In the news

  • Newsletter Edition
The PHG Foundation monthly newsletter features news and views about genetics and genetics research, from a public health perspective. The newsletter is written by staff of the PHG Foundation.

In the news

News story   |   By Dr Philippa Brice   |   Published 30 April 2007

A doctor from University College Hospital, London has submitted an application to the Human Fertilisation and Embryology Authority (HFEA) for permission to perform prenatal genetic diagnosis (PGD) on embryos for the purpose of identifying mutations in the BRCA1 gene associated with hereditary breast and ovarian cancer syndrome (see BBC news story).

In May 2006 the HFEA announced that they would permit PGD to screen embryos for genetic variants associated with hereditary forms of cancer such as breast and bowel cancers (see previous news story). This decision was controversial because inheritance of an associated mutation for these disorders does not guarantee that the individual will go on to develop the disease within a lifetime for example, mutations in the BRCA genes are associated with a 40-80% lifetime risk of breast cancer and a 10-50% risk of ovarian cancer). An additional issue was that onset of disease among those affected is not usually seen before adulthood. However, the HFEA ruled that the risk of cancer and the nature of the preventative interventions or treatments were sufficient for the condition to be considered a serious form of disease.

Although the HFEA permits the use of PGD to select embryos free from inherited predisposition to specific forms of cancer for in vitro fertilisation in principle, each application must be individually reviewed before approval may be given.


News story   |   By Dr Alison Stewart   |   Published 30 April 2007

The European Commission recently announced that it has allocated 1 million euros of 6th Research Framework Programme funding over 3 years to set up a European registry of human embryonic stem cell lines. The registry will be maintained jointly by the Centre for Regenerative Medicine in Barcelona and the newly established Berlin-Brandenburg Centre for Regenerative Therapies in Berlin. Ten European countries are involved in the project; these are all countries (such as Denmark, Belgium and the UK) where it is legal either to create hES cell lines or to use existing lines. Some non-EU countries that are active in hES cell research (Israel, Turkey, the US, Australia and Switzerland) will also contribute information to the registry. About 80 hES cell lines are currently in use in EU-funded projects, which must pass strict ethical scrutiny before funding is approved.

The aim of the registry is to enable the most efficient use of hES cell resources by sharing information on the standardisation and characterisation of cell lines and providing news about promising developments such as the initiation of clinical trials.

The EU registry will be overseen by an Advisory Board to ensure the highest scientific standards, and by an independent Ethics Advisory Board. 

Keywords : rStem Cells

News story   |   By Dr Philippa Brice   |   Published 30 April 2007

The Human Fertilisation and Embryology Authority (HFEA) has launched a public consultation on the ethical and social implications of creating human/animal embryos for research purposes.

This follows applications to the HFEA for licences to create such chimeras as a source of embryonic stem cells by two UK research teams in late 2006; the HFEA eventually decided that such applications were both legal and within their regulatory remit, but felt that a specific consultation on the topic was called for (see previous news story). The applications are currently suspended, and will pass to the licensing committee for consideration once the consultation is complete.

The Hybrids and Chimeras consultation document is available from the HFEA, and the consultation is open until 20 July 2007.


News story   |   By Dr Philippa Brice   |   Published 30 April 2007

On April 25th, the US House of Representatives passed the Genetic Information Nondiscrimination Act of 2007 (GINA)  with a 420-3 majority in favour. The Senate has yet to approve the Act, but is likely to do so; there have been two previous attempts to introduce legislation to prevent genetic discrimination that were approved unanimously by the Senate but not the House of Representatives (see previous news story). The new Act, if it passes into law, will prevent employers and insurers (including health plan providers) from discrimination on the basis of genetic information – increasing premiums or denying coverage solely on the basis of genetic information. However, the prohibitions do not apply to diseases that are already present in individuals. New rules relating to confidentiality for genetic information are also introduced by the legislation.

A new publication from the Genetics and Public Policy Center of John Hopkins University, U.S. Public Opinion On Use of Genetic Information and Genetic Discrimination, reportedly indicates that three-quarters of US citizens support such legislation, although the vast majority are in favour of using genetic information to improve health. The White House has also expressed support for the Act, but some commercial groups have expressed concern.


