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 September 2011

The Faroe Islands, a self-governing group of islands within the Kingdom of Denmark, are to become the world’s first nation offering full genome sequencing to every citizen.


All 50,000 inhabitants will have the opportunity to participate in the new FarGen project, which will link genome sequence data to individuals’ health records, and assess whether this will allow personalised medicine, with doctors using genetic information to guide disease prevention and choices of treatment.


Supported by genome-sequencing company Illumina, the project is expected to cost around £30 million if sequencing costs continue to fall as expected, and to take five years to complete. Project researchers will also consider wider social issues arising from the project, including logistics of storage and analysis, and ethical concerns such as privacy, confidentiality and the testing of minors. Schools will have special lessons on genomics.


Faroes’ Department of Health programme manager Bogi Eliasen reportedly said: “The Faroes will be the first nation in the world to create a resource like this for public health. But we aren’t just doing it to be first. The goal is to make genomic information useful to our citizens.”


Comment: This is a bold move for what is admittedly a very small country, and will certainly generate a body of really valuable data on how far it is already possible to improve medical care using genomic information, not to mention how the population responds to the opportunity and which practical and social issues arise from the initiative.

The next PHG Foundation report, to be launched on 24th October 2011, looks at the implications of whole genome sequencing for the UK health service – though not as a national programme offering full sequencing for all citizens - including clinical uses, economic and logistical issues, and wider ethical, legal and social concerns. 

Report of a story in the news   |   By Dr Philippa Brice   |   Published 29 September 2011

The largest project to date from the health-research division of the European Commission is to launch next week, aimed at boosting understanding of human epigenomics. 

The importance of epigenomics – non-coding, heritable DNA modifications throughout the genome - in health and disease is becoming increasingly apparent, with multiple research projects underway (see previous news). The International Human Epigenome Consortium (IHEC) was established in 2010 to coordinate the production of reference epigenome maps for healthy humans and those with diseases.  

Our view:

Now the €30 million new European BLUEPRINT project is set to become another key contributor, with investigators from different European countries aiming to contribute at least 100 new reference epigenomes to the IHEC, which seeks 1000 in total by 2020. Researchers will sequence and map epigenomes from 60 different cell types from healthy humans, and a further 60 plus from blood cancer cell types, as well as lower resolution epigenomes from more healthy individuals.

Report of a story in the news   |   By Rebecca Bazeley   |   Published 28 September 2011

Doctors at Moorfields Eye hospital in London are to lead Europe’s first clinical trial using human embryonic stem cells.

Medics will inject healthy retinal pigment epithelial (RPE) cells into the eyes of 12 patients in order to halt, and possibly reverse, loss of vision caused by Stargardt's macular dystrophy. The disease, which affects around one in 10,000 people, causes the gradual loss of central vision leaving only peripheral sight.Prof Chris Mason, Chair of Regenerative Medicine Bioprocessing, Advanced Centre for Biochemical Engineering, University College London, said: "Whilst principally a safety study, it will significantly add to the growing core of knowledge on cell therapies, thus helping advance the entire field." Earlier this year the National Institute of Health Research (NIHR) awarded Moorfields and UCL Institute of Ophthalmology £26m for work aimed at the translation of scientific advances into new treatments for people with sight-threatening disease The trial is a partnership between Moorfields and American Biotechnology company Advanced Cell Technology (ACT), who are already trialling the procedure in the US.

News story   |   By Alex Oldman   |   Published 26 September 2011

The UK’s first brain tumour tissue bank has opened in Glasgow, providing a promising new resource for research scientists.


A £30,000 donation from the Brainstrust charity has helped establish a new tissue bank for brain tumour samples. According to Cancer Research UK, 4,750 individuals are diagnosed with malignant brain cancer every year and a further 4,500 diagnosed with non-invasive tumours of the central nervous system.


Based in Glasgow’s Southern General Hospital, the tissue bank will function as a repository for academic and commercial researchers. The first of its kind in the UK, the new tissue bank will act as a novel resource in the battle against brain cancer, seeking to collect samples from every brain cancer patient in west Scotland.


Comment: The heterogeneity of brain cancer means that a single sample has limited research use, whereas a large accessible collection of tumour tissues can provide a great deal of highly valuable genetic data and aid understanding of complex genetic and cellular mechanisms occurring within different types of brain cancer, as well as gene-environment interactions.

