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.


Opinion   |   By Dr Philippa Brice   |   Published 27 February 2012

The Department of Health has launched an inquiry after the Telegraph newspaper reported evidence that doctors at abortion clinics in the UK were prepared to terminate pregnancies on the grounds of foetal sex.

Undercover reporters went with women to clinics across the country requesting termination of pregnancy on the grounds that they did not want a child of that sex, and filmed some doctors agreeing to these requests. Sex selective abortion is illegal in the UK, with the exception of certain serious hereditary diseases that may affect only one sex, but doctors were apparently prepared to falsely claim legal grounds for termination (such as danger to the mother’s life, physical or mental health from continuation of pregnancy) despite being told the motive was sex selection.


Health Secretary Andrew Lansley MP said: "Sex selection is illegal and is morally wrong…I've asked my officials to investigate this as a matter of urgency". Royal College of Obstetrics and Gynaecology president Dr Tony Falconer also emphasised the need for doctors to comply with the law, adding: "Anecdotally, there are social and cultural reasons for preferring one gender over another and we need to know more about why these occur”.


Comment: The advent of early non-invasive prenatal technologies, or NIPD (see previous news) will arguably exacerbate existing problems with respect to sex selective abortion, which is apparently active even in countries with strict legal prohibitions and without widespread cultural beliefs that might support the practice. Legal expert Professor Hank Greely of Stanford University said such tests will greatly increase the number of fetuses aborted for mainly medical reasons, and sometimes for nonmedical reasons, like sex because it is so much easier to find out. And you find out faster”.


Technologies that offer medical promise may also raise issues of social and ethical concern that need careful thought. A free PHG Foundation seminar and discussion on 8 March (International Women’s Day) will examine this particular issue, including special reference to birth preferences in Asian countries and the likely impact of NIPD.

Opinion   |   By Dr Philippa Brice   |   Published 1 February 2012

The umbilical cord blood banking company, Virgin Health Bank, has announced a new partnership with Cambridge University Hospitals (CUH) NHS Trust, the first such deal between a private cord blood bank and an NHS hospital in the UK.


Virgin will be able to market their stem cell banking services to patients at the Cambridge maternity hospital. Women may purchase these services privately (exclusive personal storage of the cord blood) for £1695, or for £1195 donate the majority to the Virgin Health Bank's public resource, retaining a small sample for private use that is insufficient for transplantation; however, it is said to be possible that future technologies may allow this sample to be utilised as a treatment.


In return for this patient access, CUH will provide fee-based laboratory services to Virgin, and receive special access to stem cells in the public cord blood resource for research. CUH Medical Director Dr Jag Ahluwalia said: “This collaboration builds on our reputation as a leading centre for stem cell research, and is a wonderful opportunity to increase the access which patients have to potentially life-saving stem cell therapy”.


Comment: This looks to be a positive partnership in terms of generating revenue and enlarging the pool of cord blood stem cells available for research and potentially NHS transplantation. However, it is also an effective NHS approval for direct marketing of private stem cell banking services to women receiving antenatal care; the company emphasises that it aims to ‘empower’ rather than ‘pressure’ women, but concerns already raised about direct marketing to women within the NHS may equally apply here.

As of mid-2011, the Royal Colleges of Obstetricians and Gynaecologists (RCOG) and Midwives (RCM) officially support the practice of ‘medically directed and altruistic cord blood collection for public banking’ via the NHS Cord Blood Bank or Anthony Nolan Trust (which is free), but not private cord blood collection and banking. Is the altruistic research imperative sufficient to outweigh concerns about inappropriate marketing, promotion of services of limited (likely) medical benefit, and distraction of medical attention from mother and baby during delivery?

In the news

News story   |   By Dr Philippa Brice   |   Published 29 February 2012

Gene therapy has shown some benefit against a new rare disease target, chronic granulomatous disorder (CGD), which prevents normal immune responses against bacterial and fungal infections.


