Ricerc@Sapienza

The 22q11 deletion syndrome (22q11DS), or DiGeorge syndrome (DG), is one of the most common genetic deletion syndromes. DG also carries a high risk for psychiatric disorders, with learning disabilities frequently being reported. Impairments in specific cognitive domains, such as executive functioning and attention, have also been described. The aim of this study was to investigate attentional functioning in a group of subjects with DG using ERPs, and in particular the P300 and CNV components.

Right Brain Damaged patients with left spatial neglect (N+), are characterised by poor allocation of attention in the contralesional left side of space. In a recent study (Lasaponara et al., 2018) we showed during orienting of spatial attention with endogenous central cues, both the EEG markers reflecting the early phases of orienting (Early Directing Attention Negativity) and those reflecting the late setting-up of sensory facilitation in the visual cortex (Late Directing Attention Positivity) are disturbed in N+ when these patients attend the left side of space.

Gene families underlie genetic innovation and phenotypic diversification. However, our understanding of the early genomic and functional evolution of tandemly arranged gene families remains incomplete as paralog sequence similarity hinders their accurate characterization. The Drosophila melanogaster-specific gene family Sdic is tandemly repeated and impacts sperm competition.

Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includes screening for single nucleotide variants (SNVs), small insertions or deletions (indels), and Copy Number Variations (CNVs).

In the study of the electrophysiological correlates of attention, a phasic change in alertness has been classically related to a negative frontal-central shift called Contingent Negative Variation (CNV). Studies investigating the effects of meditation on the CNV in participants reporting frequent transcendental experiences (TE) reported reduced CNV in choice reaction time task (CRT), and increased CNV in simple reaction time task (SRT), suggesting that meditation can induce a more balanced attentional state.

The great impact of genetic factors in the field of congenital heart disease (CHD) was highlighted about 30 years ago by the Baltimore-Washington Infant Study. Moreover, recent genetic studies have shown their importance not only in detecting the cause of some heart malformations, but also in improving their treatment and prognosis.
Three fields may be recognized in which genetic studies have enhanced our knowledge and ability to care for children with CHD:
• Reverse medicine includes genotype-phenotype correlations and the new diagnostic criteria to classify CHD.

Gene families underlie genetic innovation and phenotypic diversification. However, our understanding of the early genomic and functional evolution of tandemly arranged gene families remains incomplete as paralog sequence similarity hinders their accurate characterization. The D. melanogaster-specific gene family Sdic is tandemly repeated and impacts sperm competition.