The potential of the Glasgow tumour tissue bank is enormous, and realising its potential will take considerable planning, especially in complying to EU tissue regulations and ensuring safeguards for donors. Hopefully, the tissue bank will spur the development of novel therapeutics for brain tumours.  

News story   |   By Dr Philippa Brice   |   Published 25 September 2011

A major newborn screening laboratory has opened in Egypt, said to be the world’s largest in terms of the number of bloodspot samples it is expected to process.


The Cairo laboratory is the product of company PerkinElmer, produced in collaboration with the Egyptian Ministry of Health and Population (MOHP). It forms part of a new, improved national newborn health screening programme for congenital hypothyroidism, which aims to boost access to reach around 96% of all Egyptian newborn babies.

Congenital hypothyroidism reportedly affects up to one in every 1,400 babies in the Middle East; it is a standard component of newborn screening programmes, as early detection and treatment with thyroid prevents irreversible mental retardation. Egypt has been screening for the condition for more than ten years; the new central laboratory replaces 14 regional centres of screening. A database with store test results for use in population health research and planning. 

Report of a story in the news   |   By Rebecca Bazeley   |   Published 22 September 2011

Just nine of 137 developing countries are set to achieve Millennium Development Goals (MDG) 4 & 5 on improving child and maternal health, say experts. 

A report published in the Lancet predicts that no country in sub-Saharan Africa will meet the goals by 2015, and 23 countries in the region currently look unlikely to achieve MDG4 before 2040.  MDG4 aims to reduce the death rate for children aged under five by two-thirds between 1990 and 2015. MDG5 aims to cut deaths among pregnant women and new mothers by three-quarters during the same timescale.   However, the researchers note that annual infant deaths around the world have dropped from 11.6 million in 1990 to about 7.2 million. They argue that while many aspects of health systems ‘limit the scale-up of child and maternal interventions’, some intervention strategies, for example vaccination and vitamin A supplementation, can be delivered even in health systems with very restricted capacities.   China, Rwanda and Botswana were praised for ‘substantial acceleration’ in tackling child mortality in the past decade. Countries making slower progress on the infant death target include Nigeria and Ethiopia.

Our view:

MDGs 4 and 5 were ambitious targets from the start, and it is perhaps not unexpected that most countries are not yet positioned to meet their challenge. However, the MDGs are inspiring concerted international efforts including in the critical area of birth defects. For example, Born Healthy, which aims to help developing countries tackle birth defects by building better healthcare services for their populations, and the Flour Fortification Initiative, currently celebrating 15 years of flour fortification with folic acid to prevent neural tube defects.

Keywords : Birth defects

Report of a story in the news   |   By Dr Philippa Brice   |   Published 19 September 2011

The journal Nature is conducting a survey on how interested people are in obtaining personal genome information, produced in cooperation with Genomes Unzipped blog community.  

Whilst Nature readers are typically highly scientifically literate, and the purpose of the poll is to ‘get a sense of how many researchers are actually peering into their own genomes’, no prior ‘knowledge or interest in genome-sequencing technology’ is needed. 

Our view:

Participants can also opt for inclusion in a draw to win an Amazon gift card, and results will be released in a future news piece in the journal. 

News story   |   By Dr Philippa Brice   |   Published 19 September 2011

A new report from the European Union Committee of Experts on Rare Diseases (EUCERD), which sets out an overview of rare disease activities and policies across Europe, notes that the only EU member states with an established national strategy are France, Portugal, Greece, Bulgaria, Spain and the Czech Republic. However, several others including the UK (see previous news) are said to be in the process of creating one, and others have taken steps towards doing so.


A new community of interest has been set up in Switzerland with a view to producing a national strategy for rare diseases, comprising the Swiss Medical Association and Orphanet-Switzerland, along with patient groups, hospitals and pharmaceutical industry representatives. Together, they hope to overcome the barriers to good diagnosis and care for rare diseases that are exacerbated by a health system that is focused locally rather than nationally, by producing a unified national action plan.


Meanwhile, the first rare disease registry in China is said to be in need of international collaboration. The registry was established for patients with the genetic disorder osteogenesis imperfecta or brittle bone disease by the China Dolls Care and Support Association, which was set up to provide medical support and social care. There have now been calls for assistance from similar registries in other countries, to allow global compatibility. 

Report of a story in the news   |   By Dr Philippa Brice   |   Published 15 September 2011

A new European programme called MyMicrobes is offering a combined gut bacteria DNA sequencing and social networking service. 

