1000$ Genome

• February 26th, 2007

Nature Genetics asked scientists:

What would you do if it became possible to sequence the equivalent of a full human genome for only $1,000?

Click here to see their answers.

Philippe Campeau

Autism risk loci mapping

• February 26th, 2007

In this paper:

Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium
Nature Genetics
Published online Feb 18th 2007

A consortium of investigators mapped regions implicated in autism in the largest cohort of families with autism. They implicated chromosome region 11p12–p13 and neurexins.

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 names

• February 18th, 2007

After reading this post by Bertalan Meskó, I became aware of this effort by people at the HUGO gene nomenclatrue committe to change the name of genes which can be considered as offensive.

Interesting debate.

 Philippe Campeau

Cornstarch intervals

• February 2nd, 2007

I was surprised to see the post stating that older GSD type 1 patients can last 7 hours with a single dose of bedtime cornstarch. Our experience, as well as that of many other families, is that metabolic control is compromised if doses are not delivered Q 4 hours. This has been confirmed by inpatient studies on metabolic units. Even though the patient may be within acceptable limits at the end of the extended time period, studies have shown that there are periods of frank hypoglycemia occuring within the extended time period, and that lactate levels are elevated. Despite the sleep disruption we have elected to keep our child (now aged 15) on a 4 hour overnight schedule.

Comment by GSDmom about excerpt on GSD treatment from OMMBID included in this comment.

New IEM: Dolichol Phosphate Synthesis defect

• February 2nd, 2007

Four patients from 2 different families were identified with a new inborn error of metabolism: a defect in the biosynthesis of Dolichol Phosphate.

Frequent features include ichtyosis, hypotonia and dilated cardiomyopathy. Transferin isoelectric focusing was abnormal.

For more details, see the article and website:

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

Christian Kranz, Christoph Jungeblut, Jonas Denecke, Anne Erlekotte, Christina Sohlbach, Volker Debus, Hans Gerd Kehl, Erik Harms, Anna Reith, Sonja Reichel, Helfried Gröbe, Gerhard Hammersen, Ulrich Schwarzer, and Thorsten Marquardt

The American Journal of Human Genetics, volume 80, March 2007

Website with movie.

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

JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis

• February 1st, 2007

See this article for details on this description of a new mutation in JAK2 associated with a dinstinct myeloproliferative syndrome.

Philippe Campeau