Scientists compile first 'molecular manual' for 100s of inherited diseases

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Washington, Dec 18 (ANI): For the first time, researchers at the Technical University of Denmark and Massachusetts General Hospital (MGH) have compiled a catalogue of tissue-specific pathologies behind hundreds of inherited diseases.

The 'molecular manual' provides information that may help treat conditions such as breast cancer, Parkinson's disease, heart disease and autism.

"Disease processes in humans are far from being exhaustively understood and characterized, in part because they are the result of complex interactions between many molecules that may take place only in specific tissues or organs. Experiments to directly study these interactions in human patients would not be possible, which limits our understanding of how diseases arise and which molecules and genes are involved," said co-lead author Kasper Lage, PhD, of the MGH Pediatric Surgical Research Laboratories.

Co-lead author Niclas Tue Hansen, MSc, from the Center for Biological Sequence Analysis, Technical University of Denmark, added: "We let supercomputers model biological processes in tissues across the human organism, based on the knowledge from millions of already published articles. In this way we were able to create an extensive map of the interactions of molecules in many diseases - a sort of molecular manual - without carrying out experiments in patients."

He said that the catalogue is expected to help physicians and researchers investigating many serious disorders.

"It has been extremely exciting to integrate the disease expertise of researchers at MGH and Harvard Medical School with the work of leading systems biologists at the Technical University of Denmark," said Patricia Donahoe, MD, director of Pediatric Surgery Research at MGH and co-corresponding author of the PNAS study.

She added: "This current study brought together the strengths of both teams and resulted in a unique way of analyzing inherited diseases. Our findings have the potential to advance the knowledge of pathways, genes and proteins involved in hundreds of human disorders and perhaps contribute to better treatment strategies for some of these serious diseases."

Te catalogue is freely available on the Center for Biological Sequence Analysis web page (, and will appear in the Proceedings of the National Academy of Sciences. (ANI)

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