SYK & retinoblastoma – a reminder of the importance of looking beyond mutated genes for therapeutic targets
The tyrosine kinase SYK and retinoblastoma, a rare childhood tumor of retinal cells, provide the latest example of why it’s important to not limit ones attention to only those genes containing associated mutations when seeking treatment methods for a given inherited disease. Previous searches for candidate retinoblastoma genes failed to identify SYK because it is Read More
In silico Analysis of Combinatorial microRNA Activity Reveals Target Genes and Pathways Associated with Breast Cancer Metastasis
Division of Clinical Pharmacology and Toxicology, Department of Pediatrics at Wayne State University School of Medicine recently published a paper that utilized ExPlain to identify central nodes downstream of numerous microRNA target genes. BIOBASE data analysis system was used to identify key nodes in signaling networks downstream of genes targeted by the collective group of Read More
Podcast: Discover the Next Generation Sequencing Pipeline
Watch our 10 minute Podcast on Next Generation Sequencing presented by Dr. Frank Schacherer, COO at BIOBASE. Next Generation Sequencing of human genomes presents us with a challenge in the millions of variants that are identified for each individual. We need to understand which variants contribute to health outcomes, and we need to prioritize and Read More
What can worms tell us about variable consequences of mutation?
A lot of research effort is directed towards identifying disease causing mutations, but have you ever wondered why some mutations have little or variable effect from one individual to another? Even when the mutation would be predicted to impair or completely eliminate gene function? It has long been recognized in model systems such as the Read More
An expanded role for aberrant mRNA processing in human disease
Studies have determined that at least 10% of inherited mutations causing human disease do so by disrupting splice-site consensus sequences. As the body of research surrounding the role of cis-acting elements within exons themselves, called exonic splicing enhancers (ESE) or exonic splicing silencers (ESS) depending on whether they enhance or inhibit splicing respectively, has grown, Read More
Identification of a New Ovarian Cancer Gene
Inherited mutations are believed to be the cause behind more than 10% of ovarian cancers. Work carried out over the past two decades has identified a number of genes that, when mutated, lead to a significantly higher risk of developing the disease as compared to the general population – two such well known genes are Read More
Degradomics is a new field in the OMICS world – A report from the FRIAS conference about Integrative OMICS in Freiburg, Gemany
At this interdisciplinary omics conference results and impact of the omics fields were discussed, including the emergence of a new field, degradomics, which focuses on the identification of cleavage sites. The omics research opens great opportunities for the discovery of new biomarkers for early diagnosis of diseases and identification of new drug targets. In the Read More
Data sharing in the life sciences – Part II
In part I of our series on data sharing, reproduced with permission from Frank Schacherer’s blog, we considered the question of “Who should have access to data? ” and left off with the question of “Who pays for the data?”. Frank writes: “Following the reasoning that biomedical data is a common good, a kind of Read More
BioKnowledge Transfer goes high-throughput, and other product news from BIOBASE
Each quarter we provide a newsletter for our subscribers covering relevant industry updates, new product release information, and other news on our products. In our just released Fall 2011 Newsletter we discussed recent advancements in our BioKnowledge Transfer (BKT) process – which is our method for providing clues to the function of proteins not yet Read More
Data sharing in the life sciences – Part I
What is the best way to create, share and maintain biological databases? This is a question our COO, Frank Schacherer, has blogged about on his own website. Over a series of posts, we’ll reproduce his thoughts here with permission. Frank writes: “If nature has made any one thing less susceptible than all others of exclusive Read More