Great Ormond Street Hospital in London has reported that a teenager with CGD has shown a good response to gene therapy that introduced a functional gene to blood stem cells that were used to repopulate his own blood. Unlike earlier gene therapy successes with genetic immune disorders (see previous news), the treatment reportedly does not have such a long-term effect, but without it the patient was not expected to survive.


The latest result was announced on 29th February – the rare date selected as international National Rare Disease Day. The majority of rare diseases are genetic in origin and many are potential gene therapy targets, although the potential of the technique to treat more common forms of disease such as cancer or blindness is also being widely investigated.

Great Ormond Street is currently fundraising for a special Centre for Children's Rare Disease Research. 

Keywords : syndromesGene Therapy

Report of a story in the news   |   By Rebecca Bazeley   |   Published 29 February 2012

Nutrition in the womb may influence our health in later life, according to a study of women in the Gambia.

The research, led by Professor Nabeel Affara of University of Cambridge, showed that babies born to women whose diets were supplemented with micronutrients, showed gene modifications associated with normal development of the immune system. The modifications were recorded at birth and nine months later.  While the research does not show how nutrition affects gene modification, Professor Affara said the findings have “huge public health implications for regions of the world where food security is an issue”.  In Gambia, food is plentiful in the dry season but scarcer in the wet season.  Individuals born in the wet season have been found to be more susceptible to infection; now it seems that this might be because they lack protective epigenetic changes that spur immune system development.   Professor Affara added: "If we have an improved understanding of what nutrition is important and the mechanisms by which this important environmental factor interacts with gene function, we can target nutritional intervention to improve health in later life."

Our view:

There is increasing evidence that the prenatal environment can genuinely influence the long-term health of offspring, and that genetic mechanisms underlie these links. More work is needed to understand these processes, and their potential public health implications.

Keywords : genetics

News story   |   By Dr Philippa Brice   |   Published 28 February 2012

Researchers have launched a new catalogue of ‘loss-of-function’ (LoF) gene variants, which suggests that healthy individuals may have multiple completely inactive genes with no ill effects.

Part of the 1000 Genomes Project (see previous news) based at the Wellcome Trust Sanger Institute, the catalogue is intended to aid understanding of the function of human genes in health and disease; LoF variants (changes expected to completely disrupt normal gene function) can be associated with severe forms of inherited disease.


Analysis of 185 genomes from people of different ethnic origins suggested that of more than 3000 potential LoFs, more than a thousand were likely to have a genuinely severe effect on gene function; a typical person might have at least 20 such variants affecting both copies of the gene, effectively blocking the activity of that gene. Most of these LoF mutations were fairly common and did not appear to have harmful effects for the individual, although other more rare variants were identified that, if present on both gene copies, would cause significant disease.


Importantly, the researchers were able to develop algorithms to predict which mutations were most likely to be harmful, which could be of great value in searching for disease-associated genetic variants in the context of clinical whole genome sequencing.

News story   |   By Dr Philippa Brice   |   Published 24 February 2012

The beleaguered Myriad Genetics, besides facing ongoing legal battles over BRCA gene patents in the US (see previous news), now faces challenge in the Australian courts.


The Federal Court is hearing a case against Myriad and their exclusive Australian licence holder for BRCA1 mutation testing, Genetic Technologies, brought by the organisation Cancer Voices Australia in partnership with a cancer survivor, Yvonne D'Arcy.


They say that the BRCA1 patent is invalid on the grounds that it is a discovery as opposed to an invention; Myriad is contesting the suit.

Meanwhile, the Melbourne-based Genetic Technologies has taken steps towards launching their own breast cancer risk assessment test in the US; the test, which assays a selection of genetic variants, has received laboratory approval from the US Centers for Medicare and Medicaid Services. 

News story   |   By Dr Philippa Brice   |   Published 23 February 2012

New research has suggested that UK guidelines on genetic testing for breast cancer may need to be updated.


