Pregled bibliografske jedinice broj: 540730
Genomic approaches in development of novel diagnostic paradigms for neurodegenerative diseases
Genomic approaches in development of novel diagnostic paradigms for neurodegenerative diseases // The 7th ISABS Conference on Forensic, Anthropologic and Medical Genetics and 5th Croatian Congress of Human Genetics
Bol, Hrvatska, 2011. (pozvano predavanje, domaća recenzija, sažetak, znanstveni)
CROSBI ID: 540730 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Genomic approaches in development of novel diagnostic paradigms for neurodegenerative diseases
Autori
Borovečki, Fran
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Skup
The 7th ISABS Conference on Forensic, Anthropologic and Medical Genetics and 5th Croatian Congress of Human Genetics
Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 24.06.2011
Vrsta sudjelovanja
Pozvano predavanje
Vrsta recenzije
Domaća recenzija
Ključne riječi
genomics; biomarkers; neurodegenerative diseases
Sažetak
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.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti
