniTier, USA

株式会社日立ハイテク

Day 1: Thursday, October 12, 2023

12:00pm-12:50pm

Room G

LS6: 軟骨無形成症の疾患概要と治療薬ボソリチドへの期待

澤井 英明

兵庫医科大学病院 遺伝子医療部・産科婦人科

骨系統疾患の診断と管理 -軟骨無形成症のアップデート-

BioMarin Pharmaceutical Japan 株式会社

Day 2: Friday, October 13, 2023

12:00pm-12:50pm

Room A

LS7-1: Illumina Complete Long Readを使った構造多型参照パネルの検討

岡村 容伸

東北大学 未来型医療創成センター

LS7-2:東北メディカル・メガバンク計画におけるゲノム・オミックス参照パネルの構築

木下 賢吾

東北大学東北メディカル・メガバンク機構

イルミナ株式会社

Day 2: Friday, October 13, 2023

12:00pm-12:50pm

Room B

LS8: PrismGuide™ IRDパネル システムの臨床実装への第一歩

堀田 喜裕

浜松医科大学医学部附属病院 眼科

網膜ジストロフィーの遺伝学的検査

前田 亜希子

神戸市立神戸アイセンター病院研究センター

PrismGuide™ IRDパネル システムの臨床性能

シスメックス株式会社

Day 2: Friday, October 13, 2023

12:00pm-12:50pm

Room C

LS9: ファブリー病のRed Flag症状/所見:治療可能な心ファブリー、女性へテロ患者を見逃さないために

森崎 裕子

榊原記念病院 総合診療部 臨床遺伝科

アミカス・セラピューティクス株式会社

Day 2: Friday, October 13, 2023

12:00pm-12:50pm

Room D

LS10: Critical elements for protecting children from severe genetic disorders at the Genome Medicine era in China.

Yiping Shen

Division of Genetics and Genomics, Harvard Medical School, Boston, USA

MGI Tech Japan 株式会社

Day 2: Friday, October 13, 2023

12:00pm-12:50pm

Room E

LS11: LSLimiting Gene Testing in Cancer Patients Deprives Them of Clinically Useful Information: The Case for Universal Testing

Robert L. Nussbaum

Invitae Corporation, USA

フィンガルリンク株式会社

Day 2: Friday, October 13, 2023

12:00pm-12:50pm

Room G

LS12: SMA(脊髄性筋萎縮症)に関連するテーマ

坊 亮輔

神戸大学大学院医学研究科 内科系講座小児科学分野

中外製薬株式会社

Day 3: Saturday, October 14, 2023

12:00pm-12:50pm

Room A

LS13: ファブリー病における新生児スクリーニングの意義と早期診断の重要性

村山 圭

順天堂大学大学院医学研究科 難治性疾患・治療学/小児科学

サノフィ株式会社

Day 3: Saturday, October 14, 2023

12:00pm-12:50pm

Room B

LS14: 保険収載下のマイクロアレイ染色体検査:実用性と課題

清水 健司

静岡県立こども病院 遺伝染色体科

アジレント・テクノロジー株式会社

Day 3: Saturday, October 14, 2023

12:00pm-12:50pm

Room C

LS15: 遺伝性神経疾患:疾患修飾療法の進歩と遺伝カウンセリング

中村 勝哉

信州大学医学部附属病院 遺伝子医療研究センター 信州大学医学部 脳神経内科、リウマチ・膠原病内科

Alnylam Japan株式会社

Day 3: Saturday, October 14, 2023

12:00pm-12:50pm

Room D

LS16: Oxford Nanopore: a high-precision approach for exploring human disease

Vorasuk Shotelersuk

Center of Excellence for Medical Genomics, Faculty of Medicine, Chulalongkorn University
Thai Society of Human Genetics (TSHG)

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy

Mari Miyamoto

Oxford Nanopore Technologies, Japan

The high precision of the latest nanopore sequencers and the future of nanopore sequencers.

株式会社オックスフォード・ナノポアテクノロジーズ

Day 3: Saturday, October 14, 2023

12:00pm-12:50pm

Room E

LS17: シーケンスに依らないゲノム異常探索ツール:Optical Genome Mapping

松本 直通

横浜市立大学大学院医学研究科遺伝学教室

アズワン株式会社

Day 3: Saturday, October 14, 2023

12:00pm-12:50pm

Room F

LS18: How to get your clinical research published

Chairperson
Toshiki Takenouchi, Department of Pediatrics, Keio University School of Medicine, Japan

