Francesca Antonaros

Thesis opportunities Title: Role of epigenetic and transcriptomic profiles on cognitive impairment in Down syndrome.

Down syndrome (DS) or trisomy 21 (T21) is characterized by the presence of an extra full or partial copy of chromosome 21 (Hsa21). It is the most common chromosomal disorder in humans and, with an incidence of 1 in approximately 800 live births, is the leading genetic cause of intellectual disability (ID). Individuals with DS are characterized by a complex and variable phenotype associated with several clinical features, the most consistent of which is ID. Transcriptomic and metabolic profiles will be correlated with cognitive test scores, and we expect that distinct cognitive profiles will correspond to distinct methylation and gene expression profiles.

A DNA methylation profile will be performed on DNA extracted from blood samples using the Illumina Infinium HumanMethylation450 BeadChip, which measures the methylation levels of more than 450,000 CpG sites throughout the entire genome. Gene expression analyses will be performed using RNA sequencing of total RNA (mRNA and non-coding RNA) on the Illumina NovaSeq 6000, with a throughput of 12 Gb.

Students contribute:

There are numerous aspects of the project that you could contribute to, such as blood samples collection, DNA and RNA extraction, methylation and transcriptomic analyses, and interpretation. If you are enthusiastic about genetics, neuroscience, or related fields, this could be an exciting opportunity for you to gain valuable research experience.

Published on: October 08 2025