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 29 April 2011

Germany is considering alternative proposals for a new law on the use of preimplantation genetic diagnosis (PGD).

Three proposed bills were introduced to the Bundestag this month; one would create a legal ban on all use of the technique. The second bill would permit PGD where there is a risk of severe forms of inherited disease, or of significant complications of pregnancy, and the third bill is similar to the second but would require case-by-case approval for PGD from an ethics commission.

 

The move follows pressure for clarification of the legal position with respect to PGD; the German National academy of sciences Leopoldina has officially called for the use of PGD to prevent serious diseases to become legal (see previous news), but the opinion at the German Ethics Council is split, with a significant minority saying that  the practice is not ethically justified and should be prohibited.  

 

Whilst many conservative politicians including Chancellor Angela Merkel agree with this position, proponents of PGD at the German Ethics Council said that is was more morally acceptable to use PGD than to abort fetuses affected by genetic diseases, which is legal.

Comment: German policy typically adopts a highly conservative position with respect to bioethical issues, but the existing discrepancy whereby termination of pregnancy on medical grounds is legal but PGD is not, technically, is finally causing many to reconsider their views. A final vote on the issue is expected in June this year, but which way it will go remains unclear. 


News story   |   By Rebecca Bazeley   |   Published 21 April 2011

The world's first anatomically and genetically detailed map of the human brain is now available.

 

The US-based Allen Institute for Brain Science has created an interactive three-dimensional atlas that is freely available atwww.brain-map.org as a resource for the study of brain diseases. The map combines imaging with biochemical, physiological and genetic data to provide a map of gene activity; it has already been shown that at least 82 percent of all human genes are expressed in the brain.

 

This new resource includes computational tools to help scientists analyse the data for genetic clues to conditions such as Alzheimer's disease, autism and mental-health disorders like depression. They will also be able to pinpoint where a drug acts in the brain, which could help improve outcomes for a number of therapies.

 

So far, the atlas features only male brains; researchers expect to add eight more brains to the archive by the end of next year, including at least one female brain. 


News story   |   By Dr Philippa Brice   |   Published 20 April 2011

The Human Fertilisation and Embryology Authority (HFEA) has said that further experiments are required to demonstrate the safety of new techniques to prevent mitochondrial diseases by so-called ‘three parent IVF’.

 

Responding to a government request for expert opinion (see previous news), the HFEA panel examined three different methods. They concluded that the legal technique of pre-implantation genetic diagnosis (PGD) is ‘suitable for some, but not all, patients who suffer from mutations in their mitochondrial DNA’ and can only reduce (as opposed to prevent) the risk of transmission.

 

The other two techniques, maternal spindle transfer and pronuclear transfer – which are not currently legal - were found to be ‘potentially useful for a specific and defined group of patients whose offspring may have severe or lethal genetic disease, and who have no other option of having their own genetic child’. However, the panel adopted a cautious view, suggesting that further research is required into the safety of the techniques.

 

They propose a series of specific experiments as necessary to demonstrate a satisfactory level of safety, whilst bearing in mind that the move from research to clinical practice ‘always involves a degree of uncertainty’. These essential experiments are to check that human embryos develop normally following use of the techniques, and that baby primates produced using the technique (the closest animal proxy for humans) appear normal. Additional, desirable experiments are also proposed.

 

Comment: Although the experts express optimism that the techniques will indeed prove useful in preventing severe mitochondrial disease, they have taken a prudent approach in calling for more evidence before trials in humans should proceed.

Proponents of the techniques have called for the government to begin timetabling and preparing the legislative changes that would be required to make such trials legal, to speed up the anticipated clinical trials. This has some merit, but there is still the possibility that evidence of safety is not as easy to obtain as hoped; indeed, whilst unlikely, it may be that the current techniques are not safe enough. Perhaps a compromise would be suitable, where plans for legislative change follow closely, but do not anticipate, experimental schedules and outcomes. 


News story   |   By Dr Philippa Brice   |   Published 18 April 2011

The final report from the US Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS) has been released, outlining recommendations for the genetics education of clinical and public health professionals, patients and the public.