Researchers have shown that humans fall into three main groups or enterotypes with respect to their gut bacterial genetics (see previous news). Now, the same team has responded to a deluge of emails from people with gut problems by setting up MyMicrobes. They sequence participants’ gut DNA at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and use the information for a research database. Contributors receive information about their gut enterotype and have the opportunity to share their own information, opinions and advice with each other. All publicly available data will be anonymised. 

Our view:

This is an unusual enterprise, but if it meets a large enough demand from members of the public then it could prove highly effective. The problem is likely to be the relatively high price tag of around £1300 (€1,500); although MyMicrobes is a non-profit programme and the actual cost of sequencing is said to be more like £1750 (€2,000) per person, the discount may not be large enough to attract the numbers needed of 5,000 or more participants. 

News story   |   By Dr Philippa Brice   |   Published 6 September 2011

A new collaborative project to examine genetic cancer screening is underway in the UK.


Led by the charity Cancer Research UK in partnership with the National Health Service, governmental Technology Strategy Board, and companies Pfizer, AstraZeneca and PA Consulting, the Stratified Medicine Programme aims to create a standardised national service for genetic testing of tumours.


The first phase of the project (2011-13) will store clinical data from 9,000 patients with breast, bowel, lung, prostate, ovary and skin cancers along with the results of genetic analysis of their tumours performed in three technology hubs. Although this information will not inform the care of these patients, it is hoped that it will drive research that could help tailor treatment for future patients.


In the second phase of the project, the intention is to expand the scheme across the whole of the UK, widen the number of cancers tested, and create the basis of a ‘national standardised, high quality and cost effective genetic testing service and a research database that continues to grow and inform research’. Ultimately, it is hoped that this could form the basis of a national system of personalised cancer care.

Comment: This is one of many recent initiatives to develop and strengthen Stratified Medicine in UK. Despite the recent great advances in molecular characterisation of diseases, there is still little progress in translating this knowledge into clinical practice and in developing a personalised approach to healthcare. This project is an excellent opportunity to conduct valuable research whilst simultaneously moving towards a system that can accommodate the routine use of genomic analysis in oncology.  However, further detailed work will be required to identify and overcome the obstacles and barriers to the implementation of stratified medicine, such as the need for systems to evaluate, compare and fund different genetic tests and to create a supportive environment for its translation into practice.


News story   |   By Dr Philippa Brice   |   Published 7 September 2011

Following the decision that Myriad Genetics should retain intellectual property rights over the BRCA1 and BRCA2 genes in the US (see previous news), there has been debate over the company’s future.


The BRCA tests accounted for around 88% of Myriad’s total revenue in the last year, which has risen by 14% in total over the last quarter. Although they have retained their monopoly on these tests in the US, which cost more than $3000, critics have pointed out that the technology behind them is outmoded and will soon be eclipsed by whole genome sequencing techniques that could sequence an entire genome for a similar price.


An article in the New York Times reports that Myriad plans to adopt new technologies before their BRCA patent protection expires, as well as increasing diversification into other forms of diagnostics and maintaining trade secrets rather than claiming intellectual property. The company no longer shares research data with a National Institutes of Health public database.

Comment: Sharing data undoubtedly maximises the pace of discovery in medical research. However, companies do still need to make a profit in order to operate, and it may be that many have decided trade secrets are the best way forward; patents may be more legally robust, but if challenged they may generate hefty legal bills. Secrets, if they can be kept, are free. However, how far patients will be willing to participate in research with no direct public or personal benefit is less clear. 

News story   |   By Rebecca Bazeley   |   Published 5 September 2011

In the light of rapid developments in the clinical applications of genetics, updated guidelines on the ethical and legal issues facing healthcare professionals in this complex area have been published.


The nature of genetic information means that test results often have potential implications for family members as well as patients, leaving many clinicians uncertain about how best to balance the interests of all. A new report, Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information explores the intricate legal environment created by the Data Protection Act (1998), the Human Tissue Act (2004) and recent developments in statutory and professional guidance. It offers clear and practical guidance, supported by over 20 case studies, on the process of consent, including a special focus on disclosure to relatives.


The report is published jointly by the Royal College of Physicians (RCP), the Royal College of Pathologists (RCPath) and the British Society for Human Genetics (BSHG). The PHG Foundation’s Alison Hall was a leading contributor.

