Cátia José Neves received a PhD Fellowship at UCIBIO-NOVA in 2021. Her PhD project is entitled 'Multi-Omics approach to understand Congenital Disorders of Glycosylation', and she is interested in answering the following questions: 

(1) How are the CDG-related genes epigenetically regulated in different organs/cells? 

(2) Can differential Gene or Allelic Expression of CDG-related genes explain the phenotypic heterogeneity in CDG? 

(3) How does Gene Expression of CDG-related genes vary across healthy tissues and gender? 

(4) What type of Allelic Expression of CDG-related genes is there in the healthy tissues? Does it change according to gender? 

(5) Are there expression or splicing Quantitative Trait Loci (eQTL/sQTL) for CDG-related genes?  

(6) How do pathogenic eQTLs for CDG-related genes exert their genetic effect on gene expression through altering open chromatin, DNA methylation, histone modification, transcription factor binding, chromatin interaction, or other post-transcriptional events? 

(7) Where are sQTLs for CDG-related genes located (e.g. in post-transcriptionally spliced introns, in the sequence of splice sites, and in the binding sites of RNA-binding proteins)?  

(8) Do the mutations in CDG-related genes impact methylome and transcriptome?