News story   |   By Alison Hall   |   Published 25 April 2007

The Genetics and Insurance Committee, the non-statutory advisory body with a remit to scrutinise how genetic tests are used and evaluated by the insurance industry, published their 5th annual report on 23rd April 2007. As the report acknowledged, ‘2006 has proven to be a relatively quiet year for the Committee’. A moratorium preventing the use of predictive genetic tests for income protection, critical illness cover and life insurance up the value of £30,000, £300,000 and £500,000 respectively, remains in place until November 2011. However, workload for GAIC is set to increase: although the Association of British Insurers (ABI) have previously announced that it will not be submitting any applications to use predictive genetic tests, including those for breast cancer, during 2007, they have future plans to issue an application for use of predictive testing for BRCA1 and 2 genes in the context of income protection, critical illness and life policies as early as 2008.

As the end of the moratorium approaches, GAIC will also have to grapple with concerns that difficulties in obtaining insurance will dissuade prospective users of genetic tests from taking medically useful genetic tests (the so-called ‘test now, buy later’ problem). Annex D presents a historical account of predictive and diagnostic genetic test results reported for BRCA1, BRCA2 and Huntington’s disease genes from 1994-2006 which show an increase in testing volume but fall in positive predictive results. However the report acknowledges that differences in definitions, reduction of backlog and multiple testing may confound some of the reported figures.


News story   |   By Dr Alison Stewart   |   Published 25 April 2007

Fulfilling one of the recommendations in the 2005 report of the UK Stem Cell Initiative (known as the ‘Pattison’ report), a National Stem Cell Network has been set up in the UK to help coordinate national and regional initiatives to promote and support research on stem cells and their ethical and policy implications. Launched on 18 April at an event in London, the UK National Stem Cell Network aims to become the focal point for communication about stem cell research between academia, the public and industry. It will also represent the views of researchers in the stem cell field to policy makers, and be the main point of contact in the UK for overseas researchers and potential investors in stem cell science.

The UKNSCN will coordinate – but not replace – the work of several existing regional and research-based networks, including the East of England Stem Cell Network, the Scottish Stem Cell Network, the London Regenerative Medicine Network and the North East England Stem Cell Institute. It is run through an independent Steering Committee operated by the Biotechnology and Biological Sciences Research Council on behalf of all the Government sponsors of stem cell research, including the Research Councils, the Science and Technology Facilities Council, the Department of Health, the Department of Trade and Industry, and the Office of Science and Innovation.

An early task for the UKNSCN will be to prepare to host the 2009 conference of the International Society for Stem Cell Research in London.


News story   |   By Dr Alison Stewart   |   Published 20 April 2007

Two US Senators have introduced a Bill into the US Congress that would, if it clears the many hurdles to become law, require companies offering clinical testing services to supply evidence of their test’s analytical and clinical validity. Currently ‘home brew’ tests, where the company offering the test carries it out in its own facility rather than selling test kits to be used by others, are exempt from needing approval by the US Food and Drug Administration (FDA). The Laboratory Test Improvement Act proposed by Senators Kennedy and Smith would mandate all test providers to provide information about the test’s performance for inclusion in a database available to the public on the Internet. Tests would have to go through a full process of approval and clearance by the FDA under specific circumstances, such as “if the information on the test in the database is inadequate, if it shows the test is not comparable to an FDA-cleared or approved test kit, or if the test is a direct-to-consumer test”. Tests would have to be labelled to indicate whether they had received FDA approval, and this information would also have to be included with rest results. Comments on Senator Kennedy’s website indicate that, although the Bill is intended to cover clinical laboratory tests in general, the Senators have genetic tests particularly in mind in proposing the legislation.


News story   |   By Dr Philippa Brice   |   Published 18 April 2007

A new web-based resource intended to facilitate the development of novel drugs for the treatment of infectious diseases has been launched; the Drug Target Prioritization Database is freely available to researchers from both developed and developing countries. The Drug Target Prioritization Network, an international consortium of researchers established by the World Health Organisation (WHO), is focused on the discovery of novel drugs for the treatment of major global infectious diseases, such as malaria, TB and leishmaniasis, which are prevalent in developing countries that typically lack the resources for large-scale research of this kind.

The new database provides genomic and bioinformatic data for each designated ‘priority’ pathogen, along with curated and annotated information from research literature and other relevant databases, the better to allow users to identify potential targets for drugs directed against the pathogenic organism. It also expected to be useful for the design of novel vaccines and diagnostic tools (see press release). The international research community is encouraged by the Drug Target Prioritization Network to take advantage of and contribute to the new resource.