Cancer Research UK (CRUK) scientists analysed over 300 women with triple negative (TN) breast cancer and identified BRCA1 mutations in over 10% of them.


Current NICE guidance recommends that BRCA1 gene testing should be offered if the likelihood of detecting a mutation is over 20%; the researchers estimated that on this basis over one in three women with TN breast cancer caused by BRCA1 mutations would not be tested. This is significant because identifying such mutations not only informs medical care for the affected woman, but may also identify other family members at substantially increased risk of developing breast and associated cancers.


They therefore recommend that the guidance should be updated so that all women with TN breast cancer diagnosed under the age of 50 should receive BRCA1 testing, an estimated 1,200 additional tests per year.


CRUK lead clinician Professor Peter Johnson said: “The NHS needs to adapt so that tests for BRCA1 can be offered to women who are likely to carry the mutation. This approach will be cost-effective for the NHS in the long-term”.

Comment: Traditionally, analysis of the BRCA1 gene to identify mutations has been a very time-consuming and expensive process, because the gene is a large one and mutations may be present anywhere in the sequence. However, with the advent of rapid genome sequencing techniques this is becoming less of a problem – so with further evidence such as that of the CRUK researchers, it may indeed become advisable to revise testing guidelines. 

News story   |   By Dr Philippa Brice   |   Published 22 February 2012

DNA sequencing company Oxford Nanopore have announced the release of the smallest DNA sequencing machine yet produced, to go on sale later this year.


The size of a large USB stick, the handheld MinION sequencer uses the company’s nanopore-based strand sequencing technique. Launching alongside a larger GridION device with the same technological base, the company say that the smaller, disposable version will increase accessibility because it is to sell at a price below US$900, as well as being easy to use and transport.


It is anticipated that this may appeal to less specialist researchers who nevertheless wish to include some element of genome sequence data in their projects, without large-scale investment in equipment, although they would still need to analyse the genome data. Selected laboratories are to receive the device for trial purposes ahead of the product launch.

Oxford Nanopore Chief Executive Dr Gordon Sanghera described the MinION as “an absolute game-changer”, adding: “It’s plug-and-play, on-the-go DNA sequencing”. 

Keywords : DNA Technologies

News story   |   By Dr Philippa Brice   |   Published 21 February 2012

The UK's National Institute for Health and Clinical Excellence (NICE) has released a consultation document on the use of gene expression profiling as a guide to chemotherapy for breast cancer.


The diagnostics consultation reviews three gene expression profiling tests, MammaPrint, Oncotype DX and Mammostrat, as well as an immunohistochemistry test for the same purpose, IHC4. These tests are marketed as a guide to decision making on chemotherapy (in addition to surgery) for women with oestrogen receptor-positive, lymph node-negative, HER 2-negative early-stage breast cancer; some have been recommended in international cancer guidelines.


The document reports that NICE's Diagnostics Advisory Committee did not support the use of any of the gene expression profiling tests to decide for or against chemotherapy for breast cancer patients, due to a lack of convincing evidence of clinical effectiveness, and by extension cost effectiveness. This is despite a 2008 decision by the US Agency for Healthcare Research and Quality (AHRQ) that the Oncotype DX test did offer improved prognosis (see previous news). The committee  recommended that the IHC tests, whilst promising, should for the time being only be used in research settings

The proposed recommendations are at the consultation stage, with final guidance to follow. 

News story   |   By Dr Philippa Brice   |   Published 20 February 2012

A new study on the genomics of Alzheimer’s disease will look at genome sequences from 1000 Alzheimer’s patients, as well as healthy controls.


The New York Genome Center (NYGC), a collaborative genome sequencing and informatics initiative that brings together academic and clinical partners, will join with sequencing company Illumina and The Feinstein Institute for Medical Research for the new project. Illumina CEO and President Jay Flatley said the initiative would “enable a deeper understanding of the clinical application of genetics, along the path of improving human health".


