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Baylor, Ancestry, and N-of-One: News from November 2016

November 30, 2016 | News, products, and partnerships from around the diagnostics community including news from Baylor, Ancestry, and N-of-One. 

Novogene announced that it has completed a $75 Million Series B round financing with China Merchants Bank's CMB International Capital Management (Shenzhen), SDIC Innovation Investment Management (“SDIC Innovation”), and Shanghai Sigma Square Investment Center ("Sigma Square Capital"). The Series B financing will support strategic growth in Novogene’s global NGS service market and in clinical sequencing R&D and services. Additionally, funds from the financing will be used to enhance operating efficiency to further strengthen the company’s leadership position in the NGS industry. Diagnostics World News covered Novogene's efforts to tailor treatments in genome sequencing earlier this monthPress release

Quanterix Corporation announced a strategic collaboration with UmanDiagnostics AB to provide commercial access to a Simoa ultrasensitive NeuroFilament Light (Nf-L) assay. Neurodegenerative diseases, such as Alzheimer’s Disease and Parkinson’s Disease, are currently incurable and have debilitating conditions that result in progressive neurodegeneration which may start 20-30 years before symptoms are noticed. Developing specific, sensitive and predictive biomarkers is one of the major challenges so far for establishing therapeutic treatment for these diseases. The major barrier is a lack of highly sensitive and reliable tools to measure the gradient difference of molecules in the bloodstream at the pre-symptomatic stage. Many of the critical neurology health related biomarkers, including Nf-L, are not present in high enough concentrations in the blood to be detected with standard assay technology today. Quanterix’s digital health solution, Simoa, solves this problem by giving researchers the ability to closely examine critical biomarkers simultaneously, in a hypersensitive and reliable manner.The strategic partnership with UmanDiagnostics will provide researchers and clinicians with commercial access to the most sensitive NeuroFilament Light (Nf-L) assay available on the market which will improve detection and diagnosis capabilities in neurology. Press release

CombiMatrix announces that its pre-implantation genetic screening (PGS) by next generation sequencing (NGS) test has received conditional approval from the New York State Department of Health. The CombiPGS test is for women undergoing in vitro fertilization (IVF) and screens embryo biopsy cells for chromosomal abnormalities prior to implantation of the embryo. The test assists in maximizing the chance of successful implantation and pregnancy progression, while decreasing the likelihood of miscarriage. Press release

The departments of medicine and molecular and human genetics at Baylor College of Medicine are coming together to offer a new residency program for medical students interested in pursuing adult medical genetics. “Genetic and genomic medicine is really becoming the essential core of almost every clinical specialty, and that’s happening all over the world,” said Brendan Lee, the Robert and Janice McNair endowed chair and professor in the department of molecular and human genetics at Baylor.” The development of this new program has been a long time coming.” With the existing strength in pediatric genetics, the internal medicine-genetics program will also provide expert, transitional care to patients with genetic conditions as they move from pediatric care into adulthood and offer more direct access to the Undiagnosed Diseases Network for particularly rare conditions.

Royal Philips and N-of-One announced they are teaming up to enhance the capabilities of Philips' IntelliSpace Genomics solution. The two companies will collaborate on the clinical analysis, annotation and interpretation of oncology cases processed through Philips' new precision medicine solution for oncology. This healthcare informatics solution integrates genomic information with full patient context to empower clinicians with precision diagnostics and therapeutics, to enable them to measure the success of precision healthcare programs. Profiling tumors using genomic information is critical for complex cancer cases, yet challenges remain in rapidly and accurately interpreting genomic findings in the context of a patient's condition. While most cancer patients have thousands of gene variants and mutations, only a small number actually drive the individual's specific cancer or may have actionable therapeutic implications for a particular patient. Press release

N-of-One announced that med fusion has selected N-of-One to provide integrated interpretation of med fusion’s new HemeSEQ profiles for AML, CLL, DLBCL and MPN diseases. MDS and Myeloid profiles are in development and will be made available later this year. Financial terms of the agreement are not disclosed. med fusion’s HemeSEQ profiles help physicians rapidly diagnose, predict the course of disease progression and identify relevant clinical trial and treatment options for patients living with hematologic diseases. The HemeSEQ profiles expand med fusion’s hematological menu to nearly 100 tests by incorporating next generation sequencing (NGS) technology to provide physicians with an understanding of the molecular basis of the disease – an important component emphasized by the latest World Health Organization (WHO) recommendations to improve care of patients with hematologic neoplasms – without extending turnaround time or increasing specimen requirements. The cumulative findings are delivered via an integrated report that includes cytogenetic abnormalities and molecular mutations identified and matched to relevant clinical trial and therapy options for each patient utilizing N-of-One’s case analysis and proprietary knowledgebase and med fusion’s genetic analysts. Press release

Ancestry announced three new appointments to its growing leadership team. As the world’s largest consumer genomics provider, having genotyped 2.5 million DNA samples, Ancestry is continuing to add to its roster of talent as it seeks to help millions of consumers better understand themselves and the world around them by unlocking the secrets hidden in their genes. The three appointments announced today: Amy Gershkoff, most recently the chief data officer at Zynga, is joining as Ancestry’s first chief data officer; Sarah South, who previously served as vice president of Laboratory Operations at 23andme, has been appointed as vice president of Laboratory Sciences; and Todd Davis, who has led global talent acquisition at both Amazon and Dropbox, is joining as vice president of Global Talent. Press release

Edison T. Liu of The Jackson Laboratory (JAX) has been named a Fellow of the American Association for the Advancement of Science (AAAS). Elected by his peers, Liu was recognized for his distinguished contributions to cancer biology, particularly the molecular analysis of breast cancer, and to the global advancement of human genomics. “I am honored to be elected as an AAAS Fellow, and to be included in this distinguished group of leaders dedicated to advancing science,” said Liu in a written statement. “This is a pivotal moment in medical science – one where the global community can work together as never before in improving human health.” Liu is the president and CEO of The Jackson Laboratory. Previously, he was the founding executive director of the Genome Institute of Singapore, and served as president of the Human Genome Organization (HUGO). Prior to that position, Liu was the scientific director of the National Cancer Institute's Division of Clinical Sciences, where he led the intramural clinