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.
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.
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.
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.
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.