Comment: Technical advances in DNA sequencing are driving a huge expansion in the potential uses of genetic testing and genomic analysis. This RCP report highlights and addresses the impact on one specific area of clinical genetics practice, providing timely advice for practitioners. Many more such updates will be required for other health professionals, as well as for wider health systems. A PHG Foundation report to be released next month examines the knock-on effects of genetic advances across a whole range of clinical fields, and recommendations for the UK health service in particular.  

News story   |   By Dr Philippa Brice   |   Published 8 September 2011

A new organisation to be launched next month aims to become the single voice for science policy in Europe.


ScienceEurope, to be launched on 21st October, will be based in Brussels and combines two existing groups, the European Science Foundation (ESF) based in France (see previous news) and the European Heads of Research Councils (EUROHORCs) based in Switzerland. The ESF may continue some independent activities.


There have been suggestions that too much decision-making on science policy rests with the European government rather than member states, relative to the amount of research funding provided by each. It is hoped that ScienceEurope will represent the interests of researchers more effectively, having greater influence as a unified body and also the capacity to respond more quickly to developments in Brussels.

However, others have expressed concern that unless ScienceEurope itself allocates research funds as the ESF presently does, it will not have enough influence. 

Report of a story in the news   |   By Dr Sowmiya Moorthie   |   Published 2 September 2011

How prepared are diagnostic and public health bacteriology for introducing high-throughput sequencing into clinical practice?  Mark J Pallen and Nicholas J Loman ponder the question in Genome Medicine (subscription only).

The authors highlight the potentials as well as the caveats of high-throughput sequencing for use in medical microbiology. The potentials include providing detailed information on epidemiology and evolution of microbes as well as fast data sharing across the globe as illustrated by recent sequencing of the E.Coli genome (see previous news). However, this is also dependent on ensuring that genome sequences from different centres can be reliably compared. They also outline approaches for the discovery and detection of microbial pathogens such as metagenomics and metatranscriptomics.

Our view:

High-throughput sequencing technologies have revolutionized the study of microbial genomes in the research setting by allowing much faster sequencing and analysis of genomes. However, as the article highlights, routine use in medical practice will require overcoming gaps in knowledge as well as understanding the scope of information that can be gained by using these new technologies.

Research articles

Analysis of a study published in a science journal   |   By Dr Anna Pokorska-Bocci   |   Published 30 September 2011
Study: A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
By: et al. (77 authors total)
In: Neuron
What this study set out to do:

To methodically study the loci associated with the amyotrophic lateral sclerosis, also known as motor neuron disease (MND) to identify genetic elements responsible for this neurodegenerative disorder. 

How they went about it:

The researchers have previously discovered a strong association signal with one chromosomal region, 9p21, in MND patients. In this study, they used next generation sequencing technology to complete a full assessment of that region.


The study showed the mutations to be located within a very small, 30 base pair region and indicated the presence of a six-nucleotide long repeat located in the vicinity of the C9ORF72 protein-coding region.


The six-nucleotide long repeat was present in nearly half of familial MND cases, and data also indicated that that repeat is twice as common as mutations in the SOD1 gene, previously known to be associated with familial MND. Identification of the likely cause of chromosome 9p21-linked neurodegeneration may help to improve the screening and diagnosis of patients with different forms of neurodegenerative disorders. 

Our view:

This is yet another example of the implications of applying next generation sequencing technology for thorough and systematic analysis of genetic causes of disease. The identified repeat appears to be the most common genetic cause of this neurodegenerative disorder discovered to date, and will undoubtedly facilitate the design of novel, better-targeted therapeutics. 

Analysis of a study published in a science journal   |   By Dr Sowmiya Moorthie   |   Published 23 September 2011
Study: Earlier age of onset of BRCA mutation-related cancers in subsequent generations
By: et al. (11 authors total)
In: Cancer
What this study set out to do:

Evaluate trends in age at cancer diagnoses in families with known harmful BRCA mutations to see if age of onset differed between generations.

How they went about it:

Two generations of women (Gen 1 and Gen 2) diagnosed with BRCA-positive cancer (either ovarian or breast) from the same family were evaluated. Their age of diagnosis, location of the mutation, and year of birth were recorded. Statistical analysis was carried out to compare the age of diagnosis.


Women are diagnosed eight years earlier in comparison with previous generations. The median age of cancer diagnosis was 42 years (range, 28-55 years) in Gen 1 and 48 years (range, 30-72 years) in Gen 2.