It is hoped that, by identifying Alzheimer's disease susceptibility genes, the new knowledge from the project will improve individual disease risk prediction, as well as boosting development of earlier and more effective treatments – although without such treatments, the benefits of improved risk prediction is questionable.


Comment: The announcement follows publication of unrelated new research suggesting that mutations in genes linked to early-onset forms of Alzheimer’s are also present in the more common, late-onset form of disease; clearly, using genetic measures to improve risk prediction is not likely to be straightforward. However, this complexity underlines the need for more research data.

Report of a story in the news   |   By Rebecca Bazeley   |   Published 16 February 2012

 Three US patients with Leber's Congenital Amaurosis (LCA) are reportedly enjoying ‘dramatic’ improvements to their sight thanks to gene therapy.

The three have a rare inherited disease caused by mutations in more than ten different genes, which prevent normal function of the retina, the light-sensitive layer of cells at the back of the eye.   In the first stage of the clinical trial doctors injected one eye each of 12 patients with an engineered virus carrying the gene RPE65.  MRI scans showed the brain could ‘see’ the newly-treated eye. As sight improved, three of the patients received treatment in their other eye.   The researchers now hope to treat the second eye of the remaining nine patients, and extend the clinical trial. Principal investigator Dr Jean Bennett, said: "I think it will be a stepping stone to treating more common forms of blindness in both eyes".  

Our view:

Though these are very early stage results in just a few patients, they are highly encouraging, especially following on from similar promise shown by gene therapy for another rare genetic eye disorder, Choroideraemia (see previous news).

News story   |   By Dr Philippa Brice   |   Published 15 February 2012

The European Medicines Agency (EMA) has issued new guidance on the use of pharmacogenetic methods in evaluating medicinal products.


Our growing understanding of how genetic factors influence the way in which an individual may respond to medicines is collectively referred to as pharmacogenetics; genetics may affect drug absorption, distribution, metabolism, excretion and toxicity – the ADMET factors so crucial in drug development.


The new guidance for companies from the EMA’s Committee for Medicinal Products for Human Use (CHMP) will take effect from August 1, 2012. They propose that studies examining the pharmacogenetic impact on drug pharmacokinetics should be performed where variability between individual patients is high enough to influence the safety and/or efficacy of the drug. This possibility may be apparent from earlier studies that show either that genes subject to significant variation are involved in processing of the drug by the body, or that there is unexplained variability in patient response to the drug.

The guidelines also set out other situations where pharmacogenetic studies are advisable, proposals for the design and performance of such studies to reveal the impact of genetic differences in patients, and how to review drug dosing and labelling where appropriate. 

News story   |   By Dr Philippa Brice   |   Published 15 February 2012

Research has linked four new genes to risk of type 2 diabetes.


Published in the American Journal of Human Genetics, the research examined genetic variants in 2,000 genes involved in cardiac and metabolic function. Data came from multiple studies involving more than 17,000 people with type 2 diabetes and 70,000 controls without the disease, reportedly making it the largest combined study of genetic factors in type 2 diabetes to date.


These people were from multi-ethnic backgrounds, so the new genes identified as having a possible role in diabetes risk may be relevant for more ethnic groups than those previously identified in studies of people of European origin.

The results offer valuable insight into the genetic risk for type 2 diabetes in multiple ethnic groups and could help lead to new treatments, according to a journal news release. 

News story   |   By Dr Philippa Brice   |   Published 11 February 2012

A major new mechanism by which increased risk of coronary artery disease (CAD) is passed from fathers to sons has been identified.


Reporting in The Lancet, researchers who studied over 3000 men say they have identified a common Y-chromosome haplogroup that increases the risk of CAD by about 50%; a haplogroup is a block of related genetic variants that tend to be inherited together.


The haplogroup I form of the Y-chromosome associated with higher CAD risk is present in around 20% of British men. This new observation may help explain the higher rates of heart disease among men compared with women of the same age.


