| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Development of new treatments for geneme instability syndromes using synthetic oligonucleotides and functional short peptides |
| Name of principal investigator |
Tomoo Ogi |
| Name of institution of the principal investigator |
Research Institute of Environmental Medicine, Nagoya University |
| Target disease |
Genome instability syndromes caused by defects in DNA repair and DNA damage response, such as xeroderma pigmentosum, Cockayne syndrome, Seckel syndrome, UV-sensitive syndrome, primary microcephaly, Li-Fraumeni syndrome, juvenile and familial tumors, familial thyroid cancer, familial adenomatous goiter, RecQ helicase gene disorders, Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, congenital immunodeficiency, progeria, Fanconi anemia, other neurodegenerative diseases, etc. |
| Registry name |
Registry of patients with genome instability disorders |
| Purpose of registry |
Investigation into the number or the distribution of patients, Sample collection, Investigation of biomarkers, Genetic analysis study, Provision of information to registered patients, Provision of information to physicians in charge
|
| Overview of registry |
1. Collection of clinical samples from patients with genome instability and management of clinical centre (cell-based functional analysis, NGS clinical sequencing and deep proteomics)
2. Sample banking (DNA and cells from patients)
3. Disease database (genomic variants, molecular functions and clinical symptoms)
4. Collection of epidemiological information (e.g., patient distribution, individual exacerbrating and prognostic factors and disease types)
5. Screening of medicine for the relief6. Dissemination of infromation to clinicians, patients and patient associations
|
| Research item |
Sex, Date of birth, Family history, Past medical history, Complication, History of present illness, History of treatment, Laboratory data
|
| Contact |
Tomoo Ogi |
| E-mail address |
genetics.riem●gmail.com |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
