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The project, funded by the PNRR under Mission 4 "Education and Research," aims to strengthen the network of Italian biobanks by improving data management in accordance with the FAIR principles (Findable, Accessible, Interoperable, Reusable). The University of Trento has issued a call for proposals to support Italian biobanks in characterizing samples and expanding associated datasets using advanced technologies.
The Biological Resource Center at the Rizzoli Orthopedic Institute in Bologna participated in this call for proposals, requesting funding to analyze the DNA methylation profiles of three patient cohorts: those with inflammatory/degenerative diseases, sarcomas, and rare genetic musculoskeletal disorders. This study will contribute to understanding the biological significance of methylation and exploring its diagnostic and therapeutic potential.
The initiative aims to generate data useful for personalized medicine and improve the management of the diseases involved.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| inflammatory/degenerative diseases | inflammatory articular diseases (blood) | ||
| rare diseases | Rare bone diseases (Blood, tissue) | ||
| sarcomas | sarcomas of bones and cartilage (tissue) |
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| Measure | Description | Time Frame |
|---|---|---|
| methylation profiles | Detect the methylation profiles of a cohort of samples stored at the CRB (rare genetic diseases, sarcomas, inflammatory arthritis) to expand the dataset of samples held at the CRB-IOR. | 5 months |
| Measure | Description | Time Frame |
|---|---|---|
| Fairyfication of methilation profiles | Fairyfication of data derived from methilation profiles to be linked to biological samples present on BBMRI catalogue. Data comprises desease (orphacode, ICD10), age (years month), sample type (blood, tissue, DNA), sample collection date (dd/mm/yyyy), gender (F, M), Informed Consent (mandatory) | 5 months |
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Inclusion Criteria:
Exclusion Criteria:
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patients affected by a rare skeletal disorder, sarcoma, or inflammatory arthritis.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Istituto Ortopedico Rizzzoli | Bologna | BO | 40136 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30456829 | Background | Velasco G, Francastel C. Genetics meets DNA methylation in rare diseases. Clin Genet. 2019 Feb;95(2):210-220. doi: 10.1111/cge.13480. Epub 2018 Dec 18. | |
| 38374872 | Background | Gu M, Ren B, Fang Y, Ren J, Liu X, Wang X, Zhou F, Xiao R, Luo X, You L, Zhao Y. Epigenetic regulation in cancer. MedComm (2020). 2024 Feb 19;5(2):e495. doi: 10.1002/mco2.495. eCollection 2024 Feb. |
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| ID | Term |
|---|---|
| D012516 | Osteosarcoma |
| ID | Term |
|---|---|
| D018213 | Neoplasms, Bone Tissue |
| D009372 | Neoplasms, Connective Tissue |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D009370 | Neoplasms by Histologic Type |
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blood, tissue
| 29194108 | Background | Hammaker D, Firestein GS. Epigenetics of inflammatory arthritis. Curr Opin Rheumatol. 2018 Mar;30(2):188-196. doi: 10.1097/BOR.0000000000000471. |
| 38187379 | Background | Hageman I, Mol F, Atiqi S, Joustra V, Sengul H, Henneman P, Visman I, Hakvoort T, Nurmohamed M, Wolbink G, Levin E, Li Yim AYF, D'Haens G, de Jonge WJ. Novel DNA methylome biomarkers associated with adalimumab response in rheumatoid arthritis patients. Front Immunol. 2023 Dec 22;14:1303231. doi: 10.3389/fimmu.2023.1303231. eCollection 2023. |
| 34105306 | Background | de la Calle-Fabregat C, Niemantsverdriet E, Canete JD, Li T, van der Helm-van Mil AHM, Rodriguez-Ubreva J, Ballestar E. Prediction of the Progression of Undifferentiated Arthritis to Rheumatoid Arthritis Using DNA Methylation Profiling. Arthritis Rheumatol. 2021 Dec;73(12):2229-2239. doi: 10.1002/art.41885. Epub 2021 Nov 2. |
| D009369 | Neoplasms |
| D012509 | Sarcoma |