The basis of this genetic susceptibility is presumed to rest with Y-chromosome genes that are involved in inflammation and immunity, but more research will be needed to identify these genes and how variants may affect heart disease.


Comment: Presently, only medical and lifestyle indicators (eg. blood pressure, cholesterol levels, age and sex) are used for predicting risk of heart disease. In time, information on specific genetic risk factors may be able to improve risk prediction models

News story   |   By Dr Philippa Brice   |   Published 10 February 2012

US researchers have developed an innovative technique that uses stem cells to deliver an RNA interference (RNAi) based therapeutic for Huntington’s disease.


Huntington’s disease (HD) is an inherited form of adult-onset, severe progressive neurological condition that results in deteriorating physical and mental abilities. There is no effective treatment to prevent disease progression. Now, publishing in Molecular and Cellular Neuroscience, scientists report a new approach that could help slow or even halt disease progression.


RNA interference has previously been shown to be effective at reducing levels of the abnormal huntingtin (htt) protein that cause disease in mouse models; however, delivery of RNA therapies to the human brain is a difficult problem. The new technique used inhibitory RNA sequences inserted into stem cells from healthy donors; the resulting stem cells were injected to recipient nerve cells, with a resulting decrease in levels of the disease-linked htt protein.


Lead researcher Jan A. Nolta, of the UC Davis Institute for Regenerative Cures said: "Our team has made a breakthrough that gives families affected by this disease hope that genetic therapy may one day become a reality".

Comment:This research is at a fairly early stage, requiring further work, and also represents an expensive and invasive form of therapy. However, given the severity of HD and the current lack of effective treatments, it could indeed signal important progress for affected patients and families. 

Report of a story in the news   |   By Dr Philippa Brice   |   Published 9 February 2012

New research published in the journal Diabetologia suggests that the risk of birth defects is four times higher in pregnant women with pre-existing diabetes. 

Data from more than 400,000 UK pregnancies (including nearly 1700 diabetic pregnancies) show a significantly increased risk of conditions such as congenital heart disease and spina bifida. The risk rose from around 19 cases per 1000 births to 72 cases per 1000 births among diabetic mothers. Researchers noted the importance of good blood sugar control in the earliest weeks of pregnancy to minimise the risk of such abnormalities in the fetus. 

Our view:

Diabetes is known to be associated with various complications of pregnancy, but this latest finding is of additional public health relevance in the light of the rising levels of diabetes among women of child-bearing age in many countries around the world resulting from increasing overweight, obesity and type 2 diabetes

Keywords : diabetesBirth defects

News story   |   By Dr Philippa Brice   |   Published 8 February 2012

The US Presidential Commission for the Study of Bioethical Issues is examining ethical issues raised by whole genome sequencing, mores specifically on the proper use of genomic research data from clinical trials, with a particular focus on privacy issues.


The move from purely scientific research to more clinical analysis is raising concerns about new issues that may arise, including public privacy and confidentiality. The commission has been hearing expert views on the opportunities and issues for researchers and the public, neatly summarised by Professor George Annas of Boston University School of Public Health who said: "How can we support science and research and also protect individual privacy? I think it can be done".


Professor Daniel Masys from the University of Washington School of Medicine questioned whether it was “even ethical to allow our healthcare system to practice without a systems infrastructure for decision support”. Other issues included whether consent for the production and use of genomic data was any different from other forms of consent and whether it was acceptable to discard genomic data of unknown clinical significance.


The group is expected to hold further meetings throughout 2012 to consider the issues, before producing a final report.

Comment: This gathering of expert opinion to shape policy decisions with respect to genomic data is a useful exercise, though it would also benefit from a wider review of public concerns such as the current UK public survey being conducted by the Wellcome Trust (see previous news). Previous work has suggested that genome data does not raise fundamentally new ethical issues in clinical practice, but at the same time it is clear that rulings have to be made on matters such as incidental findings, feedback of data to research participants and health care providers, and so on. 

