OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.

Indexing: DOAJ-Directory of Open Access Journals.

Archiving: full-text archived in CLOCKSS.

Rapid publication: manuscripts are undertaken in 8.5 days from acceptance to publication (median values for papers published in this journal in the first half of 2019, 1-2 days of FREE language polishing time is also included in this period).

Current Issue: 2020  Archive: 2019 2018 2017

Special Issue

Treatment of Genetic Disease

Submission Deadline: June 30, 2018 (Open) Submit Now

Guest Editor

Khue Vu Nguyen, PhD, DSc

Full Project Scientist, Departments of Medicine and Pediatrics, University of California of San Diego, San Diego, USA

E-Mail

Research Interests: molecular biology; genetic diseases; enzymology; biosensors; biopolymers; neurodevelopmental and neurodegenerative disorders; cancer

About This Topic

It is with great pleasure to introduce a special issue, namely “Treatment of Genetic Disease”, which is scheduled to appear this year in OBM Genetics. I cordially invite authors to contribute their excellent works to this exciting forum. Submissions are now open and will be fully considered for publication.

Genes are the building blocks of heredity. They are passed from parent to child. A genetic disease occurs when a person has one or more abnormal genes, missing genes, extra genes, inactivated genes, or overly active genes that lead to a medical condition. With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic diseases are a major cause of disability, death, and human tragedy. Recent findings, however, show a role of epigenetic modifications, gene-gene and/or gene-environment interactions in the disease etiology. As such, in this special issue of OBM Genetics, I have selected topics that highlight the current progress in diagnostics and treatment of genetic diseases including gene, stem cell, epigenetic therapies, and discussed about future directions in the field aimed toward innovative therapies using RNA-based therapeutic or RNA as therapeutic target. To this end, specific mRNA in cells and tissues appears as an ideal target for therapeutic intervention and antisense drugs are potential treatment.

Publication

Open Access Review

Diagnosis and Treatment of Mitochondrial Abnormalities in Reproductive Medicine

Received: 08 April 2019;  Published: 14 August 2019;  doi: 10.21926/obm.genet.1903089

Abstract

Mitochondrial diseases represent the most common inborn errors of metabolism. The overwhelming majority of mitochondrial diseases (about 85 %) are caused by mutations of nuclear genes of oxidative phosphorylation. The remaining 15 % are caused by mtDNA mutations. The familial mtDNA mutations are exc [...]
Open Access Review

Therapies for Childhood Polycystic Kidney Disease

Received: 07 August 2018;  Published: 23 December 2018;  doi: 10.21926/obm.genet.1804056

Abstract

Renal cysts are present in a wide variety of hereditary renal diseases in children. The term polycystic kidney disease (PKD) refers to two specific hereditary diseases, distinguished by the usual age of onset and genetic cause: autosomal recessive polycystic kidney disease/congenital hepatic fibrosi [...]
Open Access Review

Prospects for Cure in Wilson Disease

Received: 18 July 2018;  Published: 22 August 2018;  doi: 10.21926/obm.genet.1803030

Abstract

Wilson Disease is a monogenetic disorder of copper metabolism affecting the ATP7B gene. Treatment is lifelong and focuses on removal of copper to arrest disease progression and improve the clinical manifestations of copper toxicity. Currently the only cure is replacement of ATP7B in hepatocytes by l [...]
Open Access Review

Experimental DNA- or RNA-Directed Therapies for Trinucleotide Repeat Disease

Received: 17 April 2018;  Published: 27 July 2018;  doi: 10.21926/obm.genet.1803025

Abstract

Dynamic mutations involve expansion of the number of repeat units consisting of three or more nucleotides in tandem (i.e., adjacent to one another), present in a gene or in its neighborhood. Depending on expansion size, unaffected individuals can be carriers of a pre-mutation. Instability of triplet [...]
Open Access Editorial

Special Issue: Treatment of Genetic Disease

Received: 18 January 2018;  Published: 31 January 2018;  doi: 10.21926/obm.genet.1801012

Abstract

With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic and epigenetic regulation in diseases are a major cause of disability, death, and human tragedy. Here, I discuss current knowledge about this matter includi [...]
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