Sporadic hidradenitis suppurativa (spHS) is a multifactorial disease in which genetic predisposition is intertwined with environmental factors. Owing to the still-to-date limited knowledge of spHS genetics, we calculated polygenic scores (PGSs) to study the genetic underpinnings that contribute to spHS within European demographic. A total of 256 patients with spHS and 1686 healthy controls were analyzed across 6 European clinical centers.
View Article and Find Full Text PDFThe sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy. The extensive use of NIPT, as a screening method, has highlighted the limits of the technique, including false positive and negative results. Feto-placental mosaicism is a challenging biological issue and is the most frequent cause of false positive and negative results in NIPT screening, and of discrepancy between NIPT and invasive test results.
View Article and Find Full Text PDFCongenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes.
View Article and Find Full Text PDFRheumatoid and psoriatic arthritis (RA and PsA) are inflammatory rheumatic disorders characterised by a multifactorial etiology. To date, the genetic contributions to the disease onset, severity and drug response are not clearly defined, and despite the development of novel targeted therapies, ~10% of patients still display poor treatment responses. We characterised a selected cohort of eleven non-responder patients aiming to define the genetic contribution to drug resistance.
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