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Tag: News

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Azlheimer’s disease linked to HIV-like biochemical reactions involving APP gene

Posted on December 9, 2018December 9, 2018

In opposition to a view of constant genome shaping human brain, specific biochemical changes on a level of individual neurons may play an essential role…

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  • Cancer diseases
  • Research discoveries

Novel method for detection of cancer driver mutations

Posted on December 8, 2018December 8, 2018

A new method of cancer genome analysis have led to identification of rare mutations contributing to cancer development. The main challenge of cancer genomics is…

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  • Mendelian diseases
  • Research discoveries

New Mendelian disorder caused by mutations in PIK3C2A gene

Posted on December 8, 2018December 8, 2018

Children with multiple-system abnormalities have been found to have improper phosphatidylinositol because of PIK3C2A mutations. Three unrelated families had five individuals with symptoms: skeletal and…

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  • Machine learning in genomics

Contest “Critical Assessment of Structure Prediction” won by DeepMind’s AlphaFold

Posted on December 7, 2018December 10, 2018

Global experimental contest of protein folding calculations has been won by the machine learning newcomer – AlphaFold from DeepMind startup. Prediction of protein folding always…

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  • Research discoveries
  • Risk of diseases

Two variants associated with the risk of pulmonary arterial hypertension

Posted on December 7, 2018

Variants near SOX17 gene and HLA-DPA1/DPB1 have been found to have been found in genomes of individuals with pulmonary arterial hypertension. 2085 patients involved in…

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  • Genomics sector

Genomics England sequenced 100,000 genomes in five years

Posted on December 6, 2018

The UK’s initiative to sequence 100 thousand genomes reached its goal after operating for five years and five months. Whole-genome sequencing was offered to patients…

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  • Gene therapies

Novel system for brain therapy

Posted on December 6, 2018

Protist parasite Toxoplasma gondii has been engineered to deliver proteins and potentially genetic therapy compounds to specific cells in the brain. The barrier between brain…

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  • Gene therapies

Insertion of fetal hemoglobin gene reduces symptoms of sickle cell disease

Posted on December 5, 2018

Two patients receiving gene therapy have reported significant improvement in the quality of life. A pilot phase of a clinical trial that started one and…

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  • Research discoveries
  • Risk of diseases

Deregulation of FKBP5 gene rises the risk of cardiovascular diseases

Posted on December 4, 2018December 4, 2018

Normally repressed FKBP5 gene was found to be activated in individuals with cardiovascular and immune diseases. The study involved 3131 individuals and assessed “epigenetic derepression”…

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  • Mendelian diseases
  • Research discoveries

Novel mutations in PRPF31 gene cause retinitis pigmentosa

Posted on December 3, 2018December 5, 2018

A mechanism of novel mutation in genetic disease retinitis pigmentosa have been determined using combined bioinformatic and clinical methods. Change in PRPF31 gene at position…

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Recent Posts

  • The first successful gene drive in mammals – mice with Tyr gene January 31, 2019
  • Plant genome: new insights into methylation mechanisms January 28, 2019
  • UBE3A plays an important role in anti-viral immunity in the brain January 27, 2019
  • Details of novel rare USP7-associated neurodevelopmental disorder January 26, 2019

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