 

The SACGHS charter officially ended on 28 February 2011, following a final meeting in October 2010 (see previous news). This last report, Genetics Education and Training, is the result of a three year investigation including public consultation, and makes key recommendations to the Department of Health and Human Services (HHS), including:

  • A task force to identify ‘innovative approaches to prepare health professionals for the genomic age’
  • Mechanisms to ensure genetics is incorporated into electronic health records, and health professional training and accreditation
  • Strategies for consumer and patient education about genetic knowledge relevant to health decisions
  • An internet portal to facilitate access to ‘comprehensive, accessible, and trustworthy web-based genetic information and resources’ for consumers
  • Improved use of family history tools

It is additionally suggested that genetics education and training needs should be re-evaluated ‘within 5 years’.

Comment: The task of ensuring that the evolving educational needs of health professionals and the public with respect to genetics and health are met over the coming years is an immense challenge. The report proposes that, without the SACGHS, responsibility for implementation of these recommendations should pass to federal bodies such as the Agency for Healthcare Research and Quality, Centers for Disease Control and Prevention, and the National Institutes of Health. The danger is that, without suitable oversight and coordination, efforts may be fragmented and their impact necessarily reduced. Bodies such as the National Coalition for Health Professional Education in Genetics could play an important role, but tackling patient and consumer education is another major hurdle.

 



Report of a story in the news   |   By Dr Philippa Brice   |   Published 11 April 2011

The Association of British Insurers (ABI) has announced another extension of an existing moratorium on the use of genetic test results for insurance purposes. 

First established in 2001, the agreement between the ABI with the UK Department of Health means that individuals are not obliged to disclose the results of predictive genetic tests to insurers. The Concordat and Moratorium on Genetics, last renewed in 2008 until 2014 (see previous news), has now been extended further to 2017; the next review will take place in 2014.The exceptions to this agreement remain unchanged: life insurance policies in excess of £500,000 (around 3% of all policies), and only for government approved genetic tests – there is only one of these, for Huntington’s Disease. 

Our view:

The UK’s approach to genetic testing and insurance appears to be functioning well, with insurers not apparently thirsting for genetic information about applicants in order to inform decision making. Of course, this relates to life insurance as opposed to health insurance, which is a key focus of the US Genetic Information Non-discrimination Act (GINA). The National Health Service in the UK means that health insurance is not an essential requirement for medical care.


Report of a story in the news   |   By Dr Philippa Brice   |   Published 10 April 2011

A panel for the US Federal Court of Appeals, which rules on issues of intellectual property, is examining whether patenting of human gene sequence should be allowed to continue.

The long-running legal battle arising from disputes over patents for the BRCA1 and BRCA2 genes held by Myriad (see previous news) could result in fundamental changes to intellectual property relating to human gene sequences; last year the US government said that such patents should not be permitted even for isolated DNA sequences (see previous news). Now the panel judges have been debating whether or not such patents should ever have been granted, and whether revoking them would produce a change so dramatic that it could destablise the biotechtology industry. 

Our view:

The dispute is expected to reach the US Supreme Court eventually, with the outcome remaining far from clear;  the potential rift between the US Justice Department and Patent and Trademark Office continues. Certainly, the pressure for a change in gene patenting is rising; commentator Dan Vorhaus notes the potential for conflict given the rise of whole genome sequencing technologies and their application for all kinds of personalised medicine.

Keywords : Legal IssuesUSBRCA Genes

Report of a story in the news   |   By Dr Sowmiya Moorthie   |   Published 7 April 2011

The Human Genetics Commission (HGC) has published a report and recommendations on preconception genetic screening. Issues that need to be considered prior to the implementation of specific preconception screening programmes as well as conditions that should be met for such programmes to be socially and ethically acceptable are outlined in the report.

