LAUSANNE, Switzerland – May 25th 2017 – Saphetor, SA, a Swiss precision medicine company dedicated to advancing personalized diagnostics based on next-generation DNA sequencing, announced today a research partnership with the Exome Consortium of University College London (UCL), led by Dr. Vincent Plagnol.
As part of a series of service agreements with UCL-affiliated research groups, Prof. Michel Michaelides and his team will use Saphetor’s precision medicine platform to investigate eye disorders in patients. By partnering with world-class researchers and clinicians at UCL, Saphetor seeks to improve genetic diagnoses that will enhance prognosis counseling for patients and identify those who may be eligible for specific clinical trials.
Dr. Vincent Plagnol is a Reader in statistical genetics at the UCL Genetics Institute with a focus on translational research. His work on rare disease genetics is widely published, both in pioneering methodological advances and significant molecular discoveries. Dr. Plagnol said, “We are looking forward to working with Saphetor, as their fast turnaround and comprehensive platform will ensure timely and accurate results in our wide range of research projects.”
Prof. Michel Michaelides is a highly-cited Professor of Ophthalmology at University College London, based at the Institute of Ophthalmology, a premier vision research center. He is also a Consultant Ophthalmologist at Moorfields Eye Hospital, one of the most respected eye hospitals in the world. Prof. Michaelides said, “We are pleased to work with Saphetor, as their advanced analytical capabilities are already driving new findings in congenital eye conditions.”
Andreas Massouras, CEO of Saphetor, said: “We are very honored to work with Dr. Plagnol, Prof. Michaelides, and their collaborators in the UCL Exome Consortium. We intend to accelerate novel research findings on a number of exciting projects.”
Saphetor, SA, founded in 2014, is a Swiss precision medicine company dedicated to identifying human genetic variants with improved accuracy by leveraging proprietary algorithms and expert domain knowledge. Capitalizing on the emergence of exome sequencing and whole-genome sequencing, Saphetor’s suite of services offers clinicians intuitive, data-driven solutions to make faster, more accurate diagnoses and treatment decisions. Saphetor is the creator of VarSome.com, a free and widely used genomic variant search engine with more than 33 billion data points.