Objective

Review of the current advancements in the field of paleogenetics that provide new opportunities in studying the evolution of rare genetic bone diseases.

Material and Methods

Based on cases from the literature, the genetics of rare bone diseases will be introduced and the main methodological issues will be addressed, focusing on the opportunities presented by the application of aDNA analyses in the field of paleopathology.

Results

Medical literature provides large datasets on the genes responsible for rare bone disorders. These genes, subdivided in functional categories, display important future targets when analyzing rare genetic bone disorders in ancient human remains.

Conclusions

Knowledge on both phenotype and genotype is required to study rare diseases in ancient human remains.

Significance

The proposed interdisciplinary research will provide new insight into the occurrence and spread of genetic risk factors in the past and will help in the diagnostics of these rare and often neglected diseases.

Limitations

The current limitations in ancient DNA research and targeting the disease-causing specific mutations (e.g., somatic or germline).

Suggestions for Further Research

Methodological advancements and candidate gene lists provide the optimal basis for future interdisciplinary studies of rare genetic bone disorders in ancient human remains.

中文翻译：

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罕见遗传性骨病的古代DNA分析

客观的

回顾古遗传学领域的当前进展，这些进展为研究罕见的遗传性骨病的演变提供了新的机会。

材料与方法

基于文献案例，将介绍罕见骨病的遗传学，并解决主要的方法学问题，重点关注 aDNA 分析在古病理学领域的应用所带来的机会。

结果

医学文献提供了有关导致罕见骨骼疾病的基因的大型数据集。这些基因按功能类别细分，在分析古代人类遗骸中的罕见遗传性骨骼疾病时显示出重要的未来目标。

结论

研究古代人类遗骸中的罕见疾病需要有关表型和基因型的知识。

意义

拟议的跨学科研究将为过去遗传风险因素的发生和传播提供新的见解，并将有助于诊断这些罕见且经常被忽视的疾病。

限制

当前古代 DNA 研究的局限性和针对引起疾病的特定突变（例如，体细胞或种系）。

进一步研究的建议

方法论的进步和候选基因列表为未来对古代人类遗骸中罕见的遗传性骨病的跨学科研究提供了最佳基础。