Genomic Analysis of Common Disease

Dear Colleagues,

The ability of NextGen or massive parallel sequencing technology to screen all genes in the human genome for mutations is changing the reductive one disease–one responsible gene paradigm to one of multifactorial (polygenic–environmental) causation. The multiple DNA changes defined by all-gene screening are particularly applicable to common diseases like intellectual disability (autism), diabetes, cardiomyopathy/arrhythmias, connective tissue dysplasias, and many cancers where changes in gene networks lead to spectra of disease. A combined genomic analysis of microarray and whole exome sequencing can define the respective duplication/deficiency of chromosome regions (copy number variants) and of gene sequence alterations (DNA sequence variants), the former being common in patients with intellectual disability (autism), and the latter being common in diseases affecting older children and adults. This Special Issue will begin with a brief introduction of genomics and an article contrasting its results when applied to patients with increased joint laxity (hypermobility). Patients with developmental disability and joint laxity from hypotonia of surrounding muscles will have a mixture of copy number and sequence variants, and those with laxity from dysplastic connective tissue in Ehlers–Danlos syndrome will have sequence variants in a different but overlapping network of genes. Accompanying articles that describe DNA results from genomic analysis of other common conditions ranging from cardiovascular diseases to cancer will be explored as well.

Dr. Golder N. Wilson
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Current Issues in Molecular Biology is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.