Treatable IEM causing intellectual disability

• February 16th, 2012

Dr. van Karnebeek and Dr. Stockler performed a systematic literature review for treatable inborn errors of metabolism causing intellectual disability. Recommendations for investigation of genetic causes of intellectual disability are usually based on the frequencies of single conditions and the yield of diagnostic methods. The objective of this manuscript was to identify all currently treatable inborn errors of metabolism presenting with predominantly intellectual disability so that availability of treatment is also factored in the recommendations. The authors applied Cochrane Collaboration guidelines in formulation of PICO and definitions, and searched in Pubmed (1960-2011) and relevant (online) textbooks to identify ‘all inborn errors of metabolism presenting with intellectual disability as major feature’. 81 ‘treatable inborn errors of metabolism’ presenting with intellectual disability as a major feature were identified. 62% (n=50) of all disorders are identified by metabolic screening tests in blood (plasma amino acids, homocysteine) and urine (creatine metabolites, glycosaminoglycans, oligosaccharides, organic acids, pyrimidines). For the remaining disorders (n=31) a ‘single test per single disease’ approach is required. The levels of available evidence for the various treatments ranged from Level 1b,c (n=5); Level 2a,b,c (n=14); Level 4 (n=45), Level 4-5 (n=27). The results of this work were translated into digital information tools for the clinician (www.treatable-id.org).  

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review. van Karnebeek CD, Stockler S. Mol Genet Metab. 2011 Nov 30. [Epub ahead of print] PMID: 22212131

posted by Yannis Trakadis MD, MSc

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

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

Genome-wide association study compilation

• July 28th, 2007

NCBI’s dbGaP (The database of Genotype and Phenotype) compiles results of studies that have investigated the interaction of genotype and phenotype. These include genome-wide association studies, which are published more and more.

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

Mutalyzer

• July 23rd, 2007

This tool was created to help authors use the correct Human Genome Variation Society nomenclature.

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.

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

Human Variome Project

• July 8th, 2007

To get updated news on the Human Variome Project, please visit this site:

http://www.variome.org/?p=News

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

Human Variome Project

• March 31st, 2007

 
The Human Variome Project participants have met in 2006 and have established 96 recommendations for the collection and accessibility of variations in the human genomic DNA.

Nat Genet. 2007 Apr;39(4):433-6.

Recommendations of the 2006 Human Variome Project meeting.

Cotton RG; participants of the 2006 Human Variome Project meeting; Appelbe W,
Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody
L, Brookes A, Brown AF, Byers P, Maria Cantu J, Cassiman JJ, Claustres M,
Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz
M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima
S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ,
Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M.

Richard G.H. Cotton is at the Genomic Disorders Research Centre, St. Vincent’s
Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia. The
complete list of the authors appears at the end of the paper*.

Human Variome Project

• March 31st, 2007

 
The Human Variome Project participants have met in 2006 and have established 96 recommendations for the collection and accessibility of variations in the human genomic DNA.

Nat Genet. 2007 Apr;39(4):433-6.

Recommendations of the 2006 Human Variome Project meeting.

Cotton RG; participants of the 2006 Human Variome Project meeting; Appelbe W,
Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody
L, Brookes A, Brown AF, Byers P, Maria Cantu J, Cassiman JJ, Claustres M,
Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz
M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima
S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ,
Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M.

Richard G.H. Cotton is at the Genomic Disorders Research Centre, St. Vincent’s
Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia. The
complete list of the authors appears at the end of the paper*.

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

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