Session Details
[OE4]Oral English Session 4 Neurogenetics / Sensory Genetics
Thu. Dec 15, 2022 4:40 PM - 5:30 PM JST
Thu. Dec 15, 2022 7:40 AM - 8:30 AM UTC
Thu. Dec 15, 2022 7:40 AM - 8:30 AM UTC
Room 7
Chairs:Sachiko Nishina (Division of Ophthalmology, National Center for Child Health and Development), Ken Inoue (Dept. Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP)
[OE4-1]The genetic landscape of porokeratosis in Japan
○Akiharu Kubo1,2, Sonoko Saito1, Satomi Aoki1, Kazuhiko Nakabayashi3, Hisato Suzuki4, Takashi Sasaki5, Kenichiro Hata3, Kenjiro Kosaki4, Masayuki Amagai1 (1.Department of Dermatology, Keio University School of Medicine, Tokyo, Japan, 2.Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, 3.Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 5.Center for Supercentenarian Medical Research, Keio University School of Medicine, Tokyo, Japan)
[OE4-2]Molecular Diagnostic Landscape of Children with Onset of Seizure in the First Three Years of Life
○Reiko Nishiguchi1, Swaroop Aradhya2, Lauren DeRienzo3, Celene Grayson3, Britt Johnson2, Dee Mcknight2, Ana Morales2, Robin Sherrington3, Andrew Wilcock3, Heather Mclaughlin2 (1.Invitae Japan KK, Global Medical Affairs, Tokyo, Japan, 2.Invitae Corporation, San Francisco, USA, 3.Xenon Pharmaceuticals, Inc., Burnaby, Canada)
[OE4-3]Different clinical effect of two RP1L1 hotspots of East Asian Patients with Occult Macular Dystrophy; EAOMD Report No.4
○Yu Fujinami-Yokokawa1,2,3, Seong Joon Ahn4, Kwangsic Joo5, Kazushige Tsunoda6, Mineo Kondo7, Hui Li8, Kyu Hyung Park5, Izumi Naka9, Jun Ohashi7, Hisateru Tachimori10, Hiroaki Miyata2, Se Joon Woo5, Ruifang Sui8, Kaoru Fujinami1,3 (1.Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan, 2.Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan, 3.UCL Institute of Ophthalmology, London, UK, 4.Department of Ophthalmology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul, Republic of Korea, 5.Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea, 6.Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan, 7.Department of Ophthalmology, Mie University Graduate School of Medicine, Mie, Japan, 8.Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China, 9.Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Japan, 10.Endowed Course for Health System Innovation, Keio University School of Medicine, Tokyo, Japan)
[OE4-4]Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy: perimetric features
○Kaoru Fujinami1,2,3, Yu Fujinami-Yokokawa1,2,4, East Asia Inherited Retinal Disease Society Group1 (1.Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan, 2.UCL Institute of Ophthalmology, London, UK, 3.Moorfields Eye Hospital, London, UK, 4.Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan)
[OE4-5]Recommended First Tier Genetic Testing for Patients with Neurodevelopmental Disorders has Diagnostic Utility
○Aradhya Swaroop, McKnight Dianalee, Morales Ana, Finley Jenna, Hatchell Kathryn (Invitae Inc., San Francisco, USA)