News story   |   By Dr Alison Stewart   |   Published 18 April 2007

Research on variation in the human genome and its clinical consequences has spawned a bewildering number and variety of databases, including the Human Gene Mutation Database (HGMD), dbSNP and TSC (databases of single nucleotide polymorphisms), the HapMap database, and OMIM (On-line Mendelian Inheritance in Man). In addition, there are many disease-based databases that catalogue variants associated with specific diseases, and some databases containing information on disease-associated variation in specific racial or ethnic groups. However, none of these databases is complete, data are often fragmentary and dispersed among different research groups around the world, and in some cases public access may be restricted or delayed because the database is commercially funded.

Recognising a need for greater coordination, standardisation and accessibility, representatives from several key organisations including the World Health Organisation, the US National Human Genome Research Institute, the UK’s Wellcome Trust Human Genome Campus, the European Bioinformatics Institute, UNESCO and leading universities met in Australia last year to launch the Human Variome Project. A commentary outlining the objectives and outcomes of this meeting is available in this month's edition of Nature [Cotton RG (2007) Nat Genet. 39(4):433-6]. The meeting formulated 96 recommendations on how to achieve ‘efficient, complete collection and accurate curation’ of variations in the canonical human DNA sequence, with an emphasis on the relationship between this variation and disease or other phenotypes.

Key tasks for the Human Variome Project include capturing and archiving all disease-associated human gene variation in a central gene-specific database; providing a standardised system of gene variation nomenclature; developing common software to enable exchange of data among a federation of gene-specific, country (population)-specific and disease-specific databases; encouraging participation by clinical diagnostic laboratories; devising ways for clinicians to use the database as a source of information on health outcomes associated with genetic variation; maintaining open access; supporting the involvement of countries from the developing world; and establishing a programme of communication and education.

Potential sources of funding for the Human Variome Project have been identified among key government, commercial and charitable sector organisations but the necessary grants have yet to be secured. As with all ambitious initiatives, securing stable funding will be vital if the project is to succeed. The Genomic Disorders Research Centre in Melbourne, Australia has been designated as the Human Variome Project’s coordinating office, and a website has been established at http://www.humanvariomeproject.org.



News story   |   By Dr Philippa Brice   |   Published 9 April 2007

The UK Science and Technology Committee has published its latest report on Government proposals for the regulation of hybrid and chimeric embryos, speaking out against a proposed ban on the creation of human-animal hybrid embryos. This proposal formed part of a recent review of the Human Fertilisation and Embryology Act, and was in part a reaction to public opinion against the creation of such chimeras. However, the MPs on the committee say that such a ban would be unnecessary and potentially harmful to the progress of UK stem cell science, fearing that prominent researchers might leave for countries with more permissive regulation; the UK currently has one of the most liberal regulatory regimes with respect to stem cell and reproductive research. The report says that: public confidence in this area of research must be encouraged and that the Government should ensure wider public understanding in this area through increased education and dialogue”, adding that “the creation of human-animal chimera or hybrid embryos, and specifically cytoplasmic hybrid embryos, is necessary for research”.

The STC report calls for the HFEA to regulate applications for licences to perform research including the creation of chimeric embryos, and criticises their current suspension of a decision on research applications made in 2006, which are on hold pending a formal consultation on the issue by the HFEA. The report also suggests a prohibition on allowing human-animal hybrid embryos to develop past 14 days, or to be implanted in a human womb. Representatives of other medical bodies and charities have also expressed concern about an outright ban (see BBC news report). The Government is due to publish a draft Bill covering this issue next month.


News story   |   By Dr Alison Stewart   |   Published 2 April 2007

The UK’s Medical Research Council recently announced an investment of £15 million to establish six new centres of translational medicine, which will aim to accelerate the translation of scientific advances into new drugs, diagnostics, therapies and preventive strategies to improve human health and combat disease. Genomics features prominently in the work of three of these centres. Steve O’Rahilly and colleagues in Cambridge are investigating genomic factors as part of the range of causes of obesity and metabolic disease, while Dominic Kwiatkowski’s group in Oxford aims to build a global data-sharing network for genomic data on infectious diseases. The MRC Centre for Causal Analyses in Translational Epidemiology, headed by George Davey Smith, will apply knowledge of genetic analyses to large-scale studies of the health of the population, with the aim of identifying causal factors that can suggest interventions to reduce disease risk. 


