PUBLIC RELEASE DATE: 1-Jun-2014 Contact: Mary Rice mary.rice@riceconseil.eu 33-668-930-650 European Society of Human Genetics Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and this can directly impact clinical management, the annual conference of the European Society of Human Genetics will hear today. Dr Jayne Hehir-Kwa, Assistant Professor of Bioinformatics in the Translational Research group, Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands, will describe results from her group's study that set out to determine whether copy number variants (CNVs), large genomic deletions or duplications, can contribute to diseases other than intellectual disability. The role of CNVs in intellectual disability is well known, but their implication in other conditions is less so. "There are, for example, case reports describing deletions in blindness, but no-one has determined the full extent of CNVs in other patient groups," Dr Hehir-Kwa will say. The team screened 600 patients for which no diagnosis or causal mutation could be found using current whole exome sequencing (WES) methodology, and looked genome-wide for a causal deletion or duplication. It is, they say, … Continue reading →

A new target that may be critical for the treatment of osteoporosis, a disease which affects about 25% of post-menopausal women, has been discovered by a group of researchers in The Netherlands and in Germany. Professor Brunhilde Wirth, Head of the Institute of Human Genetics, University of Cologne, Germany, will tell the annual conference of the European Society of Human Genetics tomorrow (Sunday) that new studies in zebrafish and mice have shown that injection of human plastin 3 (PLS3) or related proteins in zebrafish where PLS3 action has been suppressed can replace its loss and repair the bone development anomalies associated with this deficiency. Furthermore, overexpression of human (PLS3) in normal mice had a significant impact on bone development and maintenance, making them more resistant to fractures. The discovery that PLS3 mutations could cause osteoporosis was published last year in The New England Journal of Medicine. The results came as a surprise to the researchers, since mutations in the PLS3 gene had not previously been known to be related to osteoporosis and fractures, or to play a role in bone formation. In our most recent research, we started out by using zebrafish embryos in which PLS3 was knocked-out and studying … Continue reading →

PUBLIC RELEASE DATE: 31-May-2014 Contact: Mary Rice mary.rice@riceconseil.eu 33-668-930-650 European Society of Human Genetics With services based on exome sequencing becoming affordable to patients at a reasonable price, the question of the quality of the results provided has become increasingly important. The exome is the DNA sequence of genes that are translated into protein. These protein-coding regions contain most of the currently-known disease-causing genetic mutations. The American College of Medical Genetics and Genomics (ACMG) has recommended the reporting to patients of clinically actionable incidental genetic findings in the course of clinical exome testing. Specifically, mutations of 56 specific genes with known clinical importance should be reported even when they are incidental to the patient's current medical condition. However, a new study to be reported to the annual conference of the European Society of Human Genetics (ESHG) today (Sunday) shows that exome sequencing, as currently performed, does not always produce high quality results when examining subsets of genes such as the 56 ACMG genes. Dr Eric Londin1, Assistant Professor in the Computational Medicine Centre, Department of Pathology, Anatomy and Cellular Biology, Thomas Jefferson University, Philadelphia, USA, will tell the conference that analysis of 44 exome datasets from four different testing kits … Continue reading →