2024
Overview
Inherited conditions are disorders or traits passed from parents to offspring through their genes. They arise from variations or mutations in DNA and may follow several patterns of inheritance, including those caused by changes in a single gene, those involving multiple genes, and those resulting from chromosomal abnormalities. Such conditions can affect virtually any part of the body and range widely in severity, from subtle traits to serious diseases present from birth or developing later in life. Understanding the genetic basis of inherited conditions supports accurate diagnosis, genetic counseling, prediction of recurrence within families, and, increasingly, the development of targeted therapies. Research relevant to this topic includes a trio study, examining an affected individual together with both parents, that identified a novel gene mutation in LAMB3 causing junctional epidermolysis bullosa, an inherited skin disorder of intermediate to severe presentation. Studies of this kind illustrate how genetic analysis of families can pinpoint the specific molecular cause of a hereditary disease, clarifying its inheritance and informing diagnosis. This page gathers peer-reviewed, open-access research relevant to hereditary diseases and the genetic mechanisms underlying inherited conditions.
Research published in this journal
1 peer-reviewed article, ranked by relevance. Each links to its DOI.