Research articles

Research article   |   By Dr Alison Stewart   |   Published 27 April 2007

Around 5–70% of cases of some genetic diseases are caused by mutations that introduce a premature ‘stop’ signal into the gene. When the cellular machinery that translates genetic information into proteins encounters a messenger RNA (mRNA) that has such a premature ‘stop’ signal (also known as a nonsense mutation), it stops translating the message and produces a truncated, non-functional protein. Researchers at the PTC Therapeutics Company in the US have developed a drug that could be a powerful treatment for diseases caused by nonsense mutations, by enabling the translational machinery to read through a premature stop signal and produce a stable, functional protein [Welch EM et al. (2007) Nature advance online publication doi:10.1038/nature05756 (abstract)].

The drug, PTC124, was selected from a high-throughput screen of about 800,000 low-molecular weight compounds, designed to detect candidates with nonsense-suppression activity. When tested on mouse models of the human genetic disease Duchenne muscular dystrophy (DMD), it enabled production of dystrophin protein at about 35% of normal levels and significantly reduced the muscle damage that is characteristic of this disease. The drug also appeared to work in cell cultures from human patients with DMD.

PTC124 has several important features that make it a promising therapeutic candidate: it can be administered orally; it appears so far to be safe and non-toxic; it is specific for nonsense mutations and does not affect normal translational termination; and it works only by allowing read-through of premature stop signals, and does not affect an important cellular mechanism that degrades abnormal mRNAs.

Comment: PTC124 could potentially be used to treat any genetic disease caused by a nonsense mutation, provided the drug could be administered before any irreversible damage had occurred. For example, about 13% of DMD cases, and 10% of cases of cystic fibrosis, are caused by nonsense mutations; nonsense mutations also feature in hundreds of other genetic diseases including beta-thalassaemia, Hurler syndrome and haemophilia. In most cases, lifelong daily treatment would be necessary.

Although the researchers report that clinical trials of PTC124 are underway, the drug still has many hurdles to clear before it can be used clinically in humans.


Research article   |   By Dr Alison Stewart   |   Published 23 April 2007

Chemotherapy treatment for cancer is debilitating and unpleasant, and individuals vary widely in the responsiveness of their cancer to the drug. Boosting the drug-sensitivity of tumour cells might make it possible to give lower doses of a chemotherapy agent while still achieving an effective response and minimising side effects. Researchers at the University of Texas Southwestern Medical Centre have devised a high-throughput technique for individually blocking the activity of each of 21,000 human genes in non-small-cell lung cancer (NSCLC) cells, and measuring in each case whether this had the effect of enhancing the ability of the chemotherapy drug paclitaxel to kill the cells [Whitehurst, AW et al. (2007) Nature 446, 815-9]. Each gene was targeted for inactivation by specific small-interfering RNA (siRNA) molecules, which inhibit gene expression.

 

87 genes were identified which, when inactivated in this way, made the cells sensitive to paclitaxel concentrations up to 1000-fold lower than those normally needed to achieve a significant response. They included some genes known to be involved in basic processes of cell division, and some that are not expressed in normal lung tissue. Some of the latter genes were also tested in other NSCLC cell lines, with the same result; that is, their inactivation potentiated paclitaxel action. Importantly, inactivation of these genes did not affect a normal lung cell line.

 

The gene targets identified were specific to paclitaxel action. For example, inactivating these genes did not affect the maximally effective concentration of gemcitabine, a chemotherapy drug that has a different mechanism of action.

 

Comment: These experiments may point to a way of specifically enhancing the sensitivity of cancer cells to killing by chemotherapy drugs. However much more research is needed, particularly to determine whether specific gene inactivation could be achieved safely and effectively in a tumour within a living cancer patient.       


Research article   |   By Dr Philippa Brice   |   Published 19 April 2007

People carrying one or two copies of a specific variant of a gene called FTO are heavier on average and have a higher body mass index than those who do not carry the variant, according to British researchers [Frayling, TM et al. (2007) Science Apr 12; Epub ahead of print]. The FTO gene, whose function is so far unknown, was originally identified in a study aimed at finding genes associated with type II diabetes, by comparing 500,000 single nucleotide polymorphisms (SNPs) in 1924 people with diabetes and 2938 people without the disease. While some diabetes-associated genes are involved in insulin metabolism, the association between the FTO SNP and diabetes appeared to be mediated by an effect on body mass index (BMI), prompting the researchers to look for the variant in other study populations – totalling nearly 39,000 individuals – in which BMI had been measured. The association between the FTO SNP and BMI held up strongly in two diabetes populations, nine cohorts of white European adults, and two studies of European children.

