Exon capture for genome-wide resequencing

• November 28th, 2007

In this paper, the authors describe a technique to capture human exons on arrays then sequence them by Illumina 1G sequencing. It is hoped that this technique will identify new causes of diseases.
Nat Genet. 2007 Nov 4; [Epub ahead of print]

Genome-wide in situ exon capture for selective resequencing.

Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ,
Albert TJ, Hannon GJ, McCombie WR.
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Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

WORLD symposium abstracts

• November 26th, 2007

The Lysosomal Disease Network’s 2006 WORLD Symposium was held at Disney World in Orlando, Florida (December 7–9, 2006). The 4th Symposium will be held on February 13–15, 2008, at the Venetian Hotel in Las Vegas, Nevada.
www.LysosomalDiseaseNetwork.org.

Abstracts can be found in the December issue of Molecular Genetics and Metabolism

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

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

SIMD meeting

• November 24th, 2007

The SOCIETY FOR INHERITED METABOLIC DISORDERS will hold it’s next meeting in Pacific Grove, California, March 2-5, 2008.

For more information, please see: www.simd.org
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Click this link to see the most recent online abstracts of major genetics journals.

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

Noninvasive phenylalanine measurement for PKU

• November 19th, 2007

This study by Salt Lake City investigators looks at a new noninvasive method to measure phenylalanine, by skin iontophoretic extraction.

J Inherit Metab Dis. 2007 Oct 5; [Epub ahead of print]

Noninvasive measurement of phenylalanine by iontophoretic extraction in patients
with phenylketonuria.

Longo N, Li SK, Yan G, Kochambilli RP, Papangkorn K, Berglund D, Ghanem AH,
Ashurst CL, Ernst SL, Pasquali M, Higuchi WI.
 
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Click this link to see the most recent online abstracts of major genetics journals.

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

Liver disease despite treatment in CDG-Ib

• November 17th, 2007

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib was first described in Québec, Canada.
It is characterized by chronic diarrhea with failure to thrive, protein-losing enteropathy, coagulopathy and occasionnaly hepatic fibrosis.

Mannose therapy improves the general condition and the digestive symptoms of these patients. However, it does not prevent liver fibrosis, as demonstrated in this paper:
Mol Genet Metab. 2007 Oct 16; [Epub ahead of print]

Development of liver disease despite mannose treatment in two patients with
CDG-Ib.

Mention K, Lacaille F, Valayannopoulos V, Romano S, Kuster A, Cretz M, Zaidan H,
Galmiche L, Jaubert F, Keyzer YD, Seta N, Lonlay PD.

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

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