Posts By: pcampeau

Exon capture for genome-wide resequencing

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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 […]

WORLD symposium abstracts

Posted by & filed under Meetings, Treatment.

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 Thank you very much in […]

SIMD meeting

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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 Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment). Click this link to see the most recent online abstracts […]

Noninvasive phenylalanine measurement for PKU

Posted by & filed under Part 08: AMINO ACIDS.

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, […]

Liver disease despite treatment in CDG-Ib

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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 […]

Neurotransmitter diseases

Posted by & filed under Part 28: NEUROGENETICS.

  For recent reviews of inherited neurotransmitter diseases, please see these two recent reviews: Molecular Genetics and Metabolism 92 (2007) 189–197 Neurotransmitter diseases and related conditions Campeau PM, Bernard G, Clayton PT J Child Neurol. 2007 May;22(5):606-16. The pediatric neurotransmitter disorders. Pearl PL, Taylor JL, Trzcinski S, Sokohl A. Thank you very much in advance […]

Gene therapy to prevent immune response to enzyme replacement therapy

Posted by & filed under Part 16: LYSOSOMAL DISORDERS, Treatment.

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance Baodong Sun, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y.-T. Chen, and Dwight D. Koeberl Am. J. Hum. Genet., 81:1042-1049, 2007 In this puplication, investigators from Duke University administered an AAV encoding alpha-glucosidase(GAA) to GAA-knockout mice. This prevented the […]

Enzyme replacement therapy in ectodermal dysplasia

Posted by & filed under Part 22: CONNECTIVE TISSUE, Treatment.

Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia Margret L. Casal, John R. Lewis, Elizabeth A. Mauldin, Aubry Tardivel, Karine Ingold, Manuel Favre, Fabrice Paradies,* Ste´phane Demotz, Olivier Gaide, and Pascal Schneider The American Journal of Human Genetics, volume 81 (2007) This paper describes the application of […]

The International Conference on Tetrahydrobiopterin, PKU, and NOS

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The International Conference on Tetrahydrobiopterin, PKU, and NOS Will take place March 23-28, 2008 in St. Moritz – Champfér, Switzerland For more information, visit http://www.pku-bh4.com/index.asp Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment). Click this link to see the most recent online […]

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 28: NEUROGENETICS, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, _.

A group led by Orly Elpeleg has identified a gene associated with pontocerebellar hypoplasia, a heterogenous group of conditions. Deleterious Mutation in the Mitochondrial ArginylTransfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, and Orly Elpeleg The American Journal of […]