On average, people with one copy of the FTO SNP (about half the population) had a 30% increased risk of being obese compared to those with no copies. People with two copies had a 70% increased risk, and were on average 3 kg heavier than otherwise similar people who did not carry the variant. 

Comment: The association between the FTO gene and body mass index appears to be robust, and is strengthened by the fact that it has been confirmed in several different populations. It is hoped that further studies on the FTO gene will reveal its function and shed light on how a single base change in its sequence can have such a dramatic effect on weight gain.

It is important to keep in mind, however, that the second law of thermodynamics still applies: weight gain results from consuming more calories than are expended. Perhaps it may soon be possible to understand why some people are more prone to this imbalance than others.      


Research article   |   By Dr Alison Stewart   |   Published 16 April 2007

Twin studies and other evidence suggest a significant genetic contribution to susceptibility to autism spectrum disorders (ASDs), a range of debilitating neurodevelopmental disorders that together affect about 6 in every 1,000 children. Whole genome linkage scans have revealed some chromosomal regions that might be associated with autism risk. There is also evidence that chromosomal abnormalities, including submicroscopic changes, might contribute, and some candidate genes have been suggested for involvement in the condition.

Two new papers point to submicroscopic copy number variations (CNVs; that is, changes in the number of copies of a DNA sequence) as important contributors to genetic risk for ASD. The Autism Genome Project Consortium studied over 1000 families in which there were at least two affected individuals [The Autism Genome Consortium (2007) Nat Genet 39, 319-28]. Using a microarray approach, they found that in around 10% of the families there were “possibly detrimental” CNVs shared by all affected members of the family. Two-thirds of the CNVs represented gains of genetic material averaging about 3 million base pairs in size. Some of these CNVs were found in more than one family, and some coincided with previously published ASD chromosomal abnormalities. One significant CNV affected the neurexin gene, encoding a protein with a role in signalling in the nervous system, supporting previous evidence that neurexin is a possible candidate for involvement in ASDs. In 10 of the families, the CNVs were not inherited from the affected individuals’ parents; that is, they appeared to have arisen sporadically.

Reporting in Science magazine, Sebat and colleagues used a different technique, comparative genomic hybridization, to study CNV in 118 patients with sporadic autism, 77 patients with an affected first-degree relative, and 196 controls (Sebat J et al. Science Express, published online March 15, 2007). They report a marked difference in the occurrence of de novo CNVs (those not inherited from either parent), finding them in about 10% of patients with sporadic disease but only 2% of those with familial disease and 1% of controls. The observed CNVs affected many different regions of the genome and included mutations of single genes.

Comment: These papers strengthen the evidence for an involvement of copy number variation as part of the complex genetic architecture of ASDs. There is likely to be substantial genetic heterogeneity, with different combinations of genetic variants and chromosomal abnormalities combining to influence risk in different individuals and families. Further research will be needed to clarify the relative importance of CNV in sporadic and familial cases of the disease. Pinpointing sites of CNV and analysing the roles of the affected genes may help shed light on the biology of autism.
Keywords : autism

Research article   |   By Dr Philippa Brice   |   Published 4 April 2007

A paper in the journal Human Genetics has reported the discovery of a novel form of genetic twinning. Twins are normally classified as dizygous (fraternal) or monozygous (identical); identical twins develop from the same fertilized egg and share 100% genetic identity, whilst non-identical twins develop from different fertilized eggs and share 50% genetic identity, as any two siblings with the same parents would. Now, a set of twins born in the US have been found to share greater genetic identity than a dizgous pair, but less than monozygous pair [Souter VL et al. (2007) Hum Genet. 121(2):179-85].

Each twin has a chimeric 46 XX / 46 XY chromosomal content, and share 100% of maternal alleles but only around 50% of paternal alleles. The proportion of XX to XY cells varies between and within each twin, and this is presumed to account for the fact that one twin is phenotypically male whilst the other displayed a degree of hermaphroditism (ambiguous genitalia). The authors postulate that the twins developed from a single egg fertilized by two different sperm cells, a mechanism that has previously been proposed as being a theoretical possibility. The twins are reported to be healthy toddlers; the hermaphrodite twin is being raised as a girl.

