Selected new reviews and commentaries, 2 July 2008

2 July 2008

In the last few weeks there has been a wealth of articles focusing on rare inherited diseases:

Issues in genetic testing for ultra-rare diseases: background and introduction.
Ledbetter DH, Faucett WA. Genet Med. 2008 May;10(5):309-13. 

Developing a national collaborative study system for rare genetic diseases.
Watson MS et al. Genet Med. 2008 May;10(5):325-9.

New quality assurance standards for rare disease testing.
Grody WW, Richards CS. Genet Med. 2008 May;10(5):320-4.


Making rare diseases a public-health and research priority.
 

Why rare diseases are an important medical and social issue.
Schieppati A et al.  Lancet. 2008 Jun 14;371(9629):2039-41

Gene patenting and licensing: the role of academic researchers and advocacy groups.
Ledbetter DH. Genet Med. 2008 May;10(5):314-9.

Common and rare variants in multifactorial susceptibility to common diseases
Bodmer W, Bonilla C. Nat Genet. 2008 Jun;40(6):695-701.

Pharmacogenetic testing: not as simple as it seems.
Haga SB, Burke W.Genet Med. 2008 Jun;10(6):391-5.

Genetic exceptionalism. Too much of a good thing?
Evans JP, Burke W. Genet Med. 2008 Jun 18. [Epub ahead of print]

Keeping Pace with the Times - The Genetic Information Nondiscrimination Act of 2008
Hudson KL, Holohan MK, Collins FS. N Engl J Med. 2008 Jun 19;358(25):2661-3.

The genetics of multiple sclerosis: SNPs to pathways to pathogenesis
Oksenberg JR, Baranzini SE, Sawcer S, Hauser SL. Nat Rev Genet. 2008 Jul;9(7):516-26.

Genetic susceptibility to cancer: the role of polymorphisms in candidate genes
Dong LM et al. JAMA. 2008 May 28;299(20):2423-36.

Genetic Predisposition to Breast Cancer: Past, Present, and Future
Turnbull C, Rahman N. Annu Rev Genomics Hum Genet. 2008 Jun 10.

From Darwin's finches to canaries in the coal mine - mining the genome for new biology.
Hunter DJ, Altshuler D, Rader DJ. N Engl J Med. 2008 Jun 26;358(26):2760-3.

This time it's personal
Nature. 2008 Jun 5;453(7196):697

See also:

Francis Collins interview. Departing U.S. genome institute director takes stock of personalized medicine.

Neuroblastoma - linking a common allele to a rare disease.
Kushner BH, Cheung NK. N Engl J Med. 2008 Jun 12;358(24):2635-7.

To thwart disease, apply now

Systems biology. The scale of prediction.
Baliga NS. Science. 2008 Jun 6;320(5881):1297-8.

Genomics: Protein fossils live on as RNA
Sasidharan R, Gerstein M. Nature. 2008 Jun 5;453(7196):729-31

Exploiting the proteome to improve the genome-wide genetic analysis of epistasis in common human diseases
Pattin KA, Moore JH. Hum Genet. 2008 Jun 13. [Epub ahead of print]

More from us