engleski

Genomic approaches in development of novel diagnostic paradigms for neurodegenerative diseases

Genomic blood biomarkers hold great promise for development of novel clinical and therapeutic approaches in patients with neurodegenerative diseases. Such biomarkers could prove invaluable in early diagnosis of disease, monitoring of disease progression or assessment of response to therapy. More importantly, they could be helpful in search for disease-modifying new therapies which are very much needed in modern approaches to treatment of neurodegenerative diseases, serving as surrogate endpoints in clinical trials. However, when performing expression profiling experiments aimed at discovery of new biomarker genes, standard operating procedures regarding sample collection, microarray methodology and statistical analysis need to be fully developed and strictly adhered to. We have performed several studies aimed at development of diagnostic biomarkers for neurodegenerative diseases, such as Huntington’s disease, spinocerebellar ataxia 17 (SCA-17), or multiple sclerosis and initial results offer promise that such approaches might prove useful in clinical practice. Novel microarray technologies, such as array comparative genomic hybridization (aCGH) also provide new tools for development of innovative diagnostic paradigms in neurological diseases. Crucial for successful application of any genomic biomarker will be confirmation in multiple independent patient cohorts and correlation of the improvement in biomarker endpoint with clinical improvement in longitudinal patient studies. A combination of approaches in biomarker discovery may in the end lead identification of promising candidates at DNA, RNA, protein and small molecule level.

genomics; biomarkers; neurodegenerative diseases

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