Comment: This report is of interest in that it suggests that other unusual cases of genetic twinning may occur and go undetected. The twins in this case only came to medical attention because one possessed a significant amount of both ovarian and testicular tissue. Whilst the particular example of ‘semi-identical’ twinning is likely to be an extremely rare event, it shows that highly improbable events can nevertheless occur. This reinforces the necessity to consider such issues, and related examples such as human chimerism or mosaicism, when developing or using applications that assume normal genetic inheritance and cellular genetic composition, such as DNA profiling for criminal investigation or paternity testing.

Keywords : Molecular Genetics

Research article   |   By Dr Philippa Brice   |   Published 4 April 2007

A paper in the April edition of PNAS reports the creation of a mosquito strain that has been genetically modified to be resistant to malaria. Anopheles mosquitoes are the insect vector for the Plasmodium parasite that causes malaria, a disease that is a leading cause of ill-health and death in the developing world, primarily sub-Saharan Africa.

A potential strategy for controlling malaria is by targeting the insect vectors to break the pathogen life-cycle. Now a US research team reports that the mosquito strain that had been genetically modified to block infection by Plasmodium berghei (the rodent-specific strain of malaria parasite) have a fitness advantage [Marrelli MT et al. (2007)Proc Natl Acad Sci USA 104(13):5580-3]. The transgenic mosquitoes, which express a small gut protein that blocks infection by the malaria parasite, were found to survive for longer and lay more eggs than the normal mosquitoes when both groups were fed on infected blood; this effect was not apparent when uninfected blood was used.

Comment: This work was in a mouse model system; the major human-specific forms of both the Plasmodium parasite and the mosquito vector differ from the rodent versions, so the results are not directly applicable to humans, but represent a useful ‘proof-of-principle’ that genetic modification of an insect vector could potentially form part of a strategy to control infectious diseases such as malaria.


New reviews and commentaries

New reviews and commentaries, 16 April 2007

Reviews & commentaries : by Dr Philippa Brice

Cytochrome P450 genotyping and antidepressants. Perlis RH (2007) BMJ 334(7597):759. Editorial considering the current lack of evidence for the clinical efficacy of pharmacogenetic testing to predict the efficacy of antidepressant drugs (PubMed).

National population-based biobanks for genetic research. Swede H, Stone CL, Norwood AR (2007) Genet Med 9(3):141-9. Review of population-based biobanks for genetic research, and how US public health practitioners and clinicians may be required to participate in planning and regulation of such initiatives (PubMed).

Cancer: division of labour.
Christofori G (2007) Nature 446(7137):735-6. News and views piece on new insights into the role of specific genes in tumorigenesis and metastasis (PubMed).

Genomics: Global views of leukaemia
. Golub TR (2007) Nature 446(7137): 739-40. News and views piece on the identification of common genetic features underlying a form of leukaemia (PubMed).

More evidence to favour newborn screening for cystic fibrosis. Wilcken B, Gaskin K (2007) Lancet 369(9568):1146-7. Commentary accompanying new UK research into the economics of newborn CF screening suggesting that the practice is cost-effective (PubMed).

Genetic screening for cystic fibrosis: An overview of the science and the economics.
Brice P, Jarrett J, Mugford M (2007) J Cyst Fibros. Mar 16; [Epub ahead of print]. Review of the health economics of CF screening (PubMed).

Newborn screening: a literature review. Kayton A (2007) Neonatal Netw26(2):85-95. Review of newborn screening practice in the US, including the use of tandem mass spectrometry (PubMed).

Communicating genetic information in families - a review of guidelines and position papers. Forrest LE, Delatycki MB, Skene L, Aitken M (2007) Eur J Hum Genet. Mar 28 [Epub ahead of print]. Review of ethical / clinical guidelines and policies on the communication of genetic information in families from a total of 18 different organizations in six countries, concluding that there are some gaps that need to be addressed (PubMed).

The latest edition of the journal Current Opinion in Cardiology has some review articles on the genetics of different common cardiac disorders:

A review of the genetics of essential hypertension.
Binder A (2007) Curr Opin Cardiol22(3):176-84. Review (PubMed).

Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?
Bos JM, Ommen SR, Ackerman MJ (2007) Curr Opin Cardiol22(3):193-9. Review (PubMed).

The genetics of congenital heart disease: a review of recent developments.
Weismann CG, Gelb BD (2007) Curr Opin Cardiol22(3):200-6. Review (PubMed).

Human rights and ethics in genomic research: rethinking the model. Ashcroft RE (2007) Pharmacogenomics8(4):391-5. Opinion piece on the ethical governance of collections of human material for genomic research, proposing a change from a protection-oriented to a development-oriented model (PubMed).

Impact of pharmacogenomics on clinical practice in oncology. Marsh S (2007) Mol Diagn Ther. 11(2):79-82. Review of progress towards the incorporation of pharmacogenomics into cancer therapeutics and management (PubMed).

Sporadic colorectal cancer and individual susceptibility: A review of the association studies investigating the role of DNA repair genetic polymorphisms.Naccarati A, Pardini B, Hemminki K, Vodicka P (2007) Mutat Res. Feb 28; [Epub ahead of print]. Systematic review that fails to identify any reliable associations between genetic variants and colorectal cancer (PubMed).

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New reviews and commentaries, 4 April 2007

Reviews & commentaries : by Dr Philippa Brice

The egg trade - making sense of the market for human oocytes. Spar D (2007) N Engl J Med. 356(13):1289-91. Perspective article calling for renewed debate and policies on the issue of oocyte donation for research purposes (PubMed).

Genes on ice.
Watts G (2007) BMJ 334(7595):662-3. Feature article on the function and associated problems of biobanks (PubMed).

Modern genetics, ancient defenses, and potential therapies. Gregersen PK (2007) N Engl J Med. 356(12):1263-6. Editorial piece accompanying research report on the application of genetics in personalizing therapeutics for autoimmune disease (PubMed).

Genetic screening for cystic fibrosis: An overview of the science and the economics.
Brice P, Jarrett J, Mugford M (2007) J Cyst Fibros. 2007 Mar 16; [Epub ahead of print]. Review from a public health perspective of the economics of genetic screening for CF (PubMed).

The April edition of Nature Genetics has a special focus on epigenetics:

Environmental epigenomics and disease susceptibility.
Jirtle RL, Skinner MK (2007) Nat Rev Genet. 8(4):253-62. Review on possible links between environmental exposures, epigenetic modifications and disease susceptibility (PubMed).

Epigenetic signatures of stem-cell identity.
Spivakov M, Fisher AG (2007) Nat Rev Genet. 8(4):263-71. Review on unique epigenetic profiles of embryonic stem cells and how they may relate to pluripotency (PubMed).

Transposable elements and the epigenetic regulation of the genome.
Slotkin RK, Martienssen R (2007) Nat Rev Genet. 8(4):272-85. Review on the function of transposable elements (PubMed).

Cancer epigenomics: DNA methylomes and histone-modification maps. Esteller M (2007) Nat Rev Genet. 8(4):286-98. Review of progress in genome-wide analysis of cancer epigenetics calling for increased research efforts in analysis of both cancer and normal human epigenomes (PubMed).

The epigenetic regulation of mammalian telomeres. Blasco MA (2007) Nat Rev Genet. 8(4):299-309. Review on links between epigenetic status and regulation of telomere length, with implications for research in cancer and ageing (PubMed).

Genotypes, obesity and type 2 diabetes - can genetic information motivate weight loss? A review. Gable D, Sanderson SC, Humphries SE (2007). Clin Chem Lab Med. 45(3):301-8. Review of genetic factors that influence risk of type 2 diabetes, discussing whether this information will have any impact on patient lifestyle changes (PubMed).

Nutrigenomics - 2006 update. Kaput J (2007) Clin Chem Lab Med. 45(3):279-87. Review of progress in the field of nutritional genomics (PubMed).

Addressing the obesity epidemic: a genomics perspective. Newell A, Zlot A, Silvey K, Arail K (2007) Prev Chronic Dis. 4(2):A31. Review of how genomics approaches may be used to tackle obesity in public health practice (PubMed).

Genetics of sleep and sleep disorders. Kimura M, Winkelmann J (2007) Cell Mol Life Sci. 2007 Mar 15; [Epub ahead of print]. Review on current understanding of the role of genetic factors on sleep, and possible future prospects for genetic studies on sleep and sleep-associated disorders (PubMed).

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