The report and recommendations were developed by an expert working group following a request for advice from the UK National Screening Committee (UK NSC). Testing undertaken to inform reproductive decision making as well as management of genetic information acquired from other sources such as routine antenatal tests were considered. The report supports preconception screening programmes and states that “there are no specific social, ethical or legal principles that would make preconception genetic testing within the framework of a population screening programme unacceptable”. The recommendations include making testing available to all those who may benefit from it and offering preconception screening for genetic conditions in situations where it is offered as part of an antenatal screening programme. In addition, they recommended that information should be made available through a variety of sources and that children and young people should be educated about antenatal and preconception screening in the final years of compulsory schooling. The report also stresses that development of such programmes should not detract from the provision of treatment and support of affected individuals.

Our view:

Preconception genetic testing identifies carriers of genetic mutations responsible for a range of genetic conditions and has the advantage of identifying at-risk individuals at a point when they have the widest range of personal and reproductive choices. Such tests could either be offered to specific groups where there is a high risk of a particular condition or to the general population for a range of conditions. Currently it is only offered to those who are known to be at high risk of being a carrier for a genetic condition or in the form of locally organised screening programmes for conditions such as Tay-Sachs disease, however, access to testing is variable. Population screening programmes can help ensure equity in access to such tests but this requires individuals to engage early with reproductive health services. In addition, as with any other population wide screening programme, the benefits and harms of any preconceptual test will need to be evaluated against the NSC criteria. An important point of note from the report is that there are no ethical reasons not to offer a preconception test if a test for the same condition is already offered antenatally. In fact, given that one of the primary purposes of giving genetic information for reproductive purposes is to enable autonomous choice, there may actually be good ethical reasons to do so.


Report of a story in the news   |   By Dr Sowmiya Moorthie   |   Published 5 April 2011

The US Secretary's Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the ‘core’ conditions on the newborn screening panel in 2010 (see previous news).  Following a pilot programme, California has now introduced routine screening for SCID using a simple PCR assay developed by UCSF researchers.

SCID is a term used to refer to a group related disorders characterised by the absence of T-lymphocytes, essential components of the immune system.  The PCR assay developed by UCSF researchers detects circular DNA that has been isolated from dried blood spots. As circular DNA is a by-product of T-lymphocyte receptor formation, its absence suggests a lack of lymphocytes. If this is found to be the case, further investigations can be performed to confirm a diagnosis of SCID.

Our view:

Children with SCID have no effective immune responses and are highly vulnerable to  infections that would be harmless in a healthy person; early detection by newborn screening can help secure prompt treatment and protection from infection. Treatments such as bone marrow transplantation and gene therapy can cure the disease (see SCID.net), though these therapies are not without risks (see previous news).


News story   |   By Dr Philippa Brice   |   Published 4 April 2011

Recruitment begins today (4th April 2011) for the Deciphering Developmental Disorders (DDD) Project, a collaborative venture between the Wellcome Trust Sanger Institute and all 23 UK NHS Clinical Genetics Services.

 

The DDD project is intended to improve diagnosis and care of developmental problems in children with underlying genetic causes, by collating and analysing genomic data along with medical information to identify key changes linked to developmental disorders. It builds on the international DECIPHER database (see previous news) established in 2004 at the Wellcome Trust Sanger Institute to help doctors link rare genetic changes to specific medical problems.

 

12,000 children either born with multiple malformations or displaying serious physical or mental developmental delay will be recruited to the DDD Project over the next five years, and their DNA analysed using rapid whole genome sequencing and DNA microchip technologies. This should allow more in-depth investigation than current clinical methods, and identify new genetic changes linked to the developmental problems, creating simultaneously a national resource accessible to all clinical genetics services. The hope is that this will make it possible to rapidly identify genetic causes of developmental disorders much more often than is currently possible.

 

Consultant Clinical Geneticist Dr Helen Firth said that the project offered “a win-win-win to patients, clinicians and scientists alike” by affording new opportunities not only for diagnosis and care, but also research into treatments. It will additionally include consideration of ethical and social issues arising from the use of these new and more powerful methods for diagnosis for patients, families and health professionals.

Comment: This is a showcase research project that should both advance science and medical knowledge whilst simultaneously bringing rapid benefits to patients. A prompt and accurate diagnosis of a genetic cause of a developmental disorder can be important for informing medical care of the affected child, for removing the need for other lengthy medical investigations, and for helping the family to understand why a child has been affected and risks to future children. 


