Genome Canada International Conference

• August 19th, 2006

Genome Canada is holding an Intenational Conference entitled:

2020 Vision: Variation and Function in the Genome

October 25th to 27th in beautiful Château Fronenac, in Québec city, Canada.

Here is the conference program.

Philippe Campeau

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.
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

Diagnosing inborn errors of lipid metabolism with proton NMR spectroscopy

• August 8th, 2006

In this publication, NMR is used to diagnose or follow patients with 4 different inborn errors of lipid metabolism:
Smith-Lemli-Opitz syndrome
Cerebrotendinous Xanthomatosis
Sitosterolemia
Refsum disease
This technique might have a widespread clinical use in the future, given its advantages (authetic standards often unnecessary, almost unequivocal lipid identification, and easy sample preparation).

Clin Chem. 2006 Jul;52(7):1395-405. Epub 2006 May 18.

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic
resonance spectroscopy.

Oostendorp M, Engelke UF, Willemsen MA, Wevers RA.
For more information on inherited disorders of lipid metabolism, see part 12 of OMMBID.

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

Wagner syndrome

• August 1st, 2006

Wagner syndrome (hyaloideoretinal degeneration of Wagner) is an autosomal dominant vitreoretinopathy. It manifests at childhood or adolescence and is progressive. In the original Swiss kindred, most patients had an “empty” vitreous cavity with avascular strands or veils. The molecular cause for this condition in the original kindred was recently identified:

Mol Vis. 2006 Apr 17;12:350-5.
Identification of the genetic defect in the original Wagner syndrome family.
Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W.

For more information on inherited disorders of the eye, see part 29 of OMMBID.

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