Genome Medicine

Rao, Mahendra; Condic, Maureen

doi: 10.1186/gm70pmid: 19638185

Although most stem cell therapy has been non-controversial, therapy based on pluripotent stem cells has raised both ethical and safety concerns. Despite these concerns, the use of cells derived from pluripotent stem cells has recently been approved for clinical trials. We suggest that recent advances in the field have provided avenues to develop pluripotent cells that raise far fewer ethical concerns. Moreover, advances in cell sorting, gene modification and screening have allowed the development of safer therapeutic approaches. Continued advances in this rapidly evolving field are likely to allow therapy to be delivered in a safe and effective manner without socially divisive ethical controversy in the not-so-distant future.

Smith, Rhodri; Warren, Richard; Griffiths, Christopher; Worthington, Jane

doi: 10.1186/gm72pmid: 19638187

Psoriasis is recognized as a complex disease for which multiple genetic and non-genetic factors influence susceptibility. The major susceptibility locus resides in the MHC class I region and, until relatively recently, evidence for non-MHC loci was inconsistent. Like many common diseases, knowledge of the genetic basis of this condition has been advanced dramatically in recent times with the advent of genome-wide association studies using single nucleotide polymorphisms. Here, we give an overview of current knowledge of genetic risk factors for psoriasis and consider emerging studies that may further add to our understanding of the genetic basis of the disease.

Alhamdani, Mohamed; Schröder, Christoph; Hoheisel, Jörg

doi: 10.1186/gm68pmid: 19591665

The incidence of cancer and its associated mortality are increasing globally, indicating an urgent need to develop even more effective and sensitive sets of biomarkers that could help in early diagnosis and consequent intervention. Given that many cellular processes are carried out by proteins, cancer research has recently shifted toward an exploration of the full proteome for such discovery. Among the advanced methodologies that are being developed for analyzing the proteome, antibody microarrays have become a prominent tool for gathering the information required for a better understanding of disease biology, early detection, discrimination of tumors and monitoring of disease progression. Here, we review the technical aspects and challenges in the development and use of antibody microarray assays and examine recently reported applications in oncoproteomics.

McCarthy, Mark

doi: 10.1186/gm66pmid: 19591663

Identification of common-variant associations for many common disorders has been highly effective, but the loci detected so far typically explain only a small proportion of the genetic predisposition to disease. Extending explained genetic variance is one of the major near-term goals of human genetic research. Next-generation sequencing technologies offer great promise, but optimal strategies for their deployment remain uncertain, not least because we lack a clear view of the characteristics of the variants being sought. Here, I discuss what can and cannot be inferred about complex trait disease architecture from the information currently available and review the implications for future research strategies.

Mandrekar, Sumithra; Sargent, Daniel

doi: 10.1186/gm69pmid: 19638184

Medical treatment for patients has historically been based on two primary elements: the expected outcome for the patient, and the ability of treatment to improve the expected outcome. The advance in genomic technologies has the potential to change this paradigm and add substantial value to current medical practice by providing an integrated approach to guide patient-specific treatment selection using the genetic make-up of the disease and the genotype of the patient. Specifically, genomic signatures can aid in patient stratification (risk assessment), treatment response identification (surrogate markers), and/or in differential diagnosis (identifying who is likely to respond to which drug(s)). Several critical issues, including scientific rationale, clinical trial design, marker assessment methods, cost and feasibility have to be carefully considered in the validation of biomarkers through clinical research before they can be routinely integrated into clinical practice. Here, we highlight the impact of genomic advances on various aspects of clinical trial design.

Sharp, Andrew

doi: 10.1186/gm67pmid: 19591664

A report on the meeting of the European Society of Human Genetics, Vienna, Austria, 23-26 May 2009.

Al-Ubaydli, Mohammad; Navarro, Rob

doi: 10.1186/gm73pmid: 19638188

There is value to patients, clinicians and researchers from having a single electronic health record data standard that allows an integrated view, including genotype and phenotype data. However, it is important that this integrated view of the data is not created through a single database because privacy breaches increase with the number of users, and such breaches are more likely with a single data warehouse. Furthermore, a single user interface should be avoided because each end user requires a different user interface. Finally, data sharing must be controlled by the patient, not the other end users of the data. A preferable alternative is a federated architecture, which allows data to be stored in multiple institutions and shared on a need-to-know basis. The data sharing raises questions of ownership and stewardship that require social and political answers, as well as consideration of the clinical and scientific benefits.