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8 July 2008Introgen Therapeutics Inc. has become the first company to apply for FDA approval of a gene therapy drug to treat cancer (see press release). Although high profile gene therapy trials reported in the media have largely been for rare inherited diseases such as muscular dystrophy (see previous news), in fact two-thirds of all gene therapy treatments currently in clinical trials are for types of cancer (see Gene Therapy Clinical Trials Worldwide).
7 July 2008Sudden cardiac death (SCD) in younger athletes is typically the result of structural or electrical defects of the heart, many of which are the result of inherited (genetic) cardiovascular disorders. Unfortunately it is common for death to occur without any previous symptoms in apparently healthy athletes, which has led to the suggestion that screening, including physical examination, electrocardiography (ECG), and the taking of a family history, is advisable to prevent sudden cardiac death in this group. The cost effectiveness and utility of cardiovascular screening of athletes has been a subject of some debate, with the American Heart Association recommending against universal ECG screening in athletes whilst the European Society of Cardiology and the International Olympic Committee advocate it [Drezner JA, Khan K BMJ 2008;337:a309].
3 July 2008Regenerative medicine has continued to feature in the headlines recently. The European Science Foundation has announced plans to strengthen the research base in this area, which they define as “the development of stem cell therapies to restore lost, damaged, or ageing cells and tissues in the human body” (see press release). The new REMEDIC initiative, a five-year a research networking programme intended to facilitate information exchange and collaborative research, is supported by organisations from several European countries including Germany, Spain, Switzerland, Austria and the Netherlands. The Canadian government has announced funding of more than $100 million for the Canadian Cancer Stem Cell Consortium (see CBC news), which is to join with the California Institute for Regenerative Medicine (CRIM) in the US for a project on the role of cancer stem cells in disease development (see press release). CRIM has also announced a collaborative partnership with the Australian state of Victoria (see press release).
1 July 2008Health minister Lord Darzi has released his report on and strategy for the NHS in England, the NHS Next Stage Review, which is based around delivering quality of care; quality is defined as “clinically effective, personal and safe” (see report summary). It is suggested that that NHS funding for hospitals, GP practices and other bodies will depend on how well they are deemed to have provided accessible, high quality care by patients, although how this will be measured is not decided. This includes increased emphasis on improving health and preventing disease, including implementation of all recommendations from national expert committees for screening programmes.
30 June 2008A second major common susceptibility allele has been discovered for increased risk of Alzheimer’s disease [Dreses-Werringloer U. et al. (2008) Cell 133: 1149-1161], through a combination of epidemiological studies, bioinformatics and molecular biology.
27 June 2008A paper in the British Journal of Cancer presents evidence that male carriers of mutations in the BRCA1 or BRCA2 genes (associated with hereditary breast-ovarian cancer syndrome) are not only at five-fold increased risk of prostate cancer compared with the general male population, but also show much more rapid disease progression [Narod SA et al. (2008) Br J Cancer. Jun 24. Epub ahead of print]. This work replicates earlier findings by Icelandic researchers who found a significantly reduced survival for a smaller group of male BRCA2 mutation carriers with prostate cancer [Tryggvadottir L et al. (2007) J Natl Cancer Inst. 99(12):929-35.]
26 June 2008New research published in the New England Journal of Medicine suggests that testing individuals for their genetic risk for breast cancer could play an important role in population screening [Pharoah PDP et al. (2008) NEJM 358(22): 2796-2803].
25 June 2008The American Medical Association (AMA), the largest physician group in the US, held its Annual Meeting this month; among the policies adopted were recommendations relating to direct-to-consumer (DTC) advertising and provision of genetic tests (see press release). The AMA recommended that genetic testing should be carried out under the supervision of a qualified health care professional and physicians be provided with more information on the types of genetic tests available so that patients can be appropriately counselled on the potential harms. They also recommend that appropriate organizations should be encouraged to develop criteria for the advertising of DTC genetic tests. The American College of Medical Genetics released a policy statement in April containing similar views and similar recommendations have been made by a number of other organisations (see previous news).
23 June 2008A recent front page article describing a risk-free blood test for Down syndrome in pregnancy (see The Times, 21st June) has generated considerable online discussion, primarily centring on the worth of individuals with Down syndrome and the ethics of abortion.
20 June 2008A new Canadian biobanking initiative has been launched by the Canadian Partnership Against Cancer, a federally- funded independent organization; the prospective cohort study aims to recruit 300,000 Canadians aged between 35 and 69, and follow them for the next 20-30 years while collating biological specimens including blood and urine, along with information on health and lifestyle factors. The intention is to recruit participants in a random fashion rather than calling for volunteers, although there will be a degree of self-selection since individuals invited to participate may not choose to do so.
20 June 2008An independent report on the social and ethical challenges associated with research into synthetic biology has been published this month (see press release). The report, ‘Synthetic Biology: social and ethical challenges’, has been written by Andrew Balmer and Paul Martin of the Institute for Science and Society at the University of Nottingham and was commissioned by the BBSRC’s Bioscience for Society Panel.
2 July 2008In 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.
Lancet. 2008 Jun 14;371(9629):1972
Rare diseases: what's next?
Remuzzi G, Garattini S. Lancet. 2008 Jun 14;371(9629):1978-9.
Why rare diseases are an important medical and social issue.
Schieppati A et al. Lancet. 2008 Jun 14;371(9629):2039-41
Gene therapy of inherited diseases.
Fischer A, Cavazzana-Calvo M. Lancet. 2008 Jun 14;371(9629):2044-7.
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.
Kaiser J. Science. 2008 Jun 6;320(5881):1272
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
Nature. 2008 Jun 12;453(7197):823.
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]