Search results for "genomic"
showing 10 items of 1737 documents
The role of the European Society of Human Genetics in delivering genomic education
2021
The European Society of Human Genetics (ESHG) was founded in 1967 as a professional organisation for members working in genetics in clinical practice, research and education. The Society seeks the integration of scientific research and its implementation into clinical practice and the education of specialists and the public in all areas of medical and human genetics. The Society works to do this through many approaches, including educational sessions at the annual conference; training courses in general and specialist areas of genetics; an online resource of educational materials (EuroGEMS); and a mentorship scheme. The ESHG Education Committee is implementing new approaches to expand the r…
The Population Genomics of Anopheles gambiae Species Complex: Progress and Prospects
2021
Anopheles gambiae sensu lato is a species complex containing principal malaria vectors such as An. gambiae sensu stricto, An. coluzzii, and An. arabiensis. Numerous studies have shown dynamic species hybridization among member of this complex makes them an ideal model for studying evolution and speciation as well as for applied vector biology. Applying a population genomics approach to the An. gambiae and An. coluzzii species group has led to a number of important and epidemiologically relevant insights including: (1) organization of genomic divergence into “islands of speciation”; (2) competing models of population origin of An. gambiae and An. Coluzzii; (3) description of asymmetric intro…
Identification of Replicator Mutator models
2006
The complexity of biology literally calls for quantitative tools in order to support and validate biologists intuition and traditional qualitative descriptions. In this paper, the Replicator-Mutator models for Evolutionary Dynamics are validated/invalidated in a worst-case deterministic setting. These models analyze the DNA and RNA evolution or describe the population dynamics of viruses and bacteria. We identify the Fitness and the Replication Probability parameters of a genetic sequences, subject to a set of stringent constraints to have physical meaning and to guarantee positiveness. The conditional central estimate is determined in order to validate/invalidate the model. The effectivene…
Educational strategies on potential prescribers to implement correct use of genomic tests: the Italian experience.
2012
Abstract background Marketing pressures, regulatory policies, clinical guidelines, and consumer’s demand all affect health care providers' knowledge and use of health-related genetic tests sold and/or advertised to consumers. A survey on health care providers’ and consumers’ awareness, perceptions, and use of direct-to-consumer personal genomic tests, conducted in USA in 2008, suggested a strong need for education of health practitioners. A similar survey, administered among Italian general practitioners (GPs), has documented that the 85% of interviewers reported the need for specific training on predictive tests’ prescription. Based on these premises, the Italian Health Ministry has introd…
Possible Editing of Alu Transcripts in Blood Cells of Sporadic Creutzfeldt–Jakob Disease (sCJD)
2011
Editing of RNA molecules gained major interest when coding mRNA was analyzed. A small, noncoding, Alu DNA element transcript that may act as regulatory RNA in cells was examined in this study. Alu DNA element transcription was determined in buffy coat from healthy humans and human sporadic Creutzfeldt-Jakob disease (sCJD) cases. In addition, non-sCJD controls, mostly dementia cases and Alzheimer's disease (AD) cases, were included. The Alu cDNA sequences were aligned to genomic Alu DNA elements by database search. A comparison of best aligned Alu DNA sequences with our RNA/cDNA clones revealed editing by deamination by ADAR (adenosine deaminase acting on RNA) and APOBEC (apolipoprotein B ed…
Chromatin structure influences rate and spectrum of spontaneous mutations in Neurospora crassa
2023
While mutation rates have been extensively studied, variation in mutation rates throughout the genome is poorly understood. To understand patterns of genetic variation, it is important to understand how mutation rates vary. Chromatin modifications may be an important factor in determining variation in mutation rates in eukaryotic genomes. To study variation in mutation rates, we performed a mutation accumulation experiment in the filamentous fungus Neurospora crassa, and sequenced the genomes of the 40 MA lines that had been propagated asexually for approximately 1015 [1003, 1026] mitoses. We detected 1322 mutations in total, and observed that the mutation rate was higher in regions of low …
Transcriptional and Epigenetic Response to Sedentary Behavior and Physical Activity in Children and Adolescents: A Systematic Review.
2022
Background: The links of sedentary behavior and physical activity with health outcomes in children and adolescents is well known. However, the molecular mechanisms involved are poorly understood.We aimed to synthesize the current knowledge of the association of sedentary behavior and physical activity (acute and chronic effects) with gene expression and epigenetic modifications in children and adolescents. Methods: PubMed, Web of Science, and Scopus databases were systematically searched until April 2022. A total of 15 articles were eligible for this review. The risk of bias assessment was performed using the Joanna Briggs Institute Critical Appraisal Tool for Systematic Reviews and/or a mo…
Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana
2013
Pressioni del mercato, politiche regolatorie, linee guida cliniche e domanda dei consumatori, sono tutti fattori che influiscono sulla conoscenza degli erogatori dell’assistenza sanitaria e sull'uso dei test genetici venduti e/o pubblicizzati direttamente ai consumatori. Obiettivo è presentare un innovativo programma pilota di istruzione e formazione sul corretto uso dei test genomici, dedicato ai potenziali prescrittori, nell'ambito di un progetto finanziato dal Centro Nazionale per il Controllo delle Malattie del Ministero della Salute. Un gruppo di esperti, rappresentanti delle sei regioni coinvolte nel progetto, ha definito i contenuti di un corso modulare concepito per essere somminist…
Molecular Determinants of the Response of Tumor Cells to Boswellic Acids
2011
Frankincense (Boswellia serrata, B. carterii) is used as traditional remedy to treat inflammatory diseases. The molecular effects of the active ingredients, the boswellic acids, on the immune system have previously been studied and verified in several clinical studies. Boswellic acids also inhibit cancer cell growth in vitro and in vivo. The molecular basis of the cytotoxicity of boswellic acids is, however, not fully understood as yet. By mRNA-based microarray, COMPARE, and hierarchical cluster analyses, we identified a panel of genes from diverse functional groups, which were significantly associated with sensitivity or resistance of a- or b-boswellic acids, such as transcription factors,…
Methodological advances in the functional profiling of genomic studies
2013
In this thesis we present bioinformatic tools and algorithms for the analysis of genomic data such as those generated by microarray devices or next generation sequencing techniques. Particularly, we develop new approaches to gene set analysis. The described procedures should be useful in practice to tackle complex biological experiments, but hopefully will also be methodologically relevant, as they introduce new ways of conceptualizing genomic functional profiling. Our very flexible approach allows for the inclusion of not just one kind of genomic measurement but many. It makes possible, for instance, to analyze expression measurement and genomic variation data at a time. This multidimensio…