Online teaching cases

• June 28th, 2006

www.genetictools.org

This website has a section on genetics concepts & skills, teaching cases which could arise in the primary care practice, and a section on ethical, legal, social, and cultural issues related to genetic testing.

It can thus serve as a good introduction to the field of medical genetics.

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

Treatment strategies for hereditary disorders

• June 23rd, 2006

Nature Reviews Genetics 7, 261-276 (April 2006)
Focus on: Monogenic disorders
Genetic medicines: treatment strategies for hereditary disorders
Timothy P. O’Connor and Ronald G. Crystal
This great review focuses on the barriers to overcome for the effective treatment of monogenic disorders in the years to come.

For more information on the treatment of inherited disorders, please see chapter 5. 
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

ICIEM 2006

• June 18th, 2006

The deadline for advance registration to the 10th International Congress of Inborn Errors of Metabolism, September 2006 in Japan, is june 30th. Please visit: www.iciem2006.org

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

Hepatocyte transplantation for argininosuccinate lyase deficiency

• June 13th, 2006

Sustained engraftment and tissue enzyme activity after liver cell
transplantation for argininosuccinate lyase deficiency.

Stephenne X, Najimi M, Sibille C, Nassogne MC, Smets F, Sokal EM.

Gastroenterology. 2006 Apr;130(4):1317-23.

Hepatocyte transplantation is a promising therapeutic option for various inborn errors of metabolism, as is exemplified by this case report.

For more information on urea cycle defects, please see chapter 85.

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

Gene therapy for GSD-1a

• June 8th, 2006

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.
Koeberl DD, Sun BD, Damodaran TV, Brown T, Millington DS, Benjamin DK, Bird A,
Schneider A, Hillman S, Jackson M, Beaty RM, Chen YT.
Gene Ther. 2006 May 4

This group describes the IV administration of a pseudotyped AAV8 vector for the correction of glycogen storage disease 1a in a mouse model. Partial biochemical correction was sustained up to 7 months after the administration.

For more information on GSD-1a, please see chapter 71.

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

Syndroc

• June 7th, 2006

Syndroc is a searchable online database describing frequent dysmorphic syndromes. It was designed by Daniel F. Schorderet. It can be a useful adjunct to OMIM, Possum, and the  Winter-Baraitser Dysmorphology Database.

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

Mendelian Cytogenetics Network Online Database

• June 2nd, 2006

This fantastic online database collects clinical and cytogenetic data on Disease Associated Balanced Chromosomal Rearrangements. It can be useful in prenatal counselling.
Please visit www.mcndb.org for more information,

Philippe Campeau

RSS feeds

• June 1st, 2006

Really Simple Syndication (RSS) feeds permit those interested in a blog to receive rapid updates on new posts.

For example, when using Mozilla Firefox (www.mozilla.com), drag and drop the orange RSS icon to your links bar; every time you will scroll your mouse over this icon, you will see the most recent posts.

You can also use the Copernic desktop search (www.copernic.com) tollbar for Internet Explorer until the browser is updated, or use a free RSS reader such as Google reader (www.google.com/reader).

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