Research articles

Analysis of a study published in a science journal   |   By Dr Sowmiya Moorthie   |   Published 28 April 2011
Study: Enterotypes of the human gut microbiome
By: et al. (4 authors total)
In: Nature
Link: http://dx.doi.org/10.1038/nature09944
What this study set out to do:

The composition of gut bacteria varies between individuals (see previous news), the aim of this study was to investigate if there were similarities and differences in the composition of gut bacteria between different populations from around the globe.

How they went about it:

Metagenomes from faecal samples of 39 individuals from three continents (Europe, Asia and America) were sequenced and analysed. The DNA sequences were compared to reference genomes to classify the types of bacteria and identify bacterial genes and their function. The same analysis was carried out on published data sets from 154 American and 85 Danish individuals to confirm the initial findings.

Outcome:

All the individuals studied could be divided into one of three groups or enterotypes depending on the species of bacteria that occurred in high numbers; furthermore, each of the enterotypes could be linked to different preferences in terms of the nutrients they processed. The segregation of enterotypes was not dependent on factors such as ethnic background, age and gender. However, the analysis seemed to indicate that functional composition of the bacterial genes may correlate with factors such as age and BMI. For example, microbial genes involved in carbohydrate breakdown were more prevalent in older people than younger.

Conclusion:

The study has identified three gut microbiome enterotypes that vary in relation to species and functional composition between individuals. Further research is needed to see if more enterotypes exist and if there is a correlation between each of these groups and environmental or genetic factors, in order to understand what leads to these differences. A greater understanding of the correlation between bacterial markers such as genes and individual features (e.g. age, weight) may lead to diagnostic or prognostic tools.

Our view:

This study improves understanding of the similarities and differences between human gut microbiomes, though further research confirming these enterotypes in much larger population sets will be needed. More knowledge about bacterial markers and their correlation with health and disease could eventually lead to useful medical applications.


Analysis of a study published in a science journal   |   By Dr Philippa Brice   |   Published 27 April 2011
Study: Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene
By: et al. (22 authors total)
In: The Journal of the American Medical Association
Link: http://dx.doi.org/10.1001/jama.2011.497
What this study set out to do:

Use whole-genome sequencing (WGS) to identify underlying genetic changes in a leukaemia patient rapidly enough to inform clinical decision-making 

How they went about it:

A patient in her thirties presented with a complex form of leukaemia. Clinicians were not able to determine which of two alternative types of disease was present, and hence which follow-up treatment to use. WGS was used to analyse tumour and normal skin cells from the patient in an attempt to provide a clear guide to treatment within 6-8 weeks.

Outcome:

The analysis revealed the presence of a mutation that had created an oncogenic fusion gene driving the leukaemia. Understanding the underlying molecular genetics of the cancer suggested that an alternative medical treatment was preferable, and the patient received chemotherapy rather than a stem cell transplant. 

Conclusion:

WGS not only identified the key mutation of interest, but also all other mutations detected by standard means, and within a clinically relevant time-frame. It should soon be feasible to further reduce this to around 4 weeks. However, use in a normal medical context would require clinical standardisation of analysis and reporting. 

Our view:

This study looks at a new aspect of WGS analysis for clinical purposes, taking into account speed of reporting. In leukaemia the ideal follow-up treatment depends on the exact type of disease, but it must begin within a few weeks of the initial diagnosis and treatment, so time is of the essence. WGS could become a transformative tool in clinical cancer care, especially for complex cases, but the authors are right to differentiate between research and clinical settings, as the latter places new demands not only in terms of quality control, but also health professional education and communication. 


Analysis of a study published in a science journal   |   By Dr Philippa Brice   |   Published 26 April 2011
Study: Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML
By: et al. (32 authors total)
In: The Journal of the American Medical Association
Link: http://dx.doi.org/10.1001/jama.2011.473
What this study set out to do:

Use whole-genome sequencing (WGS) to investigate possible cancer susceptibility mutations in a patient with early onset breast and ovarian tumours and therapy-related leukaemia, who had no family history of cancer or BRCA1/2 mutations. 

