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Throughput Technologies (throughput + technology)

Distribution by Scientific Domains

Medical Sciences	50%

Selected Abstracts

Calorie restriction effects on silencing and recombination at the yeast rDNA

AGING CELL, Issue 6 2009
Daniel L. Smith Jr
Summary Aging research has developed rapidly over the past decade, identifying individual genes and molecular mechanisms of the aging process through the use of model organisms and high throughput technologies. Calorie restriction (CR) is the most widely researched environmental manipulation that extends lifespan. Activation of the NAD+ -dependent protein deacetylase Sir2 (Silent Information Regulator 2) has been proposed to mediate the beneficial effects of CR in the budding yeast Saccharomyces cerevisiae, as well as other organisms. Here, we show that in contrast to previous reports, Sir2 is not stimulated by CR to strengthen silencing of multiple reporter genes in the rDNA of S. cerevisiae. CR does modestly reduce the frequency of rDNA recombination, although in a SIR2 -independent manner. CR-mediated repression of rDNA recombination also does not correlate with the silencing of Pol II-transcribed noncoding RNAs derived from the rDNA intergenic spacer, suggesting that additional silencing-independent pathways function in lifespan regulation. [source]

2243: Update on inherited ocular developmental disease

ACTA OPHTHALMOLOGICA, Issue 2010
GCM BLACK
Purpose To provide an overview of progress in understanding of the genetics of developmental ocular disease. Methods A systematic review, including case presentations, to illustrate insights into genes underlying developmental ocular disorders: Results Studies suggest that, in developed countries, between a third and a half of the diagnoses underlying childhood blind or partial-sighted registration are genetic while a number of other ,non-genetic' conditions also have a substantial genetic contribution. Such a figure is likely to be an underestimate. Although most of these conditions are rare, many of the issues regarding diagnosis and counselling apply to the group as a whole and it is therefore possible to consider a common approach to many aspects of their clinical management. An important challenge, for example, is to improve genetic counselling for patients affected by, and at risk of, disorders that may be caused by a genetic change in one of many possible genes, which typifies many inherited conditions associated with blindness (developmental ocular disorders, early-onset retinal dystrophies, congenital cataract). Most diagnostic genetic testing currently being undertaken focuses on single genes; this will be illustrated for ocular conditions such as retinoblastoma, Norrie disease and microphthalmia. However future prospects will focus upon use of new higher throughput technologies (e.g Microarray technologies). Conclusion The recent identification of genes underlying, for example, anophthalmia/microphthalmia spectrum (e.g. VSX2, SOX2, BCOR), anterior segment dysgenesis (e.g. PITX2, FOXC1, FOXE3) and early,onset retinal disorders (e.g. ADVIRC, RPE65) has shed light on the pathways and processes underlying a range of the biological processes underlying ocular development. [source]

Mathematics in chemical engineering: A 50 year introspection

AICHE JOURNAL, Issue 1 2004
Doraiswami Ramkrishna
Abstract A review is made of the role of mathematics in the field of chemical engineering in the latter half of the twentieth century. The beginning of this era was marked by the concerted effort of a few to raise the mathematical consciousness of the profession to think fundamentally about processes. We have accomplished this review by providing a rough structure of the areas of mathematics, deliberating on how each area has matured through growing applications, to conclude that mathematics is the main medium to meditate not only about processes, but even about materials and products. As we are clearly entering another era where the domain of chemical engineering is expanding into new areas with a focus on discovery oriented high throughput technology, modeling and rapid computation must provide the guidelines for rational interpretation of multitudes of observations. © 2004 American Institute of Chemical Engineers AIChE J, 50: 7,23, 2004 [source]

Genome-wide association studies and the genetic dissection of complex traits,

AMERICAN JOURNAL OF HEMATOLOGY, Issue 8 2009
Paola Sebastiani
The availability of affordable high throughput technology for parallel genotyping has opened the field of genetics to genome-wide association studies (GWAS), and in the last few years hundreds of articles reporting results of GWAS for a variety of heritable traits have been published. What do these results tell us? Although GWAS have discovered a few hundred reproducible associations, this number is underwhelming in relation to the huge amount of data produced, and challenges the conjecture that common variants may be the genetic causes of common diseases. We argue that the massive amount of genetic data that result from these studies remains largely unexplored and unexploited because of the challenge of mining and modeling enormous data sets, the difficulty of using nontraditional computational techniques and the focus of accepted statistical analyses on controlling the false positive rate rather than limiting the false negative rate. In this article, we will review the common approach to analysis of GWAS data and then discuss options to learn more from these data. We will use examples from our ongoing studies of sickle cell anemia and also GWAS in multigenic traits. Am. J. Hematol., 2009. © 2009 Wiley-Liss, Inc. [source]