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  • Online tool helps patients demystify the 'Pandora's box' of genomic sequencing December 11, 2019
    A decision aid developed to support patients undergoing genomic sequencing can reduce the amount of time patients spend speaking with overburdened genetic counselors while helping them were more knowledgeable about the benefits of sequencing, suggests a study from St. Michael's Hospital.
  • Genetic brain disorder fixed in mice using precision epigenome editing December 10, 2019
    Using a targeted gene epigenome editing approach in the developing mouse brain, Johns Hopkins Medicine researchers reversed one gene mutation that leads to the genetic disorder WAGR syndrome, which causes intellectual disability and obesity in people. This specific editing was unique in that it changed the epigenome—how the genes are regulated—without changing the actual genetic […]
  • Modifier gene may explain why some with cystic fibrosis are less prone to infection December 10, 2019
    Cystic fibrosis is caused by an inherited mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Due to this mutation, the CFTR protein doesn't embed in cell membranes to form a channel for chlorine ions the way it should. As a result, mucus-producing cells secrete a thicker-than-normal mucus that can create blockages in the […]
  • Genetic variant largely found in patients of African descent associated with heart failure December 10, 2019
    A genetic variant in the gene transthyretin (TTR)—which is found in about 3 percent of individuals of African ancestry—is a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers at Penn Medicine. The study also revealed that a disease caused by this genetic variant, called hereditary transthyretin […]
  • Geneticists identify small molecules that are potential indicators for disease December 10, 2019
    A critical question in medicine asks how individual variation in DNA can predict variation in health and disease. New research from the Clemson Center for Human Genetics identified hundreds of metabolites that might serve as intermediates to translate variation in the genome to variation in complex traits. Published recently in Genome Research, the findings could one day […]
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