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Genomic Technologies (genomic + technology)
Selected AbstractsImpact of genomic technologies on regulatory policies,Presentations at the 37th annual meeting of the Environmental Mutagen Society,ENVIRONMENTAL AND MOLECULAR MUTAGENESIS, Issue 5 2007Kerry L. Dearfield No abstract is available for this article. [source] Assessing human germ-cell mutagenesis in the Postgenome Era: A celebration of the legacy of William Lawson (Bill) Russell,ENVIRONMENTAL AND MOLECULAR MUTAGENESIS, Issue 2 2007Andrew J. Wyrobek Abstract Birth defects, de novo genetic diseases, and chromosomal abnormality syndromes occur in ,5% of all live births, and affected children suffer from a broad range of lifelong health consequences. Despite the social and medical impact of these defects, and the 8 decades of research in animal systems that have identified numerous germ-cell mutagens, no human germ-cell mutagen has been confirmed to date. There is now a growing consensus that the inability to detect human germ-cell mutagens is due to technological limitations in the detection of random mutations rather than biological differences between animal and human susceptibility. A multidisciplinary workshop responding to this challenge convened at The Jackson Laboratory in Bar Harbor, Maine. The purpose of the workshop was to assess the applicability of an emerging repertoire of genomic technologies to studies of human germ-cell mutagenesis. Workshop participants recommended large-scale human germ-cell mutation studies be conducted using samples from donors with high-dose exposures, such as cancer survivors. Within this high-risk cohort, parents and children could be evaluated for heritable changes in (a) DNA sequence and chromosomal structure, (b) repeat sequences and minisatellites, and (c) global gene expression profiles and pathways. Participants also advocated the establishment of a bio-bank of human tissue samples from donors with well-characterized exposure, including medical and reproductive histories. This mutational resource could support large-scale, multiple-endpoint studies. Additional studies could involve the examination of transgenerational effects associated with changes in imprinting and methylation patterns, nucleotide repeats, and mitochondrial DNA mutations. The further development of animal models and the integration of these with human studies are necessary to provide molecular insights into the mechanisms of germ-cell mutations and to identify prevention strategies. Furthermore, scientific specialty groups should be convened to review and prioritize the evidence for germ-cell mutagenicity from common environmental, occupational, medical, and lifestyle exposures. Workshop attendees agreed on the need for a full-scale assault to address key fundamental questions in human germ-cell environmental mutagenesis. These include, but are not limited to, the following: Do human germ-cell mutagens exist? What are the risks to future generations? Are some parents at higher risk than others for acquiring and transmitting germ-cell mutations? Obtaining answers to these, and other critical questions, will require strong support from relevant funding agencies, in addition to the engagement of scientists outside the fields of genomics and germ-cell mutagenesis. Environ. Mol. Mutagen., 2007. Published 2007 Wiley-Liss, Inc. [source] Molecular imaging: The application of small animal positron emission tomographyJOURNAL OF CELLULAR BIOCHEMISTRY, Issue S39 2002Douglas J. Rowland Abstract The extraordinary advances in genomic technologies over the last decade have led to the establishment of new animal models of disease. The use of molecular imaging techniques to examine these models, preferably with non-destructive imaging procedures, such as those offered by positron emission tomography (PET), are especially valuable for the timely advancement of research. With the use of small animal PET imaging it is possible to follow individual subjects of a sample population over an extended time period by using highly specific molecular probes and radiopharmaceuticals. In this Prospect small animal PET imaging will be described, specifically focusing on the current technologies, its applications in molecular imaging and the logistics of performing small animal PET. J. Cell. Biochem. Suppl. 39: 110,115, 2002. © 2002 Wiley-Liss, Inc. [source] Co-ordination of osmotic stress responses through osmosensing and signal transduction events in fishesJOURNAL OF FISH BIOLOGY, Issue 8 2010T. G. Evans This review centres upon the molecular regulation of osmotic stress responses in fishes, focusing on how osmosensing and signal transduction events co-ordinate changes in the activity and abundance of effector proteins during osmotic stress and how these events integrate into osmotic stress responses of varying magnitude. The concluding sections discuss the relevance of osmosensory signal transduction to the evolution of euryhalinity and present experimental approaches that may best stimulate future research. Iterating the importance of osmosensing and signal transduction during fish osmoregulation may be pertinent amidst the increased use of genomic technologies that typically focus solely on changes in the abundances