Kosuke Izumi, M.D., Ph.D.

Dr. Izumi obtained his MD and PhD at Keio University School of Medicine, where he studied molecular mechanism of pediatric genetic disorders.  He completed clinical pediatrics and genetics training at Rainbow Babies and Children’s Hospital and the Children’s Hospital of Philadelphia. He achieved board certification in pediatrics and medical genetics. After the clinical training, he became a post-doc at the Children’s Hospital of Philadelphia and the University of Tokyo. During his post-doc training, he investigated molecular mechanism of a chromosomal disorder, Pallister-Killian syndrome, and syndromic neurodevelopmental disorders. Prior to joining the University of Texas Southwestern, he was a faculty member of the Children’s Hospital of Philadelphia. In 2023, he joined the Department of Pediatrics, University of Texas Southwestern. His research lab has focused on projects studying the molecular mechanisms of Pallister-Killian Syndrome, nuclear speckle disorders, and chromatin disorders. His group discovered causative genes for many Mendelian disorders, and those include AFF4, ARCN1, NKAP, and CBX1. By employing cutting-edge genomic technologies, his research aims to link the clinical findings of patients with genetic disorders to underlying genomic functional alterations. 

Medical School

Keio University School of Medicine/Tokyo (2003)

Other Post Graduate Training

Keio University Graduate School of Medicine/Tokyo (2008)

Residency

Case Western Reserve University/University Hospitals Case Medical Center (2010), Pediatrics

Residency

Children's Hospital of Philadelphia (2012), Pediatrics & Medical Genetics

• Chromatin biology
• Chromosome biology
• Dysmorphology
• Epigenetics
• Neurocognitive impairment
• Transcriptomics

Featured Publications

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.

Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K, Genet Med 2023 Jul 25 7 100861

Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.

Regan-Fendt KE, Izumi K, Hum Genet 2023 Mar

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K, Am J Hum Genet 2019 Nov 105 5 987-995

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.

Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID Nat. Genet. 2015 Apr 47 4 338-44

Pallister-Killian syndrome.

Izumi K, Krantz ID, Am J Med Genet C Semin Med Genet 2014 Dec 166C 4 406-13

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

Kaur M, Izumi K, Wilkens AB, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID, PLoS One 2014 9 10 e108853

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID, Am J Med Genet A 2023 Aug 191 8 2113-2131

Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.

Regan-Fendt KE, Rippert AL, Medne L, Skraban CM, DeJesse J, Gray C, Reichert SL, Staropoli NP, Santos FJR, Krantz ID, Murrell JR, Izumi K, Am J Med Genet A 2023 Aug 191 8 2149-2155

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.

O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Mor-Shaked H, Rippert AL, Nomakuchi T, Izumi K, Kollman JM, J Biol Chem 2023 Jul 299 8 105012

Unmasking the challenges of Kabuki syndrome in adulthood: A case series.

Priestley JRC, Rippert AL, Condit C, Izumi K, Kallish S, Drivas TG, Am J Med Genet C Semin Med Genet 2023 Jun 193 2 128-138

• Distinguished Research Trainee Award at the Children's Hospital of Philadelphia
  (2013-2013)
• American Academy of Pediatrics, Resident Research Grant recipient
  (2009-2009)
• 21st Century Center of Excellence (COE) Program Research Associate Award
  (2005-2006)
• Fellowship award from Bo-shi Aiikukai Foundation
  (2005-2005)
• Medical Student Outstanding Research Award at Keio University School of Medicine
  (2001-2001)