In familial cases women with breast and ovarian cancer are diagnosed at an earlier age in later generations. This can have implications for the screening and counseling offered to these women.

Our view:

The authors acknowledge that further analysis is needed to validate the findings in this study, which consisted of a relatively small cohort. Further work is needed to see if factors such as improved screening and diagnosis have led to the younger age of diagnosis or if it is due to underlying biological mechanisms such as the accumulation of additional contributory risk mutations.  However, the findings have implications for screening programmes as well as counseling services.

Analysis of a study published in a science journal   |   By Dr Sowmiya Moorthie   |   Published 17 September 2011
Study: BRCA1 tumour suppression occurs via heterochromatin-mediated silencing
By: et al. (8 authors total)
In: Nature
What this study set out to do:

Elucidate how the different cellular functions of BRCA1 protein relate to its role as a tumour suppressor.

How they went about it:

Cells from mice that lacked the Brca1 gene as well as cultured cells and tumour cells from mouse and human breast cancers were investigated using a number of techniques.


Mice lacking Brca1 had fewer heterochromatic regions and these regions of DNA, which are normally inactive, were highly active, producing large numbers of RNA transcripts. This was also the case in mouse and human BRCA1-deficient breast cancer cells. Addition of artificial ubiquitin–histone complexes which silence heterochromatin to the BRCA1 deficient cells resulted in their recovery.


A core function of BRCA1 is in maintaining global heterochromatin integrity by silencing heterochromatin through ubiquitination of histones and this may account for many of its tumour suppressor functions.

Our view:

Although this study does not fully explain how BRCA1 functions as a tumour suppressor it does give many insights into how cells lacking BRCA1 can become cancerous. The researchers are planning to carry out further work to understand how the expression of repeat sequences leads to the development of tumours and why one defective Brca1 copy can predispose people to tumours.

Analysis of a study published in a science journal   |   By Alex Oldman   |   Published 16 September 2011
Study: HCN2 Ion Channels Play a Central Role in Inflammatory and Neuropathic Pain
By: et al. (5 authors total)
In: Science
What this study set out to do:

To identify the specific actions of HCN2 ion channels in relation to pain behaviour observed in mouse models of inflammatory and neuropathic pain.  

How they went about it:

A series of genetic deletions of the HCN2 gene was performed, producing knockout mouse models without any HCN2 channels (HCN2 -/-) and with just those HCN2 channels expressed in pain receptors  (NaV1.8 HCN2-/-). Responses to both neuropathic and inflammatory pain induced by injection of prostaglandin E2 (PGE2) and Forskolin (FSK) were measured. 


HCN2-/- mice had severe loss of muscular control and a lifespan of only a few weeks; they also demonstrated a loss of activity of the inflammatory pain pathway. The NaV1.8 HCN2-/- mice were phenotypically normal, but showed no response to induced neuropathic and inflammatory pain. 


The HCN2 channel is implicated in inflammatory and neuropathic pain pathways; removal demonstrated inhibitory effect upon inflammatory pain stimulants. The results also verify the HCN2 channel’s importance as a target for the biological inflammatory mediator, PGE2. Thus, HCN2 channels should be considered a new target for the development of novel analgesics (painkillers).  

Our view:

This work is thorough and provides a deeper insight into the functioning of the previously poorly understood HCN2 receptor, though it is still unknown whether these results will translate effectively to designing HCN2 blockers in humans. Furthermore, in a different experiment, embryonic deletion of NaV1.8 pain receptors did not eliminate responses to inflammatory pain, which contradicts the authors’ results following genetic deletion of the NaV1.8 HCN2 channels. This warrants further investigation to clarify these results, and provide an insight into compensatory pathways occurring in pain responses.  

Keywords : Molecular Genetics

Analysis of a study published in a science journal   |   By Dr Anna Pokorska-Bocci   |   Published 14 September 2011
Study: Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion
By: et al. (40 authors total)
In: Nature Genetics
What this study set out to do:

To further understand the acquisition of oncogenic mutations in genes in colorectal cancer and analyse the features and type of recurring mutations.

How they went about it:

The researchers sequenced the whole genomes of nine colorectal cancers and paired normal tissue controls. Tumour samples were taken before treatment, and SNP arrays were used to confirm tumour purity and select samples with copy-number variations suggestive of a chromosomal-instability phenotype.


