Therapeutic gene causing lymphoma

Posted by & filed under Part 02: PERSPECTIVES, Part 20: IMMUNE AND DEFENSE SYSTEMS.

Nature. 2006 Apr 27;440(7088):1123.
Gene therapy: therapeutic gene causing lymphoma.
Woods NB, Bottero V, Schmidt M, von Kalle C, Verma IM.

3 children who underwent gene therapy for X-linked Severe Combined Immunodeficiency (X-SCID),using therapeutic administration of the IL2RG gene, developped T-cell leukaemia.
In this article, the investigators conducted long term studies in a murine moodel of X-SCID using a similar treatment. One third of the mice developped T-cell lymphomas. This implicates IL2RG in the lymphomagenesis in this model. It underscores the requirement for long-term studies in animals before conducting human gene therapy trials.

For more information on the treatement of genetic disease and on X-SCID, see chapters 5 and 185 of OMMBID, respectively.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Canavan disease and the role of N-acetylaspartate in myelin synthesis

Posted by & filed under Part 28: NEUROGENETICS.

Canavan disease and the role of N-acetylaspartate in myelin synthesis
Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN.

Mol Cell Endocrinol. 2006 Jun 27;252(1-2):216-23

 
In this article, the authors give further proof that N-acetylaspartate acts as an acetate carrier from mitochondria to the cytosol, and is thus important for lipogenesis and myelination in the central nervous system.
They recall that in the brain of Canavan disease mice (APSA -/-), there was nearly an 80% reduction in free acetate levels.
Supplementing these mice with glyceryl triacetate increases the brain acetate levels without affecting N-acetylaspartate levels and without toxicity.

For more information on Canavan disease, see chapter 229 of OMMBID.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Online teaching cases

Posted by & filed under Websites.

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.

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

Treatment strategies for hereditary disorders

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES.

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

ICIEM 2006

Posted by & filed under Meetings.

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

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

Hepatocyte transplantation for argininosuccinate lyase deficiency

Posted by & filed under Part 08: AMINO ACIDS.

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.

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

Gene therapy for GSD-1a

Posted by & filed under Part 07: CARBOHYDRATES.

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.

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

Syndroc

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Websites.

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.

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

RSS feeds

Posted by & filed under Part 03: GENERAL THEMES, Websites.

 

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