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Mendelian and sporadic FTD: disease risk and avenues from genetics to disease pathways through in silico modelling.

Manzoni, C. and Ferrari, R. (2021) Mendelian and sporadic FTD: disease risk and avenues from genetics to disease pathways through in silico modelling. In: Ghetti, B., Buratti, E., Boeve, B. and Rademakers, R. (eds.) Frontotemporal Dementias. Advances in Experimental Medicine and Biology, 1281. Springer, pp. 283-296. ISBN 9783030511395

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To link to this item DOI: 10.1007/978-3-030-51140-1_17


Frontotemporal dementia (FTD) is regarded as the second most common form of young-onset dementia after Alzheimer's disease (AD).FTD is a complex neurodegenerative condition characterised by heterogeneous clinical, pathological and genetic features. No efficient measures for early diagnosis and therapy are available.Familial (Mendelian) forms of disease have been studied over the past 20 years. Conversely, the genetics of sporadic forms of FTD (up to 70% of all cases) is understudied and still poorly understood. All this taken together suggests that more powerful and in-depth studies to tackle missing heritability and define the genetic architecture of sporadic FTD, with particular focus on the different subtypes (i.e. clinical and pathological diagnoses), are warranted.In parallel, it will be critical to translate the genetic findings into functional understanding of disease, i.e. moving from the identification of risk genes to the definition of risk pathways. It will be necessary to implement a paradigm shift - from reductionist to holistic approaches - to better interpret genetics and assist functional studies aimed at modelling and validating such risk pathways.In this chapter, we focus on the heterogeneous features of FTD touching upon its complex genetic landscape and discuss how novel approaches (e.g. computationally driven systems biology) promise to revolutionise the translation of genetic information into functional understanding of disease pathogenesis.

Item Type:Book or Report Section
Divisions:Life Sciences > School of Chemistry, Food and Pharmacy > School of Pharmacy > Medicinal Chemistry Research Group
ID Code:95740
Uncontrolled Keywords:Complex disorders, Environmental factors, FTD, Frontotemporal dementia, Genome-wide association studies, Graph theory, Mendelian genetics, Network analysis, Personalised medicine, Sporadic, Systems biology

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