439 mutations were identified and validated as somatic alterations across the nine samples. An increase in mutations at CpG sites was found, consistent with previous studies. Analysis of mutations identified 24 genes including well-known cancer-related genes such as KRAS, APC and TP53.  Also, the researchers found that in some cases genomic alterations led to functional fusion genes.


This is the first study which identifies functional fusion genes in colon cancers, though they have been previously reported in lung and prostate cancer samples. The discovery of VTI1A-TCF7L2 fusions was particularly interesting. The TCF7L2 gene encodes a transcription factor (TCF4) that controls genes essential for cell growth and specialisation. TCF7L2 is widely expressed in colorectal cancer, and its expression is inversely associated with survival.

Our view:

This paper provides an excellent example of the potential of the whole-genome sequencing in our further understanding of the mechanisms of cancer formation. The discovery of a broad range of genomic alterations made possible by advanced sequencing technology has allowed the identification of important genomic rearrangements and fusion events occurring in colorectal cancer. 

Analysis of a study published in a science journal   |   By Dr Gurdeep Sagoo   |   Published 14 September 2011
Study: Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
By: et al. (200 authors total)
In: Nature Genetics
What this study set out to do:

To further the genetic architecture underlying blood pressure by identifying genetic loci associated with pulse pressure (PP) and mean arterial pressure (MAP). 

How they went about it:

The researchers conducted a genome-wide association (GWA) meta-analysis across 35 studies involving 74,064 individuals of European descent (stage 1). Independent follow-up of 99 SNPs was conducted in a further 48,607 individuals (stage 2) with both these stages combined in a further meta-analysis. 


The meta-analysis in stage 1 identified 12 SNPs showing genome-wide significance with either PP or MAP including two novel regions for PP. When combined with the stage 2, these two new associations remained significant. The combined meta-analysis also identified two more novel regions associated with PP, two novel associations associated with MAP and one region associated with both PP and MAP, as well as showing a further 24 loci previously associated other measures of blood pressure. 


This study identifies six novel loci associated with PP and MAP and a further locus (located on chromosome 2 near the FIGN gene) not previously reported in Europeans. The authors say their results 'expand the knowledge of the genetic architecture of blood pressure and PP regulation and may give clues as to possible targets for blood pressure therapies'.

Our view:

Even though the authors note that none of the candidate genes identified in these novel regions are strong candidates in the regulation of blood pressure, several are implicated in biological mechanisms that may influence blood pressure. In addition to developing blood pressure therapies, the importance of regulating environmental risk factors such as excess dietary salt should not be ignored. The importance of blood pressure as a risk factor for cardiovascular disease is acknowledged and in addition to this study, the International Consortium of Blood Pressure Genome-Wide Association Studies (ICBP-GWAS) also published a genetic study of other blood pressure measures in over 200,000 individuals of European descent in the journal Nature. These two publications from this large multi-national collaboration should lead to some exciting follow-up work. 

Analysis of a study published in a science journal   |   By Dr Philippa Brice   |   Published 13 September 2011
Study: Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
By: et al. (40 authors total)
In: The Lancet
What this study set out to do:

Identify novel genetic variants affecting asthma risk and their implications for potential mechanisms underlying the disease. 

How they went about it:

A genome-wide association study (GWAS) was performed in a group of 2,669 asthmatics and 4,528 controls from Australia. These results were combined by meta-analysis with those from an independent study of 26,475 individuals, and seven genetic loci showing links with asthma identified. Finally, these associations were tested in samples from a total of 3,322 asthmatics and 22,036 controls. 


These studies identified a genetic variant in the interleukin-6 receptor (IL6R) gene on chromosome 1 that was highly associated with asthma risk, and a second significant (though less strong) association with a genetic variant on chromosome 11. The other five loci did not show significant association with asthma in the final stage of the study.  


The two variants in IL6R and on chromosome 11 are novel risk loci for asthma. Other evidence supports a role for the IL6R variant in asthma risk as it is associated with levels of the IL-6 protein receptor, which are increased in patients with asthma and stimulate an immune response in the lung. An existing drug for rheumatoid arthritis (tocilizumab) that binds to IL-6R may also be effective in asthma patients with the novel risk variant. 

Our view:

These new genetic variants identified via analysis of very large numbers of patient and control samples are exciting because they suggest links between asthma and other inflammatory diseases such as Crohn's disease, coeliac disease and psoriasis via overlapping, immune-mediated mechanisms. 

