Special Issue

Treatment of Genetic Disease

Submission Deadline: June 30, 2018 (Closed)

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.

Manuscript Submission Information

Manuscripts should be submitted through the LIDSEN Submission System. Detailed information on manuscript preparation and submission is available in the Instructions for Authors. All submitted articles will be thoroughly refereed through a single-blind peer-review process and will be processed following the Editorial Process and Quality Control policy. Upon acceptance, the article will be immediately published in a regular issue of the journal and will be listed together on the special issue website, with a label that the article belongs to the Special Issue. LIDSEN distributes articles under the Creative Commons Attribution (CC BY 4.0) License in an open-access model. The authors own the copyright to the article, and the article can be free to access, distribute, and reuse provided that the original work is correctly cited.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). Research articles and review articles are highly invited. Authors are encouraged to send the tentative title and abstract of the planned paper to the Editorial Office (genetics@lidsen.com) for record. If you have any questions, please do not hesitate to contact the Editorial Office.

Welcome your submission!

Publication

Open Access Review Diagnosis and Treatment of Mitochondrial Abnormalities in Reproductive Medicine by Joep Geraedts 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 exclusively inherited from the mother. Dysfuncti [...]

Open Access Review Therapies for Childhood Polycystic Kidney Disease by William E Sweeney  , Ameya Patil  and Ellis D. Avner 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 fibrosis (ARPKD/CHF, MIM *606702) and autosomal [...]

Open Access Review Prospects for Cure in Wilson Disease by Michelle A. Camarata  , Uyen To  and Michael L. Schilsky 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 liver transplantation, however, lifelong monit [...]

Open Access Review Experimental DNA- or RNA-Directed Therapies for Trinucleotide Repeat Disease by Inês Lopes Cardoso 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 repeats can lead to gradual expansion throug [...]

Open Access Editorial Special Issue: Treatment of Genetic Disease by Khue Vu Nguyen 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 including the diagnosis, counseling, treatment and [...]