Member Introduction

Tomonari Awaya

member_awaya
Present Position Assistant professor
Degree M.D., Ph.D.
Education April 1997 – March 2003: Kyoto University, School of Medicine, Kyoto, Japan
April 2007 – April 2010: Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
Professional
Experience		 April 2003 – March 2005: Resident (Pediatrics), Nagoya City University Hospital, Aichi, Japan
April 2005 – March 2007: Staff physician (Pediatrics), Kyoto University Hospital, Kyoto, Japan
May 2007 – March 2009: Research Assistant, Japan Children’s Study Group, Japan Science and Technology Agency, Japan
Feb 2009 – April 2010: Research Assistant, Institute for Integrated Cell-Material Sciences (iCeMS), Kyoto University, Kyoto, Japan
May 2010 – June 2016: Assistant Professor (Pediatrics), Kyoto University Graduate School of Medicine, Kyoto, Japan
July 2016 – present: Assistant Professor (Anatomy and Developmental Biology/Drug Discovery Department for Skin and Brain Disorders), Kyoto University Graduate School of Medicine, Kyoto, Japan
Qualification May 2003: Full Medical License (Ministry of Health, Labour, and Welfare, Japan)
Oct 2010: Board-certified Pediatrician (The Japan Pediatric Society)
Oct 2012: Board-certified Child Neurologist (The Japanese Society of Child Neurology)
Nov 2012: Certified Expert Clinical Geneticist (The Japan Society of Human Genetics)
Research
Interests
  1. Disease modeling of genetic disorders and congenital disorders using iPSC
  2. Child physical development and its relation to cognition and behavior
  3. Pathophysiolosy underlying acquired cognitive dysfunction
Clinical
Interests
  1. Diagnosis and management of genetic disorders and congenital disorders
  2. Clinical management of neuromuscular disorders
  3. Developmental disorders and pshychological problems
Memberships
  • Member of International Society for Stem Cell Research
  • Member of Society for Neuroscience
  • Member of World Muscle Society
  • Member of The American Society of Human Genetics
  • Member of International Child Neurology Association
  • Member of Asia-Oceanian Child Neurology Association
  • Member of Infantile Seizure Society
  • Member of The Japan Pediatric Society
  • Council member of The Japanese Society of Child Neurology
  • Board member of The Annual Zao Conference on Pediatric Neurology
  • Member of Japanese Society for Inherited Metabolic Diseases
  • Board member of Japanese Society of Pompe Disease
  • Member of The Japan Society of Human Genetics
  • Member of The Japanese Society of Inflammation and Regeneration
Selected
publications
  1. Yoshida T, Awaya T, Jonouchi T, Kimura R, Kimura S, Era T, Heike T, Sakurai H. A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells. Sci Rep. 2017 Oct 18;7(1):13473. doi: 10.1038/s41598-017-14063-y. PMID: 29044175; PMCID: PMC5647434.
  2. Nakano-Kobayashi A, Awaya T, Kii I, Sumida Y, Okuno Y, Yoshida S, Sumida T, Inoue H, Hosoya T, Hagiwara M. Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):10268-10273. doi: 10.1073/pnas.1704143114. Epub 2017 Sep 5. PMID: 28874550; PMCID: PMC5617268.
  3. Knaus A*, Awaya T*, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19. PMID: 27120253; PMCID: PMC5084765. (*co-first authors)
  4. Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA. Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. Neurology. 2015 Apr 21;84(16):1714-6. doi: 10.1212/WNL.0000000000001499. Epub 2015 Mar 27. PMID: 25817839; PMCID: PMC4409585.
  5. Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, Nishikomori R, Funatsuka M, Ohshima Y, Sugawara Y, Yasumi T, Kato H, Shirai T, Ohara O, Fujita T, Heike T. Aicardi-Goutières syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014.06.007. PMID: 24995871; PMCID: PMC4085581.