Topic: Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease

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A special issue of Journal of Translational Genetics and Genomics.

Deadline for manuscript submissions: 30 Jun 2018

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Guest Editor(s)

  • Prof. Sheng-Ying Qin, PhD
    Bio-X Institutes, Shanghai Jiao Tong University, Shanghai, China.

    Website | E-mail

Special Issue Introduction:

Personalized medicine understands the disease with molecular perspectives, which has brought new classified systems and more effectively preventive and therapeutic interventions. It aims to precisely categorize diseases and their subtypes so that applicable treatments can be improved to a patient's distinctive molecular profile and physiology. Pharmacogenomics plays a critical role in an evolving model of personalized medicine. It is well known that response to medications and side effects is different in every single patient. The inter-individual variability seems to explain these differences which are mainly based on the individual genomic sequence. It possesses the potential that treatment will be tailored to each individual patient in the future. Although genomic testing is still a relatively new development in clinical treatment, this field is expanding. The special issue about Personalized Genomic Medicine focuses on the studies about genetics, genomics, pharmacogenomics etc., which may improve the efficacy and safety of individualized clinical treatment. This special issue welcomes articles in the forms of original research, reviews and evaluations of discoveries about personalized medicine.

Keywords:

Personalized medicine, genomic medicine, precision medicine, pharmacogenomics, targeted therapy, human disease

Submission Information:

Articles of special issue are free of charge for article processing.
For Author Instructions, please refer to http://jtggjournal.com/pages/view/author_instructions
For Online Submission, please login at http://jtggjournal.com/login
Submission Deadline: 30 Jun 2018
Contacts: Ruirui Zhang, Managing Editor, ruirui.zhang@jtggjournal.com

Published Articles Download All Articles
  • Challenges in implementing genomic medicine: the 100,000 Genomes Project

    Julian G. Barwell , Rory B.G. O’Sullivan , Laura K. Mansbridge , Joanna M. Lowry , Huw R. Dorkins
    Many important medical conditions may be the result of an inherited mutation in one of a number of different genes. Technical advances have reduced the cost of whole genome sequencing and whole exome sequencing to a level where it is now feasible to analyse multiple genes in one test. Every human carries several hundred potentially pathogenic coding variants, so a major challenge is to understand which of these is relevant to the patient’s disease. This requires considerable computing power, the use of international unaffected “normal” population and disease cohort databases, clinical... Read more
    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease
    J Transl Genet Genom 2018;2:13. | doi:10.20517/jtgg.2018.17
    Published on: 11 Sep 2018  | Viewed:836  | Downloaded:50
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  • Which came first: validity or clinical testing? The example of long QT genes

    Lacey Boshe , A. Katherine M. Foreman , Jennifer L. Goldstein , Natasha T. Strande , Jonathan S. Berg , Julianne M. O’Daniel
    Aim: To investigate the potential relationship between the strength of evidence for a gene-disease association and inclusion of the gene on a targeted, indication-based gene panel test for hereditary long QT syndrome (LQTS) and to explore factors that may influence laboratory decisions about the inclusion or exclusion of genes from these clinical tests. Methods: A comprehensive literature search was performed to quantify existing evidence supporting putative LQTS gene-disease associations. This evidence included the year that the gene was first implicated in LQTS, the total number of... Read more
    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease
    J Transl Genet Genom 2018;2:12. | doi:10.20517/jtgg.2018.18
    Published on: 30 Aug 2018  | Viewed:180  | Downloaded:12
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  • MERRF and MELAS: current gene therapy trends and approaches

    Ciara Ann Agresti , Penelope Nicole Halkiadakis , Peter Tolias
    The mitochondrion is a unique organelle that predominantly functions to produce useful cellular energy in the form of adenosine triphosphate (ATP). Unlike other non-nuclear eukaryotic organelles (with the exception of chloroplasts), mitochondria have two lipid membranes that enclose their own mitochondrial DNA (mtDNA) and ribosomes for protein production. Similar to nuclear DNA, mtDNA is equally susceptible to mutations that may be classified as either pathogenic or nonpathogenic. Myoclonic Epilepsy with Ragged Red Fibers (MERRF) and Mitochondrial Encephalomyopathy, Lactic Acidosis, and... Read more
    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease
    J Transl Genet Genom 2018;2:9. | doi:10.20517/jtgg.2018.05
    Published on: 3 Jul 2018  | Viewed:973  | Downloaded:64
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  • Detection of leukocyte adhesion deficiency type 1 in an infant by high-throughput targeted exome sequencing

    Sha Hong , Li-Juan Xie , Qing-Nan Yang , Tian-Wen Zhu
    Leukocyte adhesion deficiency type 1 (LAD-I) characterized by immune-deficiency and leukocytosis is rare in infant patients. A 43-day-old boy with severe leukocytosis, recurrent infections, defective wound healing and hepatosplenomegaly associated with an acquired cytomegalovirus infection. To establish the diagnosis definitively, a high-throughput targeted exome sequencing was performed, which yielded the diagnosis of LAD-I. A homozygous mutation in integrin subunit beta 2 (ITGB2), c.817G>A (p.G273R) was identified. Though LAD-I has been thoroughly-studied, with more than 300 detailed... Read more
    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease
    J Transl Genet Genom 2018;2:8. | doi:10.20517/jtgg.2018.06
    Published on: 28 Jun 2018  | Viewed:644  | Downloaded:12
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  • The failure of “engineered rejuvenation”: laboratory genomics do not translate into precision anti-aging therapies

    Marios Kyriazis
    There is a general failure of reductionist and mechanistic approaches to rejuvenation biomedical technologies which aim at providing treatments against aging (defined as “time-dependent dysfunction”). Importantly, it is becoming increasingly recognised that genomic research findings in animals may not adequately be translated into effective human anti-aging therapies. There exist translational impediments, which although individually formidable, can theoretically be overcome. However, the combined effects of these obstacles render this reductionist avenue of quest unattainable, at least for... Read more
    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease
    J Transl Genet Genom 2018;2:7. | doi:10.20517/jtgg.2018.04
    Published on: 15 Jun 2018  | Viewed:784  | Downloaded:27
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Journal of Translational Genetics and Genomics ISSN 2578-5281 (Online)
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