Department of Human Genetics

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遺伝学教室(Department of Human Genetics)は、先端的ゲノム解析手法を駆使したさまざまなヒト疾患の原因解明に精力的に取り組んでいます。ヒトゲノムシーケンス完了(2003年)以降様々な技術革新が起こり、世界中がヒト疾患の遺伝素因を明らかにすべく精力的な研究を展開しています。中でも次世代シーケンサーの登場(2005年)は、ヒトゲノム解析に革命をもたらしました。この技術によってヒト全遺伝子や全ゲノム解析が1研究室のレベルで実現可能となり、症例1例1例の網羅的解析(パーソナルゲノム解析)が実現しました。ヒト疾患は少なくと8200種類はあるといわれていますが、これまでに遺伝的原因(責任遺伝子とその変異)が明らかにされた疾患は約4800程度で数多くの疾患の原因が未解明のまま残されています。我々はこれまでに30程度の疾患について世界に先駆けて遺伝的原因を明らかにすることができました。この成果は国内外でも突出した成果です。



For non-Japanese (sorry only English)    Updated on May 1, 2016

Matsumoto’s Lab

Our lab was established in 2003. Main focus of our lab is isolation of a causative gene for human diseases. We have been successful in finding genes for the following diseases.
Sotos syndrome (Nat Genet 2002)
Marfan syndrome type II (Nat Genet 2004)
Ohtahara syndrome (Nat Genet 2008)
West syndrome (Am J Hum Genet 2010)
D4ST1-deficient Ehlers-Danlos syndrome (Hum Mut 2010)
Anophthalmia with limb anomaly (Am J Hum Genet 2011)
Autosomal recessive spinocerebellar ataxia (Am J Hum Genet 2011)

HCAHC (Am J Hum Genet 2011)
Porencephaly (Am J Hum Genet 2012)
Coffin-Siris syndrome (Nat Genet 2012)
SENDA (Nat Genet 2013)
Epileptic encephalopathy (Am J Hum Genet 2014)
Nemaline Myopathy (Am J Hum Genet 2014)
Coffin-Siris syndrome (Nat Commun 2014)
Steroid-registant nephrotic syndrome (Am J Hum Genet 2015)
Focal Cortical Dysplasia (Ann Neurol 2015)

We are also interested in chromosomal abnormalities related to human diseases. Structural abnormalities associate with Sotos syndrome and intellectual disabilities have been successfully characterized.
We are very much enthusiastic about introducing new technologies to our human genetic studies. Our laboratory is well equipped with the most advanced machines for genome analysis as follows.
Next generation sequencers: Sequel, Hiseq2000 and 2500, Genome analyzer IIx, Ion PGM, Miseq
Microarray: Affymetrix scanner, Agilent scanner, Illumina iSCAN
Young talented people with ambition are very welcome to our laboratory. If you have any interests, please feel free to contact with us using the following e-mail address:
(* should be replaced to @ when you email)


Professor: Naomichi Matsumoto (MD/PhD)
Associate professor: Noriko Miyake (MD/PhD)

Assistant professors: Atsushi Takata (MD/PhD)/ Takeshi Mizuguchi (MD/PhD)/ Mitsuko Nakashima (MD/PD)
/ Satoko Miyatake (MD/PD)