Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases have clinical and molecular counterparts in humans. The affected dogs have thus become valuable models for preclinical studies of gene therapy for problems such as eye diseases, immunodeficiency, lysosomal storage diseases, hemophilia, and muscular dystrophy. Successful gene therapies in dogs have significantly contributed to decisions to run clinical trials for several human diseases, such as Leber’s congenital amaurosis 2—LCA2 (caused by a mutation of RPE65), X-linked retinitis pigmentosa—XLRP (caused by mutation RPGR), and achromatopsia (caused by mutation of CNGB3). Promising results were also obtained for canine as follows: hemophilia (A and B), mucopolysaccharidoses (MPS I, MPS IIIB, MPS VII), leukocyte adhesion deficiency (CLAD), and muscular dystrophy (a counterpart of human Duchenne dystrophy). Present knowledge on molecular background of canine monogenic diseases and their successful gene therapies prove that dogs have an important contribution to preclinical studies.

中文翻译：

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犬单基因疾病基因治疗对临床前研究进展的影响

对狗基因组组织知识的快速进展促进了对导致许多单基因疾病的突变的识别，这些疾病通常呈现品种特异性分布。这些疾病中的大多数在人类中都有临床和分子对应物。因此，受影响的狗已成为针对眼病、免疫缺陷、溶酶体贮积病、血友病和肌营养不良等问题的基因治疗临床前研究的有价值的模型。狗身上成功的基因疗法极大地促进了针对多种人类疾病进行临床试验的决策，例如莱伯氏先天性黑蒙 2—LCA2（由RPE65突变引起）、X 连锁色素性视网膜炎—XLRP（由 RPGR 突变引起）、和全色盲（由CNGB3突变引起）。犬科动物也获得了如下有希望的结果：血友病（A 和 B）、粘多糖贮积症（MPS I、MPS IIIB、MPS VII）、白细胞粘附缺陷（CLAD）和肌营养不良（人类杜氏营养不良）。目前对犬单基因疾病的分子背景及其成功的基因治疗的了解证明，狗对临床前研究做出了重要贡献。