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Published on April 2, 2018
Sponsor: Metabolon The Meta UDx helps clinicians to solve rare disease and difficult-to-diagnose pediatric and adult patient cases. Meta UDx is analytically validated under CLIA as a laboratory developed test, requiring only a small plasma sample to look for biomarkers or biochemical pathway changes that may indicate metabolic effects associated…
Published on March 6, 2018
[This report has been updated from an earlier version to include comment from the American College of Medical Genetics and Genomics (ACMG), and additional information by 23andMe]. The FDA has granted 23andMe the agency’s first authorization for a direct-to-consumer genetic test focused on cancer risk, allowing the company to…
Published on March 2, 2018
The NIH is partnering with Inova Health System to launch a two-year pilot project designed to connect researchers to individuals with genotypes of interest and examine the genes and gene variants’ influence on their phenotypes. Through The Genomic Ascertainment Cohort (TGAC), the NIH plans to establish a new database of 10,000…
Published on February 12, 2018
Congenica and FutureNeuro said today they will partner to develop new software designed to deliver faster and more accurate diagnoses in some genetic epilepsies, through a collaboration whose value was not disclosed. The collaboration is intended to apply Congenica’s clinical genomics analysis software, Sapientia, to genetic sequencing activities within FutureNeuro,…
Published on January 29, 2018
For the first time, researchers using a nanopore sequencer have assembled a human genome using ultra long reads. This achievement, described today in Nature Biotechnology, marks a milestone for the technology, as well as a considerable step toward eventually completing the human genome. “The ability to do this is significant,”…
Published on January 25, 2018
David Atkins, Ph.D., a veteran of healthcare and diagnostics businesses with experience stretching more than 25 years, has been appointed CEO of Congenica, a provider of clinical genomics interpretation software. Based in Cambridge, U.K., at the Welcome Genome Campus, Congenica has developed the clinical genomics analysis platform Sapientia, designed to…
Published on January 24, 2018
Drug development needs a new storyline. Although pharmaceutical companies spend billions of dollars to develop new therapeutics, only one out of every ten candidates survives clinical trials, and the majority fail due to a lack of efficacy and/or safety. Genetics may rewrite that story. Preclinical studies model diseases using cell…
Published on January 8, 2018
SAN FRANCISCO—Regeneron Pharmaceticals said the $50 million-plus consortium it has launched with five biopharmas will reshape drug development and even human health beyond simply speeding up exome sequencing of all 500,000 people within the UK Biobank by three years. AbbVie, Alnylam Pharmaceuticals, AstraZeneca, Biogen and Pfizer have agreed to invest…
Published on November 30, 2017
Researchers at Brigham Young University (BYU) have led a team of investigators in discovering a rare genetic variant that provides a protective effect for people who carry known genetic risk factors for Alzheimer’s disease (AD) yet never acquire the memory-robbing ailment. The team pursued an alternative to the typical research…
Published on November 30, 2017
The mystery of how subtle differences in our DNA give rise to both our unique traits as well as a variety of diseases is one that thousands of scientists around the world are trying to solve. The Genotype-Tissue Expression (GTEx) Consortium, is one of a handful of ambitious endeavors aimed…
Published on October 13, 2017
Inivata and Thermo Fisher Scientific are collaborating with Genomics England to assess the quality of blood plasma samples and explore the potential of liquid biopsy to improve disease management and patient outcomes. Thermo Fisher Scientific and Inivata will analyze about 500 plasma samples donated by participants in Genomics England’s 100,000…
Published on September 15, 2017
PerkinElmer said it will provide support services to the Whole Genome Sequencing (WGS) Diagnostic Program of In-Depth Genomics (IDG) through a collaboration designed to bring genetic diagnosis to neurology patients across a range of conditions that include rare and orphan disorders. Through the collaboration—whose value was not disclosed—PerkinElmer Genetics, the…
Published on May 2, 2017
The promise of regnerative medicine to grow human tissue outside the body using pluripotent stem cells and to use that tissue to treat diseases such as diabetes has shown siginificant potential. But recent work by Harvard researchers determined that human pluripotent stem cells are prone to develop mutations in the…
Published on May 2, 2017
Contract genomics organization WuXi NextCODE has closed on a $75 million Series B financing from existing investors and partners, with plans to accelerate the growth of its global genomic data platform. Temasek Holdings, a Singapore state-owned investment firm; and Yunfeng Capital, a Chinese private equity firm co-founded by billionaire Alibaba…
Published on March 22, 2017
Estimates vary as much as the applications of technology when it comes to just how much the liquid biopsy market will grow over the next few years. During March alone, Market Research Future projected no less than a $450 billion market by 2022, based on CAGR of 21.6%, while RNCOS…