Emeli Pontén

Comorbidities and cancer risk in congenital ID syndromes

Emeli Pontén

Populärvetenskaplig sammanfattning av projektet
Genetic syndromes and cancer correlations have been investigated thoroughly within the larger patient groups such as Downs syndrome, revealing a higher incidence of for instance testis cancer and leukemia. However, for the patients with less common disorders such as Noonan syndrome there is still limited knowledge of specific tumor susceptibility and other comorbidities. With our registry-based project we have gathered a large amount of data linking genetic disorders with cancer, whereby biostatistics and AI will help us outline how intellectual disability syndromes and cancer are related. DICER1 is a gene crucial for the development of a human embryo and controls many other genes important for normal growth early in life. Mutations in this gene have been associated with a range of symptoms, primarily various tumors, but also autism and intellectual disability. Our ambition is to experimentally study DICER1 mutations in zebrafish, in order to comprehend the intricate association with symptoms beyond cancer predisposition.

Alla stipendiater 2020

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