Overview:
As a scientist, it is important to publish in a scientific article the symptoms and results of genomic analysis of unique patients you have studied. There are certain rules for writing manuscripts, and any major deviation from these rules will make it difficult for the manuscript to be accepted. In this luncheon seminar, four Asian Associate Editors of the American Journal of Medical Genetics will share their secrets for writing manuscripts that are likely to be accepted for publication and hold an open discussion. We hope that those who find it difficult to get their paper accepted will attend.
Following topics will be covered:
"Clinical case value and presentation" by Professor Yiping Shen
"How to write succinct introduction" and "advices for responding to reviewers" by Professor Tiong Yang Tan
"How to produce publication quality figures" by Professor Katta M. Girisha
"Using the Elements of Morphology in your case reports" by Professor Brian H.Y. Chung

Yiping Shen

Division of Genetics and Genomics, Boston Children's Hospital, USA

Clinical case value and presentation

Tiong Yang Tan

Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, University of Melbourne Department of Paediatrics, Royal Children’s Hospital, Australia

How to write succinct introduction Guidelines for responding to reviewers

Katta M. Girisha

Department of Medical Genetics, Kasturba Medical College, India

How to produce publication quality figures

Brian H.Y. Chung

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China

Using the Elements of Morphology in your case reports

Notes:
- Lunch box will be served.
- A lunch ticket (free) is needed to attend.
- Please pick one up in advance at the Luncheon Seminar Ticket Desk.

How to Get Your Clinical Research Published <Luncheon Seminar 18>

Day 3: Saturday, October 14, 2023

12:00pm-12:50pm

Room G

LS19: 希少疾患における多診療科連携の重要性-遺伝専門家が求められていること

古庄 知己

信州大学医学部遺伝医学教室 信州大学医学部附属病院遺伝子医療研究センター 信州大学基盤研究支援センター バイオバンク信州

低ホスファターゼ症に対するMultidisciplinary Approach:
酵素補充療法を導入した小児期発症型成人症例の経験から

西田 佳弘

名古屋大学医学部附属病院リハビリテーション科

NF1診療における多科・多職種連携の重要性;構築と維持における課題と今後の展望

アレクシオンファーマ合同会社 メディカルアフェアーズ本部

Sweet Seminars

Day 1: Thursday, October 12, 2023

4:00pm-4:50pm

Room E

SW1: 希少疾患の遺伝子治療 最近の話題

大石 公彦

東京慈恵会医科大学小児科学講座

これからの新生児スクリーニングにおける遺伝子治療の関わり方

藤波 芳

独立行政法人国立病院機構東京医療センター/臨床研究センター視覚研究部 視覚生理学研究室

遺伝性網膜ジストロフィー(IRD)に対する最新の遺伝学的検査及び遺伝子治療

ノバルティスファーマ株式会社

Day 2: Friday, October 13, 2023

4:40pm-5:30pm

Room E

SW2

上村 泰央

株式会社ジーンベイ

ナノポアシークエンスデータ解析の実際

株式会社ジーンベイ

Medical Bioinformatics Workshop in HGA2023 ※日本語セッション

*Japanese Language is used in this session.

1)参加受付は終了しました。ご応募ありがとうございました。

エントリーはこちらから

2)参加資格:本会への参加登録者

Medical Bioinformatics Workshop in HGA2023-1

Day 2: Friday, October 13, 2023

10:10am-11:40am

707, 7F, Toshi Center Hotel

Medical Bioinformatics Workshop in HGA2023-2

Day 3: Saturday, October 14, 2023

8:00am-9:30am

707, 7F, Toshi Center Hotel

Medical Bioinformatics Workshop in HGA2023-3

Day 3: Saturday, October 14, 2023

1:40pm-3:10pm

707, 7F, Toshi Center Hotel

Other Programs

Special Interest Group (SIG) Sessions

Anybody with interest are welcomed.
We provide “breakout rooms” for groups with special interest in particular topics (e.g., prenatal diagnosis).
Let us get to know each other and develop a collaborative network Asia in your field of expertise.
Speakers and chairpersons of the symposium, oral, and poster sessions have been invited to participate.
Of course, other HGA2023 participants are also welcome.
The format of each session is up to the organizers. Pre-registration is not required to attend.

Call for participation

Pre-registration here!

While pre-registration isn't mandatory, we encourage you to detail your plans through this form to allow session organizers to prepare the necessary facilities.

SIG Sessions

SIG: “Let’s Share Ideas and Opinions on Genetic Counseling!”

SIG: “Bridging Medical Informatics in Asia”

SIG: “Genomic and Epigenomic Analysis for Prenatal and Perinatal Disorders”

SIG: “Genomic Medicine for Sick Newborn Infants”

GA4GH Satellite Session

Networking to solve Undiagnosed diseases