Ricerc@Sapienza

Ankylosing spondylitis (AS) and the related spondyloarthritis (SpA) have become an extremely productive field in immunogenetic research over the last several years, justifying an update. This timely special issue will thoroughly cover the strong heritability of SpA by tackling the explosion of new genetic discoveries in SpA, paving the way for functional studies and also interrogating the striking but still mysterious role of HLA-B27 in disease susceptibility.

Frailty encompasses several domains (i.e., metabolic, physical, cognitive). The multisystem derangements underlying frailty pathophysiology, its phenotypic heterogeneity, and the fluctuations of individuals across severity states have hampered a comprehensive appraisal of the condition.

Metagenomics is one of the newest omics system science technologies but also one that has arguably the broadest set of applications and impacts globally. Metagenomics has found vast utility not only in environmental sciences, ecology and public health but also in clinical medicine and looking into the future, in planetary health. In line with the One Health concept, metagenomics solicits collaboration between molecular biologists, geneticists, microbiologists, clinicians, computational biologists, plant biologists, veterinarians and other healthcare professionals.

Metagenomics has gained worldwide prominence as one of the indispensable omics technologies over the past several years in particular. Metagenomics applications in clinical medicine, ecology, planetary health and built environments are increasingly reported in the literature. Many countries are both striving and struggling to cultivate metagenomics scholarship as one of the drivers of life sciences innovation in early 21st century. Italy is no exception and has made important strides in metagenomics over the past decade.

Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental condition associated with intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidities. HVDAS is caused by mutations in activity-dependent neuroprotective protein (ADNP). A recent study identified genome-wide DNA methylation changes in 22 individuals with HVDAS, adding to the group of neurodevelopmental disorders with an epigenetic signature. This methylation signature segregated those with HVDAS into two groups based on the location of the mutations.

Background: Next-generation sequencing (NGS) needs to be validated and standardized to ensure that cancer patients are reliably selected for target treatments. In Italy, NGS is performed in several institutions and harmonization of wet and dry procedures is needed. To this end, a consortium of five different laboratories, covering the most part of the Italian peninsula, was constituted.

Breast cancer (BC) is the most common malignancy in women worldwide.
Breast cancer related mortality has dropped significantly since the widespread
adoption of mammographic screening. Approximately, 5% of the patients with BC
carry germline mutations that are responsible for their condition. Women carrying a
BRCA 1 or 2 mutation have a 57% and 49% lifetime risk of developing breast cancer,
respectively. For BRCA1/2 patients reluctant to a prophylactic surgery, the only
risk reducing strategy remains an increased imaging and clinical surveillance.

Objective- Loss-of-function (LOF) variants in the ANGPTL3 (angiopoietin-like protein 3) have been associated with low levels of plasma lipoproteins and decreased coronary artery disease risk. We aimed to determine detailed metabolic effects of genetically induced ANGPTL3 deficiency in fasting and postprandial state. Approach and Results- We studied individuals carrying S17X LOF mutation in ANGPTL3 (6 homozygous and 32 heterozygous carriers) and 38 noncarriers. Nuclear magnetic resonance metabolomics was used to quantify 225 circulating metabolic measures.

Molecular profiling of DNA and RNA has provided valuable new insights into the genetic basis of non-malignant and malignant disorders, as well as an increased understanding of basic mechanisms that regulate human disease.