News story   |   By Dr Philippa Brice   |   Published 7 February 2012

Norway has taken the first steps towards creating a national cancer genomic diagnostics service.


The first clinical applications of next-generation sequencing (NGS) technologies have been widely reported in the medical literature, and many hospitals around the world are trialing different forms of NGS-based analyses. The Norwegian Cancer Genomics Consortium, a national health service collaboration ‘to establish and evaluate genome-based diagnostics for cancer therapy decisions, will perform tumour genome sequencing and analysis for 1000 cancer patients (and 3000 stored samples), in a pilot study to determine whether this information can help inform better treatment decisions.


The programme mirrors similar efforts such as the UK’s stratified cancer medicine  project led by Cancer Research UK (see previous news); however, the Norwegians plan to move on to a second phase that will create the laboratory, clinical and bioinformatics infrastructure to roll this approach out to all cancer patients in the health system, some 25,000 annually. This will include creation of a national cancer mutation database, in partnership with the national cancer registry.

Comment: The research evidence (to demonstrate potential improvements in care and outcomes) is a crucial base for moving new technologies such as genome sequencing into clinical practice, but the Norwegian approach is wise to take account of other equally vital considerations such as having nationally agreed protocols and systems to handle and process new testing and data, as well as efforts to underpin health professional and public education, and provide health economic impact data. These are precisely the sorts of measures recently recommended for the clinical implementation of genome sequencing for both cancer and inherited disease services in the UK by the PHG Foundation. 

News story   |   By Rebecca Bazeley   |   Published 6 February 2012

In spite of positive results yielded from dozens of gene therapy trials, to date neither Europe nor the US has given the go ahead for routine use of a single form of gene therapy in the clinic.


All this may be about to change as calls, and actions, to give patients “the treatments they deserve” gain momentum. A commentary in Human Genome Therapy by Dr James Wilson, argues that early indications of gene therapy as a viable treatment for haemophilia B, and potentially haemophilia A, indicate the time is ripe for the commercial development of such therapies.


However, he acknowledges the caution of commercial developers of these disruptive technologies who need to find new business models that will sustain them in what are, at least for the time being, niche markets.

One biotechnology organisation that is ramping up its activity in the field is French not-for-profit, Genethon. The institute has recently taken the decision to manufacture clinical-grade viral vectors. Access to vectors is currently a major bottleneck in moving gene therapies into the clinic. Genethon’s new Scientific Director, Fulvio Mavilio says the aim is to make the institute “a major hub for gene therapy networks”.  

Keywords : Gene Therapy

News story   |   By Dr Philippa Brice   |   Published 3 February 2012

New research published in Nature Genetics has identified a substantially increased risk of type 2 diabetes for people with rare genetic mutations in the melatonin receptor 1B gene, MTNR1B.


Melatonin is known as the ‘body clock’ hormone; it controls the cycle of sleep and wakefulness via processes including the control of insulin release and blood sugar levels.


Previous research had shown an increased risk for type 2 diabetes among carriers of certain common variants in the MTNR1B gene. Now, a much greater effect has been seen for rarer mutations; forty different different mutations were identified in a sample of nearly 8,000 people, of which four were severe, completely disabling the receptor.


These mutations were analysed in a further sample of nearly 12,000 people. Overall, over 8,000 people with type 2 diabetes and 10,000 without the disease were examined for these four mutations. The presence of any one mutation was found to increase the risk of type 2 diabetes six-fold.

Comment: It is suggested that these mutations may interfere with the effect of melatonin on the release of insulin (and hence normal control of blood glucose levels), or on control of normal circadian rhythms. Drugs that stimulate the melatonin receptor, currently used to treat sleep disorders and depression, may therefore be beneficial for type 2 diabetes. Researchers also hope that understanding such mutations may lead to improved disease risk assessment by incorporating genetic data. 

