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Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
Nature Genetics ( IF 31.7 ) Pub Date : 2024-11-22 , DOI: 10.1038/s41588-024-02016-x
Rauan Kaiyrzhanov, Nazira Zharkinbekova, Ulviyya Guliyeva, Manizha Ganieva, Zaruhi Tavadyan, Tamar Gachechiladze, Kamran Salayev, Sughra Guliyeva, Mariam Isayan, Mariam Kekenadze, Biayna Sukhudyan, Ani Gevorgyan, Artsruni Hakobyan, Rima Ibadova, Nazi Tabatadze, Ekaterina Kurua, Teona Shatirishvili, Nigara Yerkhojayeva, Kairgali Koneev, Dauren Zhumakhanov, Askhat Mukushev, Altynshash Jaxybayeva, Alissa Nauryzbayeva, Maksudjon Isrofilov, Saadat Badalova, Naila Zeyniyeva, Ilaha Hajiyeva, Leyla Alakbarov, Aynur Zeynalova, Viorica Chelban, Jana Vandrovcova, Valentina Turchetti, David Murphy, Stephanie Efthymiou, Shahryar Alavi, Rahema Mohammad, Tinatin Tkemaladze, Chingiz Shashkin, Nana Nino Tatishvili, Maia Beridze, Samson G. Khachatryan, Gia Melikishvili, John Hardy, Reza Maroofian, Henry Houlden

Considerable advancements in genomic medicine since the Human Genome Project have provided molecular diagnoses to many families with rare diseases, including rare pediatric neurological diseases (RPND). These advancements have paved the way for personalized medicine, substantially increasing our understanding of human physiology and biochemical pathways. They have also opened new avenues for innovative and more effective treatments, benefiting not only those with rare diseases but also individuals with more common conditions.

However, despite these advancements and the decreasing cost of high-throughput sequencing, many regions worldwide remain underrepresented in human genetic research. Even in developed countries with access to state-of-the-art medical facilities, many families remain without a definitive diagnosis. A major challenge in diagnosing neurogenetic disorders is the difficulty in interpreting sequence variants and the high prevalence of variants of uncertain significance, largely owing to the incomplete catalog of human variants across populations. This issue is further exacerbated by the scarcity of individuals with genetically confirmed rare diseases, driven by limited access to next-generation sequencing and comprehensive genetic testing for the majority of people globally.



中文翻译:


阐明中亚和外高加索地区罕见儿科神经系统疾病的基因组基础



自人类基因组计划以来,基因组医学取得了长足的进步,为许多患有罕见病的家庭提供了分子诊断,包括罕见的儿科神经系统疾病 (RPND)。这些进步为个性化医疗铺平了道路,大大增加了我们对人类生理学和生化途径的理解。它们还为创新和更有效的治疗方法开辟了新的途径,不仅使罕见病患者受益,而且使患有更常见疾病的人受益。


然而,尽管取得了这些进步并且高通量测序的成本不断降低,但全球许多地区在人类遗传学研究中仍然代表性不足。即使在拥有最先进医疗设施的发达国家,许多家庭仍然没有明确的诊断。诊断神经遗传学疾病的一个主要挑战是难以解释序列变异和意义不确定的变异的高普遍性,这主要是由于不同人群中人类变异的目录不完整。由于全球大多数人获得下一代测序和全面基因检测的机会有限,经基因证实的罕见病个体稀缺进一步加剧了这一问题。

更新日期:2024-11-22
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