New Chapter: 5.1 – The Adult Patient with Hereditary Metabolic Disease

• April 4th, 2011

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 greater detail the management of these patients across a variety of factors. Click here to read the abstract. 

The human disease network

• July 20th, 2007

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 Acad Sci U S A. 2007 May 22;104(21):8685-90

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Click this link to see the most recent online abstracts of major genetics.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Human Variome Project

• July 8th, 2007

To get updated news on the Human Variome Project, please visit this site:

http://www.variome.org/?p=News

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Testing for IEMs by NMR

• March 22nd, 2007

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 future, we will be performing part of the screening for inborn errors of metabolism by nuclear magnetic resonance (NMR). In this article, the authors used NMR and desorption electrospray ionization mass spectrometry to succesfully identify abnormal concentrations of metabolites in samples from patients with samples from individual patients with argininosuccinic aciduria, classic homocystinuria, classic methylmalonic acidemia, maple syrup urine disease, phenylketonuria and tyrosinemia type II.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

iHOP – A gene network for navigating the literature

• December 28th, 2006

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 scientific literature research. “.

Find out more at http://www.ihop-net.org/UniPub/iHOP/

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Historical perspectives in genetics

• December 28th, 2006

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 10: 0195159306
336 pages, 2004 

The Journal of the History of Medicine and Allied Ressources 

OMMBID Chapter 3 : The Inborn Error and Biochemical Individuality
Authors: Barton Childs, David Valle, Gerardo Jimenez-Sanchez

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Drugs for rare conditions

• December 25th, 2006

J Intern Med. 2006 Jul;260(1):1-10.

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.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Metabolism and Metabolic Disease Resources on the Web

• December 20th, 2006

This chapter of OMMBID, by David S. Wishart, is definitely worth a read and a few clicks!

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Liver transplantation for inborn errors of metabolism

• October 23rd, 2006

This articles provides an overview and discussion on an important area of the treatment of inborn errors of metabolism.
Transplantation. 2005 Sep 27;80(1 Suppl):S135-7.

Liver transplantation for inborn errors of metabolism.

Meyburg J, Hoffmann GF.

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

• August 13th, 2006

Am. J. Hum. Genet., 79:000, 2006

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening
Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, and Robert J. Desnick
In this article, alpha-galactosidase A activity was assayed in newborn screening blood spots of Italian male neonates. This study revealed a high incidence of later-onset Fabry disease.

For more information on Fabry disease, see chapter 150 of OMMBID.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator