Colorado Program for Musculoskeletal Research, Department of Orthopedics, University of Colorado, Anschutz Medical Campus, 12800 E 19th Ave, Aurora, CO, 80045, USA.
Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
Curr Osteoporos Rep. 2023 Apr;21(2):184-192. doi: 10.1007/s11914-023-00781-y. Epub 2023 Mar 4.
Herein, we report on the proceedings of the workshop entitled "Post-Genome analysis for musculoskeletal biology" that was held in July of 2022 in Safed, Galilee, Israel. Supported by the Israel Science Foundation, the goal of this workshop was to bring together established investigators and their trainees who were interested in understanding the etiology of musculoskeletal disease, from Israel and from around the world.
Presentations at this workshop spanned the spectrum from basic science to clinical studies. A major emphasis of the discussion centered on genetic studies in humans, and the limitations and advantages of such studies. The power of coupling studies using human data with functional follow-up studies in pre-clinical models such as mice, rats, and zebrafish was discussed in depth. The advantages and limitations of mice and zebrafish for faithfully modelling aspects of human disease were debated, specifically in the context of age-related diseases such as osteoporosis, osteoarthritis, adult-onset auto-immune disease, and osteosarcopenia. There remain significant gaps in our understanding of the nature and etiology of human musculoskeletal disease. While therapies and medications exist, much work is still needed to find safe and effective interventions for all patients suffering from diseases associated with age-related deterioration of musculoskeletal tissues. The potential of forward and reverse genetic studies has not been exhausted for diseases of muscles, joints, and bones.
本文报道了 2022 年 7 月在以色列加利利的塞法德举行的题为“肌肉骨骼生物学的后基因组分析”的研讨会的进展情况。该研讨会由以色列科学基金会资助,旨在汇集对了解肌肉骨骼疾病病因感兴趣的资深研究人员及其受训者,他们来自以色列和世界各地。
本次研讨会上的报告涵盖了从基础科学到临床研究的各个方面。讨论的一个主要重点是人类的遗传研究,以及此类研究的局限性和优势。深入讨论了将使用人类数据进行的研究与在小鼠、大鼠和斑马鱼等临床前模型中进行的功能后续研究相结合的优势。还详细讨论了小鼠和斑马鱼在真实模拟人类疾病方面的优缺点,特别是在与年龄相关的疾病(如骨质疏松症、骨关节炎、成人自身免疫性疾病和骨肌减少症)方面。我们对人类肌肉骨骼疾病的性质和病因仍存在重大认识差距。虽然存在治疗方法和药物,但仍需要做大量工作,为所有患有与年龄相关的肌肉骨骼组织恶化相关疾病的患者找到安全有效的干预措施。对于肌肉、关节和骨骼疾病的正向和反向遗传研究的潜力尚未耗尽。