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Hidden genetic defects contain real risks for serious diseases

Scienmag

Genome test for consanguineous couples makes sense For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the “hidden genetic defects” of the general European population.

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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Giving participants something in return. Navigating the right not to know.

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Sophia Genetics launches AI tool to find COVID-19 ‘unknowns’

pharmaphorum

Swiss medical data specialist Sophia Genetics has launched a platform that will sift through data generated at more than 1,000 hospitals around the world to try to work out how the COVID-19 pandemic will evolve in the coming months and years. The evolution of the disease must be predicted in order to create containment measures,” he added. “We

Genetics 136
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Nucleome raises £37.5m to shine light on ‘dark genome’

pharmaphorum

million ($40 million) first-round financing that will be used to explore so-called ‘dark’ regions of the human genome. Nucleome’s platform adds 3D genomic information to a wealth of available genomic data, uncovering a new dimension of information that is disease as well as cell type-specific.

Genome 59
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New CRISPR-ready neurons could democratise genomics

Drug Discovery World

CRISPR-Ready ioGlutamatergic Neurons are first-in-class stem-cell derived human neurons containing a constitutively-expressed Cas9 nuclease for gene knockouts and CRISPR screens. With ioCRISPR-Ready Cells, we’re putting the future of genomics in the hands of every scientist.

Genome 52
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FDA Makes Low-Risk Determination for Marketing of Products from Genome-Edited Beef Cattle After Safety Review

The Pharma Data

Decision Regarding Slick-Haired Cattle is Agency’s First Enforcement Discretion Decision for an Intentional Genomic Alteration in an Animal for Food Use. The IGA results in the equivalent genotype (genetic make-up) and short-hair coat trait seen in some conventionally bred cattle, known as a “slick” coat. Today, the U.S.

Genome 52
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The structure of DNA is found to be actively involved in genome regulation

Scienmag

The two meters of -stretched- DNA contained in human cells are continuously twisting and untwisting to give access to genetic information: when a gene is expressed to generate a protein, the two strands of DNA are separated to give access to all the machinery necessary for this expression, resulting in an excessive accumulation of coiling […]. (..)

DNA 62