Posts Categorized: Part 03: GENERAL THEMES



Inborn errors of metabolism and metabolic networks

Posted by & filed under Part 03: GENERAL THEMES.

As information derived from large scale metabolomic investigations rapidly expands, organization of this data into relevant and interconnected pathways presents a very complex problem. Sahoo et al (Mol Biosyst. 2012 Oct;8(10):2545-58.) presented a very interesting approach to this problem, specifically in interconnecting missing reactions involved in fatty acid oxidation with existing models of the published human metabolic reconstruction. The resultant, […]



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 […]



Evidence of non-random mutation rates suggests an evolutionary risk management strategy

Posted by & filed under Part 03: GENERAL THEMES.

Martincorena et al are reporting in Nature evidence challenging the tenet that mutations occur randomly and then selection governs whether they are fixed or not. By comparing 34 E.coli genomes  and after excluding usual causes of difference in mutation rate (codon usage bias, mRNA-folding stability in the 5´, GC content and within-species homologous recombination)  the authors […]



Metabolomics for IEMs

Posted by & filed under Part 03: GENERAL THEMES.

Clin Chem. 2007 Dec;53(12):2169-76. Epub 2007 Oct 19. Metabolomics identifies perturbations in human disorders of propionate metabolism. Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G. In this publications, the authors use mass-based metabolomics to identify compounds which differ from normal individuals in the plasma of patients with methylmalonic aciduria and propionic aciduria. Not surprinsingly, propionylcarnitine […]



The human disease network

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Tools.

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 03: GENERAL THEMES, Websites.

  The Human Variome Project participants have met in 2006 and have established 96 recommendations for the collection and accessibility of variations in the human genomic DNA.   Nat Genet. 2007 Apr;39(4):433-6. Recommendations of the 2006 Human Variome Project meeting. Cotton RG; participants of the 2006 Human Variome Project meeting; Appelbe W, Auerbach AD, Becker […]



Human Variome Project

Posted by & filed under Part 03: GENERAL THEMES, Websites.

  The Human Variome Project participants have met in 2006 and have established 96 recommendations for the collection and accessibility of variations in the human genomic DNA.   Nat Genet. 2007 Apr;39(4):433-6. Recommendations of the 2006 Human Variome Project meeting. Cotton RG; participants of the 2006 Human Variome Project meeting; Appelbe W, Auerbach AD, Becker […]



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 […]



Drugs for rare conditions

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

J Intern Med. 2006 Jul;260(1):1-10. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. Wastfelt M, Fadeel B, Henter JI.   This article gives interesting insights on the development of orphan drugs for rare disorders. It also contains a list of great websites.   Thank you very much in advance […]