PUBLIC RELEASE DATE: 1-Jun-2014 Contact: Mary Rice mary.rice@riceconseil.eu European Society of Human Genetics New understanding of the genes involved in taste perception and food preferences could lead to personalised nutrition plans effective not just in weight loss but in avoiding diseases such as cancer, depression, and hypertension, Italian researchers will tell the annual conference of the European Society of Human Genetics (ESHG) today (Monday). Knowing why individuals prefer certain food tastes and being able to personalise health interventions based on them will help people age in a healthier way and greatly improve their quality of life, as well as engender considerable savings for health systems, they say. Dr Nicola Pirastu and Dr Antonietta Robino, from the University of Trieste and the IRCCS Burlo Garofolo Institute for Maternal and Child Health, Trieste, Italy, set out to identify novel genes and pathways involved in taste perception and food preferences, and to investigate their implications in protecting against or predisposing to diet-related disorders such as overweight, obesity, and diabetes. "To date most studies have focused on specific taste receptors, especially bitter ones, and this has been partly successful in an attempt to understand the genetics behind the perception of specific compounds such as … Continue reading →

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 →