News story   |   By Rebecca Bazeley   |   Published 1 February 2012

As we begin to understand the way genes impact on individual responses to prescribed therapies, current guidelines on the evaluation of medicines for clinical use may need updating.


The European Medicines Agency is seeking comments on its concept paper, which sets out a proposal to develop guidelines on the influences genomic information should have on pharmacovigilence activities.  These include the systematic consideration of the effects of genetic variability in safety monitoring of medicines, the use of biomarkers, the timing of the monitoring of genomic data and the information that should be provided in medicines' product information.

The consultation is open for comments until 15 March 2012. Comments should be sent to using the form for submission of comments.


Report of a story in the news   |   By Dr Philippa Brice   |   Published 2 February 2012

A resolution could finally be in sight for the contested BRCA1 and BRCA2 gene patents held by company Myriad Genetics in the US (see previous news).

The American Civil Liberties Union (ACLU) and Public Patent Foundation (PUBPAT) petitioned the US Supreme Court and Myriad has now filed an official response, meaning that the case could come before the court later in 2012. Although only a minority of petitions are taken up by the court, this is a high profile case with potentially profound implications for human gene patenting, so there is a fair chance it will be taken further.

Our view:

Daniel Ravicher, executive director of PUBPAT, said: “Many scientists believe this case to be about critical questions of patient care and social policy. The decisions made in the lower court were highly fractious so this is precisely the kind of case the Supreme Court should hear”.

Keywords : BRCA GenesPatents & IP

New reviews and commentaries

New reviews and commentaries, 2 February 2012

Reviews & commentaries : by Dr Philippa Brice

Rare and common variants: twenty arguments.

Gibson G. Nat Rev Genet. 2012 Jan 18;13(2):135-45. 


Genomics and perinatal care.

Bodurtha J, Strauss JF 3rd. N Engl J Med. 2012 Jan 5;366(1):64-73. 


Genomics: The path to retinoblastoma.

Sage J, Cleary ML.Nature. 2012 Jan 18;481(7381):269-70. 


Fertile union.

Nature. 2012 Jan 25;481(7382):410.


Unwrapping the implications of BRCA1 and BRCA2 mutations in ovarian cancer.

Hyman DM, Spriggs DR. JAMA. 2012 Jan 25;307(4):408-10


Diagnosis and management of thalassaemia.

Peters Met al.BMJ. 2012 Jan 25;344:e228.



Higgs DRet al.Lancet. 2011 Jan 28. 379(9813): 373-383.


The family history: the first genetic test, and still useful after all those years?

Pyeritz RE. Genet Med. 2012 Jan;14(1):3-9.


Protein-RNA interactions: new genomic technologies and perspectives.

König J et al. Nat Rev Genet. 2012 Jan 18;13(2):77-83. 


Knowledge as a key resource for health challenges

Antes G, Clarke M. Lancet. 2012 Jan 21;379(9812):195-6


Translational research and experimental medicine in 2012

Lancet 7 Jan 2012 379(9810):1


Global health in 2012: development to sustainability

Lancet. 2012 Jan 21;379(9812):193. 


How can we stimulate translational research in cancer genomics beyond bench to bedside?

Schully SD, Benedicto CB, Khoury MJ. Genet Med. 2012 Jan;14(1):169-70.


The genome of a blood fluke associated with human cancer.

Mitreva M. Nat Genet. 2012 Jan 27;44(2):116-8.


Developing predictive molecular maps of human disease through community-based modeling.

Derry JM et al. Nat Genet. 2012 Jan 27;44(2):127-30. 


Experimental cancer therapies move to the front line

Couzin-Frankel J. Science. 2012 Jan 20;335(6066):282-3.


Cell biology. The risk of prion zoonoses.

Collinge J.Science. 2012 Jan 27;335(6067):411-3.


Neonatal screening for lysosomal storage disorders.

Fletcher J, Wilcken B. Lancet. 2011 Jan 28. 379(9813): 294-295. 

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