How they went about it:

The patient unfortunately died shortly after presentation with leukaemia, but researchers obtained consent to analyse samples of bone marrow and skin for a range of possible mutations (from single base changes to copy number variations and chromosomal abnormalities) using whole-genome sequencing, as well as the techniques SNP genotyping, gene expression profiling, and spectral karyotyping

Outcome:

A novel germline mutation was found in the known tumour suppressor gene TP53, and this was shown to prevent normal function of the TP53 protein. This deletion mutation was presumed to be de novo (a new mutation in the patient) as it was not present in the patient’s mother; the father’s DNA was not available for analysis, but there were no cancer cases among his near relatives. The leukaemia genome also showed a range of chromosomal abnormalities, many of them novel. 

Conclusion:

The patient’s presentation and family history did not suggest Li-Fraumeni syndrome (a rare form of cancer susceptibility, often arising from TP53 mutations), so she had received TP53 testing; however, WGS revealed a germlineTP53 mutation. This has important clinical implications for the patient’s three children; if they have inherited the mutation, they will have a risk of around 50% of cancer before the age of 40, making screening to allow early detection and treatment very important. 

Our view:

Examples of the clinical utility of WGS for patients with serious and unexplained diseases are rapidly increasing. This case is interesting because it shows the value that a whole-genome approach could offer over current, targeted forms of genetic analysis to identify mutations (especially as costs fall), and additionally the potential medical benefits to the patient’s family. Fortunately, the researchers had included an option to communicate clinically relevant information to family members in their consent documents, because it will be important for a health professional to explain the potential risks to them. 


Analysis of a study published in a science journal   |   By Dr Sowmiya Moorthie   |   Published 21 April 2011
Study: Exome sequencing identifies GRIN2A as frequently mutated in melanoma
By: et al. (15 authors total)
In: Nature Genetics
Link: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.810.html
What this study set out to do:

To gain an understanding of the genetic alterations present in metastatic melanomas (a type of skin cancer) and identify potential targets for therapy.

How they went about it:

Exomes of 14 metastatic tumours and matched normal control were sequenced and analysed to identify potential cancer-associated variants. Analysis involved comparison of tumour exomes with normal exomes, as well as against the dbSNP database and 1000 genomes project data to identify tumour specific variants. Further bioinformatics analysis and comparison between tumour exomes to identify recurrent variants was carried to narrow the number of candidate genes.

Outcome:

The study identified 68 genes that showed higher frequencies of mutations; some of these had already been associated with skin cancer, but the majority had not been reported previously.  Many mutations affected genes involved in the glutamate signalling pathway. The authors were also able to identify a new recurring genetic alteration in the TRRAP gene.

Conclusion:

The study provides the most complete analysis of melanoma exome alterations to date and may lead to identification of potential therapies, especially as targeting the glutamate pathway has been shown to limit tumour growth.

Our view:

Malignant melanoma is the most aggressive form of skin cancer, and one for which new therapeutic options would be highly valuable. Studies such as these help improve our understanding of the disease, which can ultimately lead to improved treatments. Further work comparing mutations in metastatic and other forms of tumour may also enhance our understanding of this condition.


Analysis of a study published in a science journal   |   By Dr Philippa Brice   |   Published 19 April 2011
Study: Parents' Attitudes Toward Pediatric Genetic Testing for Common Disease Risk
By: et al. (6 authors total)
In: Pediatrics
Link: http://pediatrics.aappublications.org/cgi/content/abstract/peds.2010-0938v1
What this study set out to do:

To describe parental attitudes towards genetic testing of children for common, adult-onset health conditions and examine factors underlying these views. 

How they went about it:

Adults were offered a test for genetic variants associated with increased risk for eight common health conditions, including type 2 diabetes, and forms of cancer and cardiovascular disease. 219 of those who reported having children under 18 completed an additional survey about their attitudes and beliefs about theoretically using the same test for their children; just over half of these parents said they intended to accept the offer of genetic testing for themselves. 

