NIH Program Finds Exome Sequencing Provides Answers for Some Patients with Undiagnosed Diseases

November 30, 2010

As part of the National Institutes of Health's Undiagnosed Diseases Program, researchers had sequenced about 50 exomes from 11 patients and their family members as of last month, as well as full genomes of three individuals. They have so far found disease-causing variants in two patients, and variants likely to be causative in another two.

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Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
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Larson, Karlsson et al., PNAS
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Science
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.
Business
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Funding
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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NIH Program Finds Exome Sequencing Provides Answers for Some Patients with Undiagnosed Diseases

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