News

  • Jun 2018

    Variation in Progesterone Receptor Gene May Reduce Risk for Premature Birth

    Scientists used data from the 1000 Genomes project to study variations of the progesterone receptor gene and discovered a specific variation found in East Asian populations that appears to reduce the risk of premature birth.

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  • May 2018

    Researchers find epigenetic variations may contribute to unexplained neurodevelopmental disorders

    Researchers confirm, with RNAseq analysis, regions significantly rich in novel epivariations often impact gene expression, comparable to loss-of-function mutations. These epivariations may contribute to the pathogenesis of some patients with unexplained neurodevelopmental and/or other congenital anomalies.

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  • May 2018

    The Link Between Migraine Headaches and the Cold Adapting Variant

    Researchers study the TRPM8 gene and discover that a genetic variant associated with migraines was more common in people living in colder climates.

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  • Apr 2018

    Link to Austism Risk Found in Rare Non-Coding Regions of Paternal Genes

    Researchers found rare inherited structural variants in non-coding regions predispose children to Autism Spectrum Disorder (ASD).

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  • Apr 2018

    Effectiveness of Medicine Determined by Human Mutations

    Study suggests altered drug responses may be due to genetic variations in individuals according to research involving G-protein coupled receptors (GPCRs).

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  • Jan 2018

    Researchers Discover 30 Novel Susceptibility Loci for Schizophrenia

    Most reports of schizophrenia genetic risk have focused on individuals of European ancestry. Leveraging the publicly-available 1000 Genomes Project data, this new study expands upon previous work to include a Chinese cohort in a genome-wide association study that identified 30 new genetic risk loci for schizophrenia. 

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  • Nov 2017

    Common Genetic Variant Found for Multiple Vascular Diseases

    Researchers conducting genome-wide studies identify a variant that regulates activity of endothelin-1 (EDN1), a common factor in several vascular diseases.

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  • Jul 2017

    Natural Resistance to Severe Malaria and Structural Variations

    Scientists use genomic data to identify structural variations in human red blood cells and discover a link for lower risk of severe malaria. 

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  • Jul 2017

    Researchers Identify Signals Linked to Age at Menarche

    Scientists use genome-wide data to study the connection between age at menarche and cancer risk.

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  • Mar 2017

    Novel Gene Variants Identified for Kawasaki disease

    By sequencing the DNA of a family of 6, two of which affected with Kawasaki Disease, researchers found a relationship between TLR6 variants and KD.

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