Outcome:

Parents showed moderate interest in testing and generally thought that the benefits of genetic testing for their children would outweigh the  risks. They were equally interested in information about the impact of genetic and behavioural factors on health. Theoretical willingness to test children was greater among mothers than fathers, and among those who thought their children’s risk of the diseases was higher. 

Conclusion:

Parents showed general willingness to have children tested, despite a lack of evidence on the actual risks, benefits and utility of genetic testing for common preventable health conditions. Health care providers and regulators should take this into account.

Our view:

This study is a small one and has significant limitations, but it raises interesting issues around the potential future role of genetic susceptibility testing for common diseases among children. Lead author Kenneth Tercyak commented: “We still need to learn more about how to support families regarding choices on genetic tests and in adopting lifestyle changes, and what role high quality genetic information could play in those conversations" (see press release). However, many others would be strongly opposed to genetic testing of children for adult-onset conditions. One key question would be whether, if testing of this kind could offer genuine benefit for disease prevention, could testing in the under-18s provide additional benefit? In the shorter-term, the issue of whether parents will want testing in the belief that it does offer health benefits is likely to be a more pressing issue for policy-makers. 


Analysis of a study published in a science journal   |   By Dr Anna Pokorska-Bocci   |   Published 14 April 2011
Study: ApoE isoform-specific regulation of regeneration in the peripheral nervous system
By: et al. (11 authors total)
In: Human Molecular Genetics
Link: http://dx.doi.org/10.1093/hmg/ddr147
What this study set out to do:

To investigate effects of two of the three forms of the human apoE protein (apoE3 and apoE4) on the form and function of a healthy and degenerating peripheral nervous system (PNS) using mouse models.  

How they went about it:

The researchers expressed human apoE3 and apoE4 in mice lacking other apoE proteins. Proteomic screens were used to examine protein networks involved in cellular growth and regeneration and the blood-nerve barrier in mice expressing apoE3 and apoE4, with healthy and injured peripheral nervous systems.

Outcome:

Healthy nerves were not affected by the expression of either apoE3 or apoE4. In mice expressing human apoE4, a significant delay in nerve regeneration was observed on injured peripheral nerves. However, there was no effect of apoE4 on neurodegeneration, a process known to be modulated by apoE4 in the central nervous system (CNS). 

Conclusion:

The most significant observation of this study was the negative effect of apoE4 on nerve regeneration and neuromuscular reinnervation in the injured PNS. There results are consistent with the previously reported association between the APOE4 human genotype and the risk of progressive diseases of the PNS, including diabetic and HIV-associated neuropathies. 

Our view:

The APOE4 gene variant is known to be associated with degeneration in the CNS, and is a risk factor for Alzheimer’s disease (see previous news); this new study provides insight into the role of the ApoE4 protein in diseases of the peripheral nervous system and aids the search for new treatments. Genetic testing for APOE4 (see previous news) could potentially become an element of personalised medicine, informing doctors about individual patient’s prospects for recovery from nerve injuries and diseases


Analysis of a study published in a science journal   |   By Dr Gurdeep Sagoo   |   Published 13 April 2011
Study: Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
By: et al. (175 authors total)
In: Nature Genetics
Link: http://dx.doi.org/10.1038/ng.803
What this study set out to do:

To identify new common susceptibility loci associated with Alzheimer’s disease

How they went about it:

The researchers undertook a three-stage genetic association study based largely on individuals of European descent and combined all data in a meta-analysis. Stage 1 involved a meta-analysis of four genome-wide association study datasets involving 6,688 patients and 13,685 controls, with stages 2 and 3 involving genotyping in over 13,000 patients and 26,000 controls. A final meta-analysis was conducted including data from nearly 20,000 patients and 40,000 controls.

Outcome:

The meta-analysis in stage 1 identified 61 associated SNPs of which 12 (10 novel and 2 previously implicated) were taken forward for replication in stage 2. Five were again associated in stage 2 and three showed further evidence of replication in the stage 3 samples. Data from all three stages combined in a meta-analysis showed association for five genes (ABCA7, MS4A6A, MS4A4E, CR1 and BIN1). The researchers also combined their data with data from the Alzheimer’s disease genetic consortium (in an accompanying paper in Nature Genetics) in a meta-analysis and found association with 3 further genes (CD2AP, CD33 and EPHA1).