Analysis of a study published in a science journal   |   By Dr Gurdeep Sagoo   |   Published 9 September 2011
Study: Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
By: et al. (4 authors total)
In: The Lancet Neurology
What this study set out to do:

The study authors looked to systematically assess variation within the LRRK2 gene in individuals with and without Parkinson’s disease.

How they went about it:

The researchers systematically identified genetic variation within the exons of the LRRK2 gene based on existing published research as well as unpublished findings from within the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping of 121 polymorphisms was conducted in three different populations: 6995 white cases and 5595 white controls, 1376 Asian cases and 962 Asian controls, and 240 Arab-Berber cases and 372 Arab-Berber controls.


New risk variants were identified in the white (M1646T variant) and Asian (A419V variant) populations. The same protective haplotype (N551K-R1398H-K1423K) was identified across all three populations. In the Asian population, one of two previously reported variants was also confirmed. 


The authors state that this study shows how “several rare and common genetic variants in the same gene can have independent effects on disease risk” and that this type of large-scale international collaboration is required to determine the pathogenicity, frequency and disease contribution in different populations.

Our view:

The accompanying comment in The Lancet Neurology highlights some caveats in interpretation such as the sole use of exonic variants in this study as well as the need for further replication. The study also failed to identify around a third of the variants tested for, which as the authors state shows the “importance of studying genetic variability in large samples and in different ethnic groups, because frequencies and genetic effects might vary substantially”. Much work is still required to turn this knowledge of LRRK2 variants as potentially viable drug targets into therapies that may one day benefit patients.

Analysis of a study published in a science journal   |   By Dr Anna Pokorska-Bocci   |   Published 1 September 2011
Study: Parkinson's disease induced pluripotent stem cells
By: et al. (15 authors total)
In: Nature Communications
What this study set out to do:

To investigate the mechanisms of neurodegeneration occurring in Parkinsons’ disease and to establish an experimental system to identify compounds reducing levels of α -synuclein, a protein known to play a critical role in this disease.

How they went about it:

The researchers isolated pluripotent stem cells from the skin of a patient with an aggressive form of Parkinson’s disease and from an unaffected first-degree relative. These were used to create induced pluripotent stem cells (iPSCs) which were differentiated into neurons.


The cells from the Parkinson’s patient differentiated into neurons that produced double the amount of α -synuclein, a protein previously associated with the disease, compared to the cells from the healthy relative. The iPSCs allowed creating an experimental system which could be used for identification of compounds reducing the levels of α -synuclein and investigation of the disease mechanisms caused by this protein malfunction.


A major barrier to research on Parkinson’s disease has been the inaccessibility of diseased tissue for study. The successful induction of pluripotent stem cells from a patient allows a new insight into the molecular mechanisms of the disease.

Our view:

This is an exciting study which brings a potential breakthrough in research aiming at improving our understanding of this devastating disease. Although the study is based on a very rare type of the disease, it may give new insights into the underlying disease mechanisms.

Keywords : parkinsonsStem Cells

New reviews and commentaries

Selected new reviews and commentaries, 1 September 2011

Reviews & commentaries : by Dr Philippa Brice

Growth of genome screening needs debate.

Goldstein DB. Nature. 2011 Aug 3;476(7358):27-8.


Putting genomics into practice.

Holmes MV . BMJ. 2011 Aug 4;343:d4953. 


Advances in prenatal screening: the ethical dimension.

De Jong A et al. Nat Rev Genet. 2011 Aug 18;12(9):657-63


Aneuploidy drives a mutator phenotype in cancer.

Kolodner RD et al. Science. 2011 Aug 19;333(6045):942-3.


Is there a need for PGxceptionalism?

Khoury MJ et al. Genet Med. 2011 Jul 27.


Genomic technology applied to pharmacological traits.

Yang JJ, Plenge RM. JAMA. 2011 Aug 10;306(6):652-3.


The emergence of genome-based drug repositioning.

Lussier YA, Chen JL. Sci Transl Med. 2011 Aug 17;3(96):96ps35.


Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.

Cooper GM, Shendure J. Nat Rev Genet. 2011 Aug 18;12(9):628-40.


Addressing gaps in physician education using personal genomic testing.

Sharp RR, Goldlust ME, Eng C. Genet Med. 2011 Aug;13(8):750-751.


Exon-skipping therapy for Duchenne muscular dystrophy.

Nakamura A, Takeda S. Lancet. 2011 Aug 13;378(9791):546-7.


The timing of mitochondrial DNA mutations in aging.

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