Establishment of diagnostic center for photosensitive genodermatoses with deficient DNA repair
| Project/Area Number |
18K08283
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 53050:Dermatology-related
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| Research Institution | Osaka Medical College |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | コケイン症候群 / 紫外線 / 色素性乾皮症 / 表現型・遺伝型関連 / DNA修復 / 難病 / 遺伝型・表現型関連 / ＤＮＡ修復 / 皮膚がん |
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| Outline of Final Research Achievements |
Hereditary photodermatoses, xeroderma pigmentosum (XP) and Cockayne syndrome (CS), caused by congenital functional defects in the nucleotide excision repair (NER) system or the translesion synthesis (TLS) system, are both rare intractable diseases improved by the Japanese government. We have been developing XP genetic medicine for more than 20 years since 1998. For these 3 years (2018-2020), we analyzed 35 possible XP cases and 11 possible CS cases and newly confirmed 13 XP and 4 CS cases. In addition, we could observed genotype-phenotype correlation. Molecular and cellular diagnosis of XP and CS in our laboratory is an important mission for taking care of patients with XP/CS and improving their families’ quality of life in Japan.
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| Academic Significance and Societal Importance of the Research Achievements |
確定診断後は患者に対して遮光指導を行い、患者フォローのための医療体制を整えることができるため、早期の難病診断はきわめて重要である。XP、CSはいずれも小児慢性特定疾病であり、指定難病である。患者の合併症予防、予後改善、患者・家族のQOL向上のためにも、これらの疾患の早期確定診断は非常に重要であり、現在の難病制度の下、重要な業務であると考える。稀少疾患であるXP、CSが指定難病になり、皮膚科、小児科医など臨床医に疾病が認知され始めてきているので、これまで同様、我々が確立して維持しているXP、CSの分子細胞診断システムによる確診断の継続は国の難病行政にとっても重要なプロジェクトであると考える。
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Report
(4 results)
Research Products
(21 results)
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[Journal Article] Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.2018
Author(s)
Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann A.
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Journal Title
Journal of Medical Genetics
Volume: 55
Issue: 5
Pages: 329-343
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Book] DNA Repair Disorders2019
Author(s)
Moriwaki S, Sugasawa K, Guo C, Fujita T, Nishigori C, Hayashi M, Fassihi H, Kubota M, Orioki D, Kaneko H, Masutani C, Kobayashi J, Tamura D
Total Pages
221
Publisher
Springer
ISBN
9789811067211
Related Report