Conclusion:

The study, taken together with the results from the Alzheimer’s disease genetic consortium, shows compelling evidence for five new Alzheimer’s disease susceptibility loci (counting MS4A6A and MS4A4E as one), as well as evidence for two previously implicated loci, CR1 and BIN1, at genome-wide statistical significance levels. These genes have functions in the immune system, cell membrane, or are involved in lipid processing and could play roles in disease pathogenesis and as such should help to focus future research. 

Our view:

This well conducted study from a large European-American consortium highlights the benefits of collaborative work in identifying novel common variants, each of which confers a small increase in Alzheimer’s disease risk. Although genes involved the immune system and the way in which the brain processes cholesterol and fats have been implicated previously, a process called endocytosis has strongly been implicated for the first time. A better understanding of the disease process may allow the development of effective treatment, although a vast amount of work is still required before clinical benefits can be realised.


New reviews and commentaries

Selected new reviews and commentaries, 1 April 2011

Reviews & commentaries : by Dr Philippa Brice

The hunt for the mystery genes

Watts G. BMJ. 2011 Mar 9;342:d1463.

 

Opening the Pandora's box of prenatal genetic testing

Nat Med. 2011 Mar;17(3):250-1. 

 

Physicians as guardians of genetic knowledge

Lancet 377(9770):967, doi:10.1016/S0140-6736(11)60367-X

 

Genomics and drug response.

Wang L, McLeod HL, Weinshilboum RM. N Engl J Med. 2011 Mar 24;364(12):1144-53. 

 

The case for a global rare-diseases registry

Forrest CB et al. Lancet. 2010 Jul 30. [Epub ahead of print]

 

Cancer genomics: from discovery science to personalized medicine

Chin L, Andersen JN, Futreal PA. Nat Med. 2011 Mar;17(3):297-303.

 

The challenge of cancer

Alberts B. Science. 2011 Mar 25;331(6024):1491. 

 

Exploring the genomes of cancer cells: progress and promise.

Stratton MR. Science. 2011 Mar 25;331(6024):1553-8.

 

New epigenetic drivers of cancers.

Elsässer SJ, Allis CD, Lewis PW. Science. 2011 Mar 4;331(6021):1145-6. 

 

Stem cells: The dark side of induced pluripotency.

Pera MF. Nature. 2011 Mar 3;471(7336):46-7. 

 

Genetic testing and youth sports

Brooks MA, Tarini BA. JAMA. 2011 Mar 9;305(10):1033-4. 

 

The value of data.

Mons B et al.Nat Genet. 2011 Mar 29;43(4):281-3.


The generation game.

Nature. 2011 Mar 3;471(7336):5. 

 

Next-generation association studies for complex traits.

Zeggini E. Nat Genet. 2011 Mar 29;43(4):287-8.

 

Investigating monogenic and complex diseases with pluripotent stem cells.

Zhu H et al. Nat Rev Genet. 2011 Apr;12(4):266-75. 

 

Newborn screening for α-thalassemia - keeping up with globalization

Benz EJ Jr. N Engl J Med. 2011 Feb 24;364(8):770-1.

 

Schizophrenia: Zooming in on a gene.

Piggins HD. Nature. 2011 Mar 24;471(7339):455-6.

 

Autism spectrum disorders - a genetics review

Miles JH. Genet Med. 2011 Feb 24. [Epub ahead of print]

 

The quest for genetic risk factors for Crohn's disease in the post-GWAS era

Fransen K et al. Genome Med. 2011 Feb 25;3(2):13.

 

Patients' safety for global health

Yang GZ, Kelley E, Darzi A. Lancet. 2011 Mar 12;377(9769):886-7. 

 

Stopping RNA interference at the seed.

Rossi JJ. Nat Genet. 2011 Mar 29;43(4):288-9.

 

Biobanks need publicity

Gaskell G, Gottweis H. Nature. 2011 Mar 10;471(7337):159-60.

read more ...