The ACMG Foundation for Genetic and Genomic Medicine announces the first recipient of the ACMG Foundation/David L. Rimoin Inspiring Excellence Award at the 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, Utah The ACMG Foundation for Genetic and Genomic Medicine is proud to announce that Marcus Miller, PhD of Baylor is the recipient of the inaugural ACMG Foundation/David L. Rimoin Inspiring Excellence Award. The Award was presented during the 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, Utah. The David L. Rimoin Inspiring Excellence Award was created in memory of the late Dr. David L Rimoin, one of the founders of ACMG who passed away in 2012. Dr. Rimoin touched the lives of generations of patients as well as trainees and colleagues. This award is a cash award given to a selected student, trainee, or junior faculty ACMG member whose abstract submission is chosen as a platform presentation during the ACMG Annual Clinical Genetics Meeting and complements the David L. Rimoin Lifetime Achievement Award, which will begin at the 2016 ACMG Annual Clinical Genetics Meeting in Tampa, Florida. Dr. Miller was selected to receive this award for his platform presentation, "Metabolomic Analysis Uncovers Significant Trimethylamine N-oxide … Continue reading →

New research from The University of Manchester published in the Journal of Community Genetics reveals a stark variation in genetic testing services for inherited eye disease in England. The study, which was part-funded by Fight for Sight, shows that service provision in the North-east is much lower than expected based on population size and demographics, while in London and the South-east, it's much higher. Genetic tests have been available on the NHS for over a decade for a limited number of inherited retinal dystrophies such as retinitis pigmentosa. However, new technology, known as 'next-generation sequencing' (NGS), has made it possible to map many genes simultaneously, saving time and money. NGS means that many more patients with inherited retinal dystrophies could receive accurate genetic diagnoses and appropriate genetic counselling on how the condition might affect their families. But in order to plan for an expansion in NHS service provision, it is necessary to know how well existing services are working. In the current study, the research team looked back at genetic testing in 2003-2011 for common mutations in six genes linked to dominantly inherited and X-linked retinitis pigmentosa. They quantified the variation in testing rate between the nine NHS regions in … Continue reading →

Contact Information Available for logged-in reporters only Newswise Boston (March 31, 2015) Coronary heart disease and stroke, two of the leading causes of death in the United States, are diseases associated with heightened platelet reactivity. A new study in humans suggests an underlying reason for the variability in the risk of clotting is due to a genetic variation in a receptor on the surface of the platelet. Additionally, the current study suggests that people expressing this genetic variant may be less protected from clotting and thrombosis when taking current anti-platelet therapies such as Aspirin and other blood thinning medications. Antiplatelet therapy has helped to drastically reduce mortality associated with heart attacks and strokes; however, some individuals taking antiplatelet drugs are not fully protected from platelet clot formation. For example, black individuals are disproportionately burdened by these diseases compared to white individuals even after adjusting for clinical and demographic factors. Benjamin Tourdot, Ph.D., a Postdoctoral Fellow on a research team led by Michael Holinstat, Ph.D., at the University of Michigan Department of Pharmacology recently discovered a genetic variant in a key platelet receptor, PAR4, which enhances platelet reactivity and is more frequently expressed in blacks than whites. The research will be … Continue reading →

DNA sequencing and synthesis are two sides of the same coin, the read and write functions of genetic material. The field and its requisite technology took off in the 1990s with the Human Genome Projects effort to sequence billions of bases and unlock a new era of genetically informed medicine. The resulting science is still a work in progress it turns out the genetic code is more complicated than anticipated but the technologies and companies it helped spawn are an impressive legacy. Integrated DNA Technologies (IDT) got its start during the Human Genome Project, as it produced single nucleotides (the As, Ts, Cs, and Gs that comprise the genetic code) and short oligonucleotide chains (or oligos) to help facilitate a massive sequencing effort around the world. Of course, sequencing technology has advanced dramatically in the intervening decades, but you still need oligos to do the sequencing, explains Jerry Steele, IDTs Director of Marketing, especially in the next gen sequencing space. Sequencing and DNA synthesis go hand in hand. The current sequencing method of choice is Illumina, a process that frequently returns millions of bases of DNA sequence by reading distinct stepwise fluorescent signals associated with each base in a massively … Continue reading →

IMAGE:This is the cover of Nanomedicine, MEDLINE indexed Impact factor: 5.824 (2013). view more Credit: Future Science Group 31 March, 2015 - Nanomedicine has published a special focus issue on the combined force of nanomedicine and regenerative medicine; two fields that continue to develop at a dramatic pace. Titled 'Engineering the nanoenvironment for regenerative medicine', the issue is guest edited by Professor Matthew J. Dalby (University of Glasgow, UK, and associate editor of Nanomedicine) and Dr Manus J.P. Biggs (National University of Ireland, Galway, Ireland). It comprises 9 primary research articles and 3 reviews covering topics relevant to the current translation of nanotopography and nanofunctionalization for nanoscale regenerative strategies in medicine. Indeed, the field of 'nanoregeneration' has grown exponentially over the last 15 years, and fields of study focusing on the nanobiointerface now include nanotopographical modification, formulation of existing biomaterials and modification of the extracellular matrix, as well as the development of targeting techniques using nanoparticles. Nanoscale platforms are becoming increasingly recognized as tools to understand biological molecules, subcellular structures and how cells and organs work. Therefore, they could have real applications in regenerative medicine and increase our knowledge of how stem cells work, or in drug discovery and cell … Continue reading →