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Tag: Exome Sequencing


Biomarker, Innovation

Newly identified genetic mutation causes rare, early onset inflammatory bowel disease

July 30, 2021

Via: The Medical News

Johns Hopkins Medicine researchers, in collaboration with national and international researchers, have identified a genetic mutation in a small number of children with a rare type of inflammatory bowel disease. The discovery of the mutation, which weakens the activity of […]


Innovation, Med Tech

Quantum cryptographic communications technology can provide safe, secure data transmission in genomic medicine

August 10, 2020

Via: The Medical News

Toshiba Corporation, Tohoku University Tohoku Medical Megabank Organization (ToMMo) and Tohoku University Hospital have demonstrated that quantum cryptographic communications technology can provide genomic medicine with a safe, completely secure data management environment. This was achieved by (1) developing a system […]


Innovation, Research

Researchers identify genetic component involved in development of familial sarcoidosis

May 8, 2019

Via: The Medical News

Working with their colleagues from the University of Lyon, researchers from MedUni Vienna’s Center for Pathobiochemistry and Genetics have discovered mutations in genes that regulate the metabolic sensor mTOR in patients with familial sarcoidosis. The results of this new study […]