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 […]
Posts Categorized: Part 02: PERSPECTIVES
Gene editing for HIV therapy
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
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?
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 […]
New Chapter: 5.1 – The Adult Patient with Hereditary Metabolic Disease
Adults with inborn errors is a fast growing patient group. Patients presenting in a late age of onset are seen more and more in the pediatric ward, while those diagnosed as children are being cared for by pediatricians well into adulthood. Expanded from a supplemental chapter by Phillip J. Lee, this new chapter discusses in […]
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
To get updated news on the Human Variome Project, please visit this site:  http://www.variome.org/?p=News  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
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
Nat Genet. 2004 Jul;36(7):664. A gene network for navigating the literature. Hoffmann R, Valencia A. Â 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
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 […]