The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment
| العنوان: | The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment |
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| المؤلفون: | Paul Langard, Maria Grazia Biferi, Giorgia Querin, Piera Smeriglio |
| المساهمون: | Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Gestionnaire, Hal Sorbonne Université, Centre de recherche en Myologie – U974 SU-INSERM, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS) |
| المصدر: | Journal of Personalized Medicine Journal of Personalized Medicine, MDPI, 2020, 10 (3), pp.75. ⟨10.3390/jpm10030075⟩ Journal of Personalized Medicine, 2020, 10 (3), pp.75. ⟨10.3390/jpm10030075⟩ Journal of Personalized Medicine, Vol 10, Iss 75, p 75 (2020) |
| بيانات النشر: | MDPI, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | lcsh:Medicine, Medicine (miscellaneous), adult patients, Disease, Review, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, disease modifiers, Nusinersen, medicine, 030304 developmental biology, spinal muscular atrophy, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, omics approaches, lcsh:R, epigenetic changes, biomarkers, Spinal muscular atrophy, Omics, medicine.disease, Precision medicine, SMA, disease heterogeneity, 3. Good health, Natural history, functional outcomes, Identification (biology), business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| الوصف: | International audience; Spinal muscular atrophy (SMA) is currently classified into five different subtypes, from the most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function achieved, and copy number of the SMN2 gene. The two recent approved treatments for SMA patients revolutionized their life quality and perspectives. However, upon treatment with Nusinersen, the most widely administered therapy up to date, a high degree of variability in therapeutic response was observed in adult SMA patients. These data, together with the lack of natural history information and the wide spectrum of disease phenotypes, suggest that further efforts are needed to develop precision medicine approaches for all SMA patients. Here, we compile the current methods for functional evaluation of adult SMA patients treated with Nusinersen. We also present an overview of the known molecular changes underpinning disease heterogeneity. We finally highlight the need for novel techniques, i.e., -omics approaches, to capture phenotypic differences and to understand the biological signature in order to revise the disease classification and device personalized treatments. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2075-4426 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe4a0a4ddace8260c28c6b82aa916dcTest http://europepmc.org/articles/PMC7564782Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4fe4a0a4ddace8260c28c6b82aa916dc |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20754426 |
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