Neurotransmitter diseases

• October 28th, 2007

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.

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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

Join Dr. Charles Scriver at the 57th Annual ASHG Meeting

• October 23rd, 2007

The 57th annual meeting for the American Society of Human Genetics is being held in San Diego, CA, October 24-26, 2007.

While there, visit the McGraw-Hill Booth, #122, and join Dr. Charles Scriver, who will be there on Wednesday, Oct. 24, at 4:30 p.m.

Gene therapy to prevent immune response to enzyme replacement therapy

• October 14th, 2007

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 antibody response to subsequently administered enzyme replacement therapy.

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 of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Enzyme replacement therapy in ectodermal dysplasia

• October 2nd, 2007

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 enzyme replacement therapy for X-linked hypohidrotic ectodermal dysplasia in dogs. Ectodysplasin A fused to the Fc portion of human immunoglobulin G1 was administered to the dogs in th neonatal period. This treatment improved the teeth  weight gain, restored lacrimation, preventing eye infections and keratoconjuctivitis sicca, induced the formation of moderate numbers of functional sweat glands, and significantly improved mucociliary clearance in the respiratory tract that correlated with the marked decrease of pulmonary diseases in the treated dogs.
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 of major genetics journals.

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