About PathoGenetics

What is PathoGenetics?

PathoGenetics is a peer-reviewed, online open access journal, which features studies on the pathogenesis of genetic diseases, phenotypes and traits. Such studies may use molecular, biochemical, cellular, and physiological methods, as well as genome-wide approaches, to provide novel insights into the biological mechanisms underlying the phenotypic manifestations of genetic diseases.

PathoGenetics publishes articles on the discovery of the mechanisms of genetic diseases. The journal focuses on both in vitro and in vivo studies on the cascade of events leading from genomic lesions (i.e. either a pathogenic mutation on a gene or another functional genomic element or a genomic rearrangement) to disease phenotypes. The use of animal models of human genetic diseases is considered highly relevant to the journal scope and a special emphasis will be given to the discovery of novel molecular and metabolic pathways that are relevant to disease pathogenesis. The journal includes studies on monogenic and polygenic diseases, and genomic disorders of somatic cells (including cancers). Linkage and association studies as well as mutation analyses will be considered only if they shed light on the biological mechanism underlying disease pathogenesis. Similarly, studies based on the use of novel therapeutic approaches (e.g. new drugs or gene therapy) may be published in the journal if the treatment provides insight into the underlying disease mechanisms.

Studies on disease pathogenesis are currently split between several specialist journals. PathoGenetics was created to meet the needs of the growing scientific community focused on the mechanisms of genetic disease. By covering the entire spectrum of molecular and metabolic pathways that are disturbed in genetic diseases, PathoGenetics provides the ideal platform for scientists from different backgrounds and specialities to publish and read research at the forefront of disease pathogenesis.

Content overview

PathoGenetics considers the following types of articles:

• Research: reports of data from original research. These articles will form the major content of the journal.
• Reviews: comprehensive, authoritative, descriptions of any subject within the scope of the journal.
• Methodology articles: present a new experimental method, test or procedure. The method described may either be completely new, or may offer a better version of an existing method. Methodology articles will only be accepted for publication if they represent a significant advance in the field.
• Meeting reports: short descriptions of a conference that an author has attended, which should focus on the key developments presented and discussed at the meeting. These articles are usually commissioned but reports and suggestions may also be submitted for the editors' consideration.

Peer review policy

Manuscripts are reviewed by internationally recognized experts in the field of genetic diseases and disease pathogenesis, selected in part from our Editorial Board. Reviews will be rapid and the suitability of a manuscript for publication will be assessed solely on criteria of scientific excellence. Final decisions will be made by the Editors-in-Chief.

Edited by Stylianos Antonarakis and Andrea Ballabio, PathoGenetics is supported by an international Editorial Board.

Publishing in PathoGenetics

All articles will be listed in PubMed immediately upon acceptance (after peer review), and will be covered by PubMed Central.

Articles in PathoGenetics should be cited in the same way as articles in a traditional journal. However, because articles in this journal are not printed, they do not have page numbers. Instead, they have a unique article number.

The following citation:

Pathogenetics 2004, 2:1

refers to article 1 from volume 2 of the journal.

As an online journal, PathoGenetics does not have issue numbers. Each volume corresponds to a calendar year.

To keep up to date with the latest articles from PathoGenetics, why not register to receive alerts? Registration also enables you to customise your subject areas of interest, store your searches, and submit your manuscripts.

Submission of manuscripts

Manuscripts should be submitted electronically to PathoGenetics using the online submission system. Full details of how to submit a manuscript are given in the instructions for authors.

General journal policies

PathoGenetics is published  by BioMed Central, an independent publisher committed to ensuring peer-reviewed biomedical research is Open Access. That means it is freely and universally accessible online, it is archived in at least one internationally recognised free access repository, and its authors retain copyright, allowing anyone to reproduce or disseminate articles, according to the BioMed Central copyright and licence agreement. PathoGenetics however, has taken this further by making all its content Open Access.

PathoGenetics's articles are archived in PubMed Central, the US National Library of Medicine's full-text repository of life science literature, and also in repositories at the University of Potsdam in Germany, at INIST in France and in e-Depot, the National Library of the Netherlands' digital archive of all electronic publications. The journal is also participating in the British Library's e-journals pilot project, and plans to deposit copies of all articles with the British Library.

BioMed Central is working closely with the Thomson Reuters (ISI) to ensure that citation analysis of articles published in PathoGenetics will be available.

PathoGenetics is able to deliver summaries of frequently updated content via Really Simple Syndication (RSS) feeds. For more information about RSS feeds see our publisher's website.

For further information about general policies please see the instructions for authors.