Human variome Project

• December 27th, 2007

ASHG 2007
To see the presentations given October 25th at ASHG 2007 (San Diego), go to the HVP website http://www.humanvariomeproject.org/ and click on the link at the bottom of the page.

To see how microattribution of credit could eventually be given in mutation databases, look at this Nature Genetics editorial:
Human Variome Microattribution Reviews

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

Reversion of white matter changes with treatment of HMG-CoA lyase deficiency.

• December 19th, 2007

Pediatr Neurol. 2007 Jul;37(1):47-50.

3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white
matter changes after treatment.

Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA.

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

Mouse model for mucolipidosis II.

• December 8th, 2007

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5221-8.

Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth
retardation, retinal degeneration, and secretory cell lesions.

Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, Rice DS.
In this paper, the authors describe a mouse model for mucolipidosis II. The mice have severe retinal degeneration, in addition to being smaller, having elevated levels of serum lysosomal enzymes, exhibiting cartilage defect and cytoplasmic alterations in secretory cells of several exocrine glands.

 
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

Antioxidants in tyrosinemia type 1

• December 7th, 2007

Chantale Langlois, Rossana Jorquera, Diana Orejuela, Anne Bergeron, Milton J. Finegold, William J. Rhead and Robert M. Tanguay,
Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment,
Molecular Genetics and MetabolismIn Press, Corrected Proof, , Available online 26 November 2007.
(http://www.sciencedirect.com/science/article/B6WNG-4R70K78-2/2/86c9b26444612b49174abacbbe922884)
In this article, the authors describe the administration of antioxidants to a mouse model of tyrosinemia type 1. The treatment prevented neonatal death, but the disease still progressed in the mice. Perhaps antioxidants could be used in the future in conjunction with NTBC, if further experiments in mice show that combination therapy decreases the incidence of hepatocellular carcinoma and hepatic dysplasia.
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 

New OMMBID interface

• December 3rd, 2007

Have a look at the new and improved interface of The Online Metabolic and Molecular Bases of Inherited Diseases.
http://genetics.accessmedicine.com/

Full table of contents

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