Posts Categorized: Part 02: PERSPECTIVES

AAV2-related insertional mutagenesis in human hepatocellular carcinomas: implications for gene therapy

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Adeno-associated viral (AAV) vectors have been increasingly used for gene therapy in preclinical and clinical studies. In liver-directed approaches the AAV vectors have emereged as the most promising gene transfer vector in terms of safety and efficacy. A few studies have found increased incidence of hepatocellular carcinomas (HCCs) in mice injected with AAV vectors as […]

Gene editing for HIV therapy

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CCR5 is the major co-receptor for human immunodeficiency virus (HIV). The New England Journal of Medicine recently published the results of a clinical trial investigating the safety of the infusion of autologous CD4 T-cells in which the CCR5 gene was rendered permanently dysfunctional by a zinc-finger nuclease (ZFN). Following infusion of genetically edited cells, the CD4 T-cell count increased significantly […]

Vascularized and functional human liver was generated from transplantation of an iPSC-derived organ bud

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The first demonstrating of a functional human organ (i.e. liver) generated from pluripotent stem cells has been recently reported in Nature. Specified hepatic cells (immature endodermal cells destined to track the hepatic cell fate), endothelial cells and mesenchymal cells self-organized into three-dimensional liver buds in vitro that were transplanted in recipient mice. The vasculature of liver bud transplants became functional […]

A new approach to advance clinical genomics?

Posted by & filed under Exome sequencing, Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Part 06: DIAGNOSTIC APPROACHES, Tools.

It is now feasible to sequence an individual’s whole genome at a relatively low cost. However, for genome sequencing to be implemented clinically, a number of major challenges need to be overcome. I hereby discuss the challenges associated with integrating genomic technologies into clinical practice and describe a novel approach, namely, “Individualized Mutation-weighed On-line Phenotype […]

The human disease network


Combining the efforts of great minds in the field of network science and medical genetics, this paper describes the diseasome, an integrated network of genetic disorders. See figure 13 for a great overview of some allelic conditions. Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabasi AL. The human disease network. Proc Natl […]

Human Variome Project

Posted by & filed under Part 02: PERSPECTIVES, Websites.

To get updated news on the Human Variome Project, please visit this site:   Thank you very much in advance for your contributions to this blog (Click on login to register and post a message). Philippe Campeau, MD Resident in Medical Genetics at McGill University OMMBID Blog Administrator

Testing for IEMs by NMR

Posted by & filed under Part 02: PERSPECTIVES, Part 06: DIAGNOSTIC APPROACHES.

Anal Bioanal Chem. 2007 Jan;387(2):539-49. Epub 2006 Jul 5. Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism. Pan Z, Gu H, Talaty N, Chen H, Shanaiah N, Hainline BE, Cooks RG, Raftery D. This article provides further support to the idea that perhaps, in the […]

iHOP – A gene network for navigating the literature

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Nat Genet. 2004 Jul;36(7):664. A gene network for navigating the literature. Hoffmann R, Valencia A.   This new portal is exponentially popular. According to the developpers, “By using genes and proteins as hyperlinks between sentences and abstracts, the information in PubMed can be converted into one navigable resource, bringing all advantages of the internet to […]

Historical perspectives in genetics

Posted by & filed under Books, Historical perspectives, Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Websites.

For interesting perspectives on the history of genetics, please refer to these websites, books and papers: Electronic Scholarly Publishing, started by Robert J Robbins. Nature Reviews in Genetics series on Historical Profiles and the History of genetic diseases. Landmarks in Medical Genetics Classic Papers with Commentaries Edited by Peter S. Harper ISBN 13: 9780195159301 ISBN […]