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Mendelian and Sporadic FTD: Disease Risk and Avenues from Genetics to Disease Pathways Through In Silico Modelling

Manzoni, C; Ferrari, R; (2021) Mendelian and Sporadic FTD: Disease Risk and Avenues from Genetics to Disease Pathways Through In Silico Modelling. Advances in Experimental Medicine and Biology , 1281 pp. 283-296. 10.1007/978-3-030-51140-1_17.

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Abstract

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.

Type: Article
Title: Mendelian and Sporadic FTD: Disease Risk and Avenues from Genetics to Disease Pathways Through In Silico Modelling
Location: United States
DOI: 10.1007/978-3-030-51140-1_17
Publisher version: https://doi.org/10.1007/978-3-030-51140-1_17
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Complex disorders, Environmental factors, FTD, Frontotemporal dementia, Genome-wide association studies, Graph theory, Mendelian genetics, Network analysis, Personalised medicine, Sporadic, Systems biology
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy > Pharmacology
URI: https://discovery.ucl.ac.uk/id/eprint/10121489
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