Donatella Greco
A5008058617- Genetics and Neurodevelopmental Disorders
- Bacterial Infections and Vaccines
- Genomic variations and chromosomal abnormalities
- Vaccine Coverage and Hesitancy
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- HIV Research and Treatment
- HIV/AIDS drug development and treatment
- Genetic and rare skin diseases.
- Pneumonia and Respiratory Infections
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Metabolism and Genetic Disorders
- Health, Environment, Cognitive Aging
- COVID-19 epidemiological studies
- Chromatin Remodeling and Cancer
- Data-Driven Disease Surveillance
- Peripheral Neuropathies and Disorders
- HIV/AIDS Impact and Responses
- Congenital heart defects research
- Folate and B Vitamins Research
- Hepatitis Viruses Studies and Epidemiology
- Whipple's Disease and Interleukins
- Pneumocystis jirovecii pneumonia detection and treatment
- Influenza Virus Research Studies
Istituti di Ricovero e Cura a Carattere Scientifico
2006-2025
Casa Sollievo della Sofferenza
2025
Oasi Maria SS
2011-2024
Libera Università Internazionale degli Studi Sociali Guido Carli
2024
Northampton Community College
2024
Ministero della Salute
1987-2024
Istituto Superiore di Sanità
1991-2023
University of Naples Federico II
2022
Zadig (Italy)
2017
Laboratory of Molecular Genetics
2016
Concern about both safety and efficacy has made the use of whole-cell pertussis vaccines controversial. In some European countries, including Italy, rate vaccination against is low.
Most genes associated with neurodevelopmental disorders (NDDs) were identified an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 16,294 NDD cases and additional 62 6,211 cases. By combining these published data, assess a total 125 over 16,000 compare to nonpsychiatric controls from ExAC. We identify 48 (25 newly reported) showing significant ultra-rare (MAF < 0.01%) gene-disruptive (FDR 5%), six which...
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as model for investigating the molecular mechanisms terminal that are currently poorly understood. We characterized level genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple (72%), ring chromosomes (14%), and unbalanced translocations (7%). also discovered interstitial between 17–74 kb 9% patients. Haploinsufficiency SHANK3 gene,...
Intellectual disability (ID) is a common neurodevelopmental disorder affecting 1-3% of the general population. Mutations in more than 10% all human genes are considered to be involved this disorder, although majority these still unknown.We investigated 19 small non-consanguineous families with two five affected siblings order identify pathogenic gene variants known, novel and potential ID candidate genes. Non-consanguineous have been largely ignored identification studies as family size...
Pitt-Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial gestalt and additional features, such as breathing anomalies. Following the discovery of causative haploinsufficiency transcription factor 4 (TCF4), about 60 patients have been reported. We looked for TCF4 mutations in 63 with a suspected PTHS. Haploinsufficiency was identified 14 patients, consequence large 18q21.2 chromosome deletions involving (2 patients), gene (11 patients) t(14q;18q)...
Abstract Chromosome 17p13.3 is a gene rich region that when deleted associated with the well‐known Miller–Dieker syndrome. A recently described duplication syndrome involving this has been intellectual impairment, autism and occasional brain MRI abnormalities. We report 34 additional patients from 21 families to further delineate clinical, neurological, behavioral, imaging findings. found highly diverse phenotype inter‐ intrafamilial variability, especially in cognitive development. The most...
Phelan–McDermid syndrome (22q13.3 deletion syndrome) is a contiguous gene disorder resulting from the of distal long arm chromosome 22. SHANK3 , within minimal critical region, candidate for major neurological features this syndrome. We report clinical and molecular data study nine patients with overlapping interstitial deletions in 22q13 not involving . All these overlap largest, but smallest associated The sizes breakpoints varied considerably among our patients, largest spanning 6.9 Mb...
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 PRPF19, encoding spliceosome subunits neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo missense (including seven recurrent 30 individuals) six PRPF19 variants. Eight dysregulated model substrate....
Abstract Background Nurses are essential for caring patients with inflammatory bowel diseases (IBD)1. Their responsibilities encompass patient education, therapeutic management, and emotional support. However, the competencies of IBD in Italy still need to be studied2. This research assessed Italian Nurses’ fundamental advanced skills, providing a baseline future professional development. Methods cross-sectional study used an online survey developed by multidisciplinary expert panel,...
Summary: The Brazilian Network for HIV Isolation and Characterization was established the surveillance of variability in Brazil. Here, we report characterization strains virus-specific immune responses from 35 clinical samples collected three potential vaccine sites. Three genetic subtypes HIV-1 were identified by heteroduplex mobility assay (HMA) B (in 82.9% samples), F (14.3%), C (2.9%). Phylogenetic analysis based on C2V3/env DNA sequence all 25 specimens examined 100% concordant with HMA...
Summary: The Brazilian Network for HIV Isolation and Characterization was established the surveillance of variability in Brazil. Here, we report characterization strains virus-specific immune responses from 35 clinical samples collected three potential vaccine sites. Three genetic subtypes HIV-1 were identified by heteroduplex mobility assay (HMA) B (in 82.9% samples), F (14.3%), C (2.9%). Phylogenetic analysis based on C2V3/env DNA sequence all 25 specimens examined 100% concordant with HMA...
We analyzed peripheral blood mononuclear cells from 19 asymptomatic seropositive pregnant women the district of Gulu in northern Uganda. A 700-bp fragment human immunodeficiency virus type 1 (HIV-1) env gene, including V3-V5 region, was successfully amplified by PCR 10 samples (52.6%) and subsequently subjected to both a heteroduplex mobility assay for genetic screening subtyping DNA sequence analysis (approximately 300 bp) nucleotide comparison phylogenetic studies. The results show...
Objectives Prader-Willi syndrome (PWS) significantly impacts health-related quality of life; however, its relational and existential aspects remain unknown in Italian clinical social debate. The project aimed to investigate the impact PWS on illness experience through narrative medicine (NM) understand daily life, needs resources patients with their caregivers, furnish insights for practice. Design setting involved 10 medical centres Network Rare Diseases family associations targeted...
Abstract The 3q29 microdeletion syndrome is a rare, recurrent genomic disorder, associated with variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, autism, bipolar depression and mild facial morphological anomalies/congenital malformations. A thorough neuropsychiatric evaluation has never been reported patients syndrome. We analyzed clinical phenotype of four individuals syndrome, special emphasis...
Abstract Background Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, behavioural intellectual disorders. Rare disease patient registries are important scientific tools (1) to collect clinical epidemiologic data, (2) assess the management including diagnostic delay, (3) improve patients’ care (4) foster research identify new therapeutic solutions. The European Union has recommended implementation...