A new diagnostic service for rare (neurologic) diseases in West-Hungary.

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-09-30 DOI:10.18071/isz.78.0331

Tompa Márton, Urbán Péter, Gálik Bence, Gazdagh Gabriella, Kajtár Béla, Kiss Zsuzsanna, Gyenesei Attila, Kálmán Bernadette

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引用次数: 0

Abstract

Background and purpose: Genetic services have not been evenly distributed in Hungary. Diagnostic services for rare diseases have particularly been scarce in the West end of the country. We aimed to fill this diagnostic gap.

Methods: We have created a new mod- el involving the molecular medicine (MM) service as a tertiary patient referral center at the Markusovszky University Teaching Hospital (MUTH) in contract with the Ge- nomics and Bioinformatics Core Facility of the Szentágothai Research Center, University of Pécs, and the iBioScience company, which provide whole exome sequencing and Sanger sequencing.

Results: We present our results of molecular genetic and genomic diagnostics for rare neurological diseases, and highlight a few cases where the identification of the caus- ative pathogenic or likely pathogenic variant resulted in direct benefit to the patient.

Conclusion: Our multidisciplinary collab- oration operating in less than two years has filled a gap in genetic services in the West-Hungary region, and yielded shortcuts to diagnostics, led to targeted therapy and supported family planning in several cases with rare neurological diseases.

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匈牙利西部罕见（神经）疾病的新诊断服务。

背景和目的：遗传服务在匈牙利的分布并不均匀。在该国西部，罕见病的诊断服务尤其稀少。我们的目标是填补这一诊断空白。方法：我们在马库索夫斯基大学教学医院（MUTH）与Szentágothai研究中心的基因组学和生物信息学核心设施以及提供全外显子组测序和Sanger测序的iBioScience公司合作，创建了一个新的模式，将分子医学（MM）服务作为三级患者转诊中心。结果：我们介绍了罕见神经系统疾病的分子遗传学和基因组诊断结果，并强调了几个病例，其中病原性或可能的致病变异的鉴定导致了患者的直接受益。结论：我们的多学科合作在不到两年的时间里填补了西匈牙利地区遗传服务的空白，为诊断提供了捷径，导致了靶向治疗，并支持了几例罕见神经疾病的计划生育。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ideggyogyaszati Szemle-Clinical Neuroscience CLINICAL NEUROLOGY-NEUROSCIENCES

CiteScore

1.30

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： The aim of Clinical Neuroscience (Ideggyógyászati Szemle) is to provide a forum for the exchange of clinical and scientific information for a multidisciplinary community. The Clinical Neuroscience will be of primary interest to neurologists, neurosurgeons, psychiatrist and clinical specialized psycholigists, neuroradiologists and clinical neurophysiologists, but original works in basic or computer science, epidemiology, pharmacology, etc., relating to the clinical practice with involvement of the central nervous system are also welcome.