Watch our video abstracts based on articles published in Genome Medicine.
Identification of a molecular cause of a developmental disorder
A study by Smits and colleagues has pinpointed specific regions of the DLG2 gene expressed in brain cells that upon deletion appear to be associated with developmental delay and intellectual disability phenotypes. This research improves our understanding of the molecular causes of neurodevelopmental disorders and fundamental knowledge about the DLG2 gene – see the video abstract for a graphic summary of the paper.
Genomic analyses provide insights into the microbiome of patients with early Parkinson's disease
A study by Bedarf, Hildebrand and colleagues reveals marked differences in the microbial composition and viral abundances between early stage, L-DOPA-naïve Parkinson’s disease patients and healthy controls, and highlights functional differences in the microbial metabolism in Parkinson’s patients – see the video abstract for a graphic summary of the paper.
Bridging the gap between discovery and application to diagnose genetic disease
A study by Lupski and colleagues highlights that complementary relationships between research and clinical laboratories can be mutually beneficial, ensure patients receive the best treatment and accelerate the pace of disease-gene discovery – see the video abstract for a graphic summary of the paper.
De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease
A study by Ennis, Snyder and colleagues indicates de novo and rare mutations in HSPA1L are associated with inflammatory bowel disease and also expands our understanding of the roles of HSP70s in human disease – see the video abstract for a graphic summary of the paper.