Researchers Report on Use of Whole-Genome Sequencing to Help Diagnose, Treat Rare Disease

June 15, 2011

By sequencing the genomes of a pair of non-identical twins with a movement disorder known as dopa-responsive dystonia, a Baylor College of Medicine-led team found mutations in a related gene that led to improved treatment for their condition.

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Erin Carlson

Assistant Professor
Indiana University

Bacterial Pathogenesis

The Carlson lab researches the development and application of advanced chemical biology and systems biology technologies to both define the mechanisms of bacterial pathogenesis and identify potential therapeutic agents. They are pursuing the development of technologies for natural product discovery including innovative methods for compound isolation, screening, and diversification. In addition, they are also utilizing state of the art metabolomic and proteomic methods to map the biochemical pathways associated with bacterial pathogenesis and antibiotic resistance.
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Papers of Note

Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.

Genetic Data for Modern Genetic Breeds 'Have Yet to Shed Light on Dog Origins'
Larson, Karlsson et al., PNAS
A team led by researchers at the University of Durham investigate the value of modern genetic data to elucidate the origins of dog domestication by analyzing 49,024 autosomal SNPs in 19 wolves and 1,375 dogs, representing 35 breeds. The team reports having uncovered conflicting evidence when correlating the earliest archeological dogs with the geographic locations of 14 breeds thought to be ancient. "These genetically distinct ancient breeds only appear so because of their relative isolation, suggesting that studies of modern breeds have yet to shed light on dog origins," the authors write.
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IntegenX has appointed David Smith to serve as its new COO. Smith most recently served as CFO of Thoratec, and previous to that was CFO at Chiron. He currently is chair of the audit committee and a director of OncoGenex Pharmaceuticals and previously was chair of the audit committee and a director of Perlegen Sciences.

Vermillion said this week that President and CEO Gail Page will be leaving the company by September and the firm has begun the process to find her successor. Page also has resigned her seat on the board of directors, and effective immediately Vermillion amended its bylaws to eliminate the vacant seat, reducing its board from seven to six members.

Genomic Health has appointed Richard Tompane as president of its new subsidiary InVitae, which will focus on developing next-generation-based sequencing diagnostics for genetic diseases. Tompane was previously president and CEO of Gemfire and has also served as an independent consultant.
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A pair of studies, one published in Nature and one published in Nature Genetics, detail the efforts of researchers who used exome sequencing to look into the mutational profiles and pathways that can contribute to prostate cancer. The first group found nine genes with recurrent somatic mutations, six of which had previously been implicated in the disease. The second group demonstrated that recurrent mutations in the ubiquitin ligase-coding gene called SPOP define a non-ETS gene fusion containing prostate cancer subtype.
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Based on expectations of mid-single digit organic revenue growth annually, Thermo Fisher Scientific's revenues for 2016 could fall between $14.5 billion and $15.5 billion, the firm said in a presentation at its analyst meeting. The firm also said that it plans to ramp up its presence in Asia-Pacific and the emerging markets. Last year, about 19 percent of its business came from the APAC and emerging markets. By 2016, it has a goal of increasing that figure to 25 percent with a strategy that seeks to replicate a "successful China/India formula."
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The UK's Biotechnology and Biological Sciences Research Council will invest £19 million ($29.8 million) in the Genome Analysis Center at the Norwich Research Park in the UK as part of a broader, five-year £250 million ($392 million) investment in the biosciences. As part of the larger investment, the Roslin Institute in Scotland will receive £23 million to further its livestock animal genomics research, the Babraham Institute in Cambridge will get £37 million, and the John Innes Centre will receive £42 million.
Genome Technology Magazine
More than a decade ago, fluorescent reporter studies highlighted the stochastic nature of gene expression, and biologists then began to examine the phenotypic heterogeneity they saw in clonal cell populations, through they chalked up what they saw to noisiness in gene expression. Still, researchers wondered about the cause of the randomness they had observed. Now, biophysicists and systems biologists are looking into that question and aim to figure out how and why single cells and molecules behave the way they do, and the consequences of that behavior.

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Researchers Report on Use of Whole-Genome Sequencing to Help Diagnose, Treat Rare Disease

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