Activity report

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Introduction

Rare diseases are classified by the Ministry of Health, Labor and Welfare as those diseases with less than 50,000 patients in total.
Cures are highly needed for these rare diseases.
However, it is difficult to establish early diagnoses and to proceed in research and development of therapeutic drugs and medical instruments for these diseases because the number of patients is extremely small.

In this project, we aim to clarify the onset mechanisms of rare diseases,
develop diagnostic and therapeutic methods, and create therapeutic drugs by establishing
a cross-department research system in cooperation with other universities’ medical faculties and hospitals, and working with pharmaceutical companies.

Research subject

Scientific research towards cause investigation
and development of therapies for rare and intractable diseases.

In this project, we mainly focus on four diseases,
in which causative genes and proteins
were identified among the rare and intractable diseases.

Cause elucidation of transporter dysfunction in Fanconi syndrome and Bartter syndrome.

Fanconi syndrome (FS) is the general functional disorder of proximal tubules, and is a syndrome in which many substances like glucose, amino acids and phosphate cannot be reabsorbed and wasted in urine. Consequently, rickets is observed in child patients whereas osteomalacia is observed in adult patients. In this research program, we try to study the detailed development mechanism and preventation of Fanconi syndrome (FS).
In this research program, we try to study the detailed development mechanisms of Fanconi syndrome (FS) and Bartter syndrom (BS), and their preventation.

Fanconi syndrome Details For more information

Functional analysis of causative genes for Rett syndrome

Rett syndrome (RTT) is a rare disease that is associated with mental retardation, epilepsy, autism, stereotyped movements of the hands. RTT affects 1 in 10,000~15,000 girls worldwide, and it is reported that an estimated 5,000 patients exist in Japan.
In this research, we aim to propose therapeutic options by clarifying the mechanism of the onset of Rett syndrome.

Rett syndrome Details For more information

Functional analysis of the gene products related to Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of expression of paternal genes on chromosome 15. Major characteristics includes short stature, obesity, hypogonadism, respiratory distress, pain insensitivity and cognitive delays.
We will focus on the features of PWS that are related to obesity in order to understand the mechanisms involved in its pathogenesis and to explore novel therapeutic options.

Prader-Willi syndrome  Details For more information

Elucidation of the mechanism underlying laminopathies and development of their therapies

The goals of our research are to elucidate the mechanism underlying two laminopathies and to develop new therapies for these diseases by cutting-edge methods of various research fields including proteomics, cell biology, in silico structural biology, and drug design.

Laminopathies Details For more information

Information

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Project members

Cause elucidation of transporter dysfunction in Fanconi syndrome and Bartter syndrome.

浅野 真司

Shinji AsanoProfessor, College of Pharmaceutical Sciences, Department of Pharmacy

藤田 典久

Norihisa FujitaEmeritus Professor, College of Pharmaceutical Sciences, Department of Pharmacy

川口 高徳

Kotoku KawaguchiAssistant Professor, College of Pharmaceutical Sciences, Department of Pharmacy

y2 The details of research subjects here

Functional analysis of causative genes for Rett syndrome

稲津 哲也

Tetsuya InazuProfessor, College of Pharmaceutical Sciences, Department of Pharmacy

伊藤 將弘

Masahiro ItoProfessor, College of Life Sciences, Department of Bioinformatics

河野 貴子

Takako KawanoAssociate Professor, College of Pharmaceutical Sciences, Department of Pharmacy

片山 将一

Syouichi KatayamaAsssistant Professor, College of Pharmaceutical Sciences, Department of Pharmacy

久保田 幸彦

Yukihiko KubotaAssistant Professor, College of Life Sciences, Department of Bioinformatics

y2 The details of research subjects here

Functional analysis of the gene products related to Prader-Willi syndrome

谷浦秀夫

Hideo TaniuraProfessor, College of Pharmaceutical Sciences, Department of Pharmacy

田中秀和

Hidekazu TanakaProfessor, College of Life Sciences, Department of Biomedical Sciences

鈴木 健二

Kenji SuzukiProfessor, College of Pharmaceutical Sciences, Department of Pharmaceutical Siences

正木 聡

So MasakiAsssistant Professor, College of Pharmaceutical Sciences, Department of Pharmacy

添田修平

Shuhei SoedaAsssistant Professor, College of Pharmaceutical Sciences, Department of Pharmacy

中谷仁

Jin NakataniAssociate Professor, College of Life Sciences Department of Biomedical Sciences

y2 The details of research subjects here

Elucidation of the mechanism underlying laminopathies and development of their therapies

早野 俊哉

Toshiya HayanoProfessor, College of Life Sciences, Department of Biomedical Sciences

菊地 武司

Takeshi KikuchiProfessor, College of Life Sciences, Department of Bioinformatics

萬年 太郎

Taro MannenAssistant professor, College of Life Sciences, Department of Biomedical Sciences

杉田 昌岳

Masatake SugitaAssistant Professor, College of Life Sciences, Department of Bioinformatics

y2 The details of research subjects here