Get email updates of your favorite blogs using Feedblitz

• December 31st, 2006

Feedblitz offers a free service to receive the email updates of your favorite blogs.

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Therapies for genetic conditions: Update

• December 30th, 2006

Pompe disease is a rare genetic disorder caused by a deficiency of an enzyme - acid alpha-glucosidase (GAA) - which is needed to break down glycogen.

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iHOP - A gene network for navigating the literature

• December 28th, 2006

Nat Genet. 2004 Jul;36(7):664.
A gene network for navigating the literature.
Hoffmann R, Valencia A.

This new portal is exponentially popular. According to the developpers, “By using genes and proteins as hyperlinks between sentences and abstracts, the information in PubMed can be converted into one navigable resource, bringing all advantages of the internet to scientific literature research. “.

Find out more at http://www.ihop-net.org/UniPub/iHOP/

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

Historical perspectives in genetics

• December 28th, 2006

For interesting perspectives on the history of genetics, please refer to these websites, books and papers:

Electronic Scholarly Publishing, started by Robert J Robbins.

Nature Reviews in Genetics series on Historical Profiles and the History of genetic diseases.

Landmarks in Medical Genetics
Classic Papers with Commentaries
Edited by Peter S. Harper
ISBN 13: 9780195159301
ISBN 10: 0195159306
336 pages, 2004 

The Journal of the History of Medicine and Allied Ressources 

OMMBID Chapter 3 : The Inborn Error and Biochemical Individuality
Authors: Barton Childs, David Valle, Gerardo Jimenez-Sanchez

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

Urinary screening for Fabry disease

• December 28th, 2006

Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report:

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin

J Inherit Metab Dis, January 2007

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

Book: Inborn Metabolic Diseases

• December 27th, 2006

The newest edition of one of the most clinically useful books in the field:

Inborn Metabolic Diseases
Diagnosis and Treatment
4th, rev. ed., 2006, XXII, 561 p., 65 illus., Hardcover
ISBN-10: 3-540-28783-3
ISBN-13: 978-3-540-28783-4

On a related topic, see chapter 66 of OMMBID:

Clinical Phenotypes: Diagnosis/Algorithms
Authors: Jean-Marie Saudubray, Christiane Charpentier

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

Drugs for rare conditions

• December 25th, 2006

J Intern Med. 2006 Jul;260(1):1-10.

Wastfelt M, Fadeel B, Henter JI.

This article gives interesting insights on the development of orphan drugs for rare disorders. It also contains a list of great websites.

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

Metabolic autopsy

• December 25th, 2006

J Pediatr. 2006 Jun;148(6):779-83.

Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR.
 

In this review of 23 cases performed at the Children’s Hospital of Philadelphia, a metabolic autopsy permitted the identification of an undiagnosed metabolic disease in 18% of the cases.

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

del.icio.us and technorati tools

• December 24th, 2006

Science blogs and related websites

• December 24th, 2006

Scientific american

This week in science

Science roll, a journey in genetics and medicine

On genetics

Ouroboros, research in the biology of aging

Fierce bio researcher

Evolution research

North Carolina Science Blogging Conference

News science digest

Science blogs

Rosie Redfield Research

Biohackery

Stem cell research blog

Science sampler

Science and reason

Bio::blogs and the conference edition

Omics! Omics! (nice title)

Biosingularity

Interesting science

Frontiers of Human Function

Xcovery blog - kinase industry knowledge collected and sometimes analyzed

Evolgen

http://www.sciencebase.com/

Have fun browsing!

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

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