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MalaCards and GeneHancer Open New Directions in Medical Research

New developments in genetic databases will make it easier than ever to identify the molecular basis of disease
11.05.2017

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Weizmann Institute scientists have developed two new databases aimed at advancing personalized medicine. These databases, which combine biological and biomedical information with the use of computational technologies, were created by the team of Prof. Doron Lancet of Weizmann’s Molecular Genetics Department, under the supervision of Marilyn Safran.

MalaCards contains information about some 20,000 human diseases; a report on its updated and upgraded version appeared recently in Nucleic Acid Research. Each web page of the database elaborates on the genes related to a particular disease, including extensive findings from research and clinical practice: symptoms, treatments, genetic tests and results of animal experiments. Because MalaCards incorporates data from more than 60 databases, it is currently one of the most exhaustive resources on human diseases available worldwide. It is the result of five years of research conducted by postdoctoral fellow Dr. Noa Rappaport, Michal Twik and other team members.

 It is currently one of the most exhaustive resources on human diseases available worldwide

MalaCards is integrated with GeneCards, a database of human genes also developed by Lancet’s team. GeneCards has, throughout the past decade, been one of the most popular Internet tools in biomedical research. Together, the two databases provide improved search options for disease-causing genetic mutations, making it even easier for researchers and medical professionals to identify the molecular basis of diseases.

Prof. Doron Lancet

In the Lancet team’s other new project, reported in the journal Database (Oxford), research student Simon Fishilevich and postdoctoral fellows Drs. Dana Cohen and Ron Nudel, along with colleagues, developed GeneHancer, a database that provides the means for innovative analysis of complete human genome DNA sequences. GeneHancer focuses on hundreds of thousands of genomic segments called enhancers, which are dispersed throughout the non-coding portions of the genome. By determining when, where and how strongly a particular gene is expressed, these enhancers exert major control over the genome, but because most enhancers are located far from the affected gene, it is rather difficult to identify them and to define their relationships with genes.

The Weizmann scientists have developed an algorithm that facilitates the identification of enhancers and their target genes. “Until now, research into diseases has focused mainly on classic genes that encode proteins,” says Lancet. “But these make up only about 1.5% of the genome, whereas enhancers account for more than 10%. Now physicians will be able to identify disease-causing mutations that appear not only in the genes themselves, but also in their enhancers. The inclusion of enhancers opens up an entirely new direction in research intended to decipher the genetic basis of various diseases.”

Prof .Doron Lancet is the incumbent of the Ralph D. and Lois R. Silver Professorial Chair of Human Genomics.

 

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