Session Details

[OE2]Oral English Session 2 Rare Diseases, Pediatric Genetics

Thu. Oct 10, 2024 12:55 PM - 1:45 PM JST
Thu. Oct 10, 2024 3:55 AM - 4:45 AM UTC
Room 5(Highness Hall, 2F)
Chairs:Toshiki Takenouchi(Department of Pediatric Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences), Hisato Suzuki(Institute of Medicine, University of Tsukuba)

[OE2-1]Pathogenic variants in ADTKD-MUC1 can be detected using short read sequencing data

China Nagano1, Naoya Morisada2, Yuta Inoki1, Yu Tanaka1, Chika Ueda1, Hideaki Kitakado1, Nana Sakakibara1, Tomoko Horinouchi1, Tomohiko Yamamura1, Shingo Ishimori1, Kandai Nozu1 (1.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, 2.Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan)

[OE2-2]Clinical features of autosomal dominant tubulointerstitial kidney disease in Japan

Naoya Morisada1,2, Yu Tanaka2, Eri Okada3, China Nagano2, Tomoko Horinouchi2, Kandai Nozu2 (1.Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, 2.Department of Pediatrics, Kobe University Graduate School of Medicine, 3.Department of Nephrology, Faculty of Medicine, University of Tsukuba)

[OE2-3]Nine-years accomplishment of Initiative on Rare and Undiagnosed Diseases (IRUD)

Yuji Takahashi1,2, Hidetoshi Date3, Yuka Hama2, Hideki Oi4, Shinji Kosugi5, Naomichi Matsumoto6, Kenjiro Kosaki7, Youichi Matsubara8, Hidehiro Mizusawa9 (1.Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 2.Department of Genomic Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Japan, 3.Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan, 4.Department of Clinical Data Science, Clinical Research and Education Promotion Division, National Center of Neurology and Psychiatry, Tokyo, Japan, 5.Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan, 6.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 7.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 8.National Center for Child Health and Development, Tokyo, Japan, 9.National Center of Neurology and Psychiatry, Tokyo, Japan)

[OE2-4]Whole-genome sequencing analysis of IgG4-related disease in the Japanese population

Yuxun Zhang, Takeshi Iwasaki, Takahisa Kawaguchi, Izumi Yamaguchi, Meiko Takahashi, Shuji Kawaguchi, Fumihiko Matsuda, Japanese Research Group of IgG4-Related Disease (Centre for Genomic Medicine, Kyoto University)

[OE2-5]Long-molecule genomics analyses elucidating the hidden structural variations associated with MECP2 duplication syndrome

Qiaowei Liang1, Yuri Uchiyama1,2, Ichiro Kuki3, Naomi Tsuchida1,2, Eriko Koshimizu1, Atsushi Fujita1, Satoko Miyatake1,4, Takeshi Mizuguchi1, Naomichi Matsumoto1 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 2.Department of Rare Disease Genomics, Yokohama City University Hospital, 3.Department of Pediatric Neurology, Osaka City General Hospital, 4.Department of Clinical Genetics, Yokohama City University Hospital)