of gene products, and may limit insight into critical upstream events that occur mainly through post-translational mechanisms. [source] Marine systems: moving into the genomics eraMARINE ECOLOGY, Issue 1 2005Karen Wilson Abstract The study of biological systems has been revolutionized by the use of genomic technologies. Most of the knowledge gathered over the last few years refers to terrestrial models. The study of marine systems using genomic technologies has, apart from a focus on microbial systems, been generally neglected although there are signs that this situation may be changing. This review analyses recent progress made in the field of marine genomics and identifies the broad areas in which this new technology is having the greatest impacts. These studies include comparative, functional and environmental genomics of metazoan animals. In many cases, as well as benefiting marine science, studies on marine taxa are having wide-ranging impacts on our global understanding of genomes and genomics. [source] Uniparental disomy and human disease: An overview,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2010Kazuki Yamazawa Abstract Uniparental disomy (UPD) refers to the situation in which both homologues of a chromosomal region/segment have originated from only one parent. This can involve the entire chromosome or only a small segment. As a consequence of UPD, or uniparental duplication/deficiency of part of a chromosome, there are two types of developmental risk: aberrant dosage of genes regulated by genomic imprinting and homozygosity of a recessive mutation. UPD models generated by reciprocal and Robertsonian translocation heterozygote intercrosses have been a powerful tool to investigate genomic imprinting in mice, whereas novel UPD patients such as those with cystic fibrosis and Prader,Willi syndrome, triggered the clarification of recessive diseases and genomic imprinting disorders in human. Newly developed genomic technologies as well as conventional microsatellite marker methods have been contributing to the functional and mechanistic investigation of UPD, leading to not only the acquisition of clinically valuable information, but also the further clarification of diverse genetic processes and disease pathogenesis. © 2010 Wiley-Liss, Inc. [source] Autism genetics: strategies, challenges, and opportunitiesAUTISM RESEARCH, Issue 1 2008Brian J. O'Roak Abstract Although genes have long been appreciated to play a critical role in determining the risk for pervasive developmental disorders, the specific transcripts contributing to autism spectrum disorders (ASD) have been quite difficult to characterize. However, recent findings are now providing the first insights into the molecular mechanisms underlying these syndromes and have begun to shed light on the allelic architecture of ASD. In this article, we address what is known about the relative contributions of various types of genetic variation to ASD, consider the obstacles facing gene discovery in this complex disorder, and evaluate the common methodologies employed to address these issues, including linkage, molecular and array-based cytogenetics, and association strategies. We review the current literature, highlighting recent findings implicating both rare mutations and common genetic polymorphisms in the etiology of autism. Finally, we describe key advances in genomic technologies that are transforming all areas of human genetics and consider both the opportunities and challenges for autism research posed by these rapid changes. [source] 2242: Update on ophthalmic molecular geneticsACTA OPHTHALMOLOGICA, Issue 2010E DE BAERE Purpose To provide an overview of the recent technological advances in human molecular genetics that can be applied in ophthalmic genetics. Methods Since the finalization of the Human Genome Project many novel genomic technologies emerged that led to significant advances in gene identification and genetic testing of hereditary eye disorders: (1) genomewide copy number screening (array CGH); (2) genomewide SNP genotyping; (3) next-generation sequencing. Results (1) Microarray comparative genomic hybridisation or array CGH allows genomewide discovery of submicroscopic deletions and duplications in a single experiment. This technique is applied in routine molecular cytogenetic testing. Using array CGH a causal genomic defect can be found in at least 10% of all cases with mental retardation and/or multiple congenital anomalies. In ophthalmic genetics array CGH is mainly useful in the context of developmental eye disorders, with chorioretinal coloboma and anterior segment dysgenesis as an example. (2) Genomewide chip-based SNP genotyping can be used for homozygosity mapping in inbred and outbred pedigrees. Recent successes in gene identification using this approach are illustrated. (3) Next-generation sequencing or NGS. The application of this technology in gene identification and genetic testing of genetically heterogeneous conditions (with LCA as a paradigm) is discussed. Conclusion The rapid progress of genomic technologies such as array CGH, SNP chip analysis and next-generation sequencing lead to a boost in gene identification and genetic testing of both developmental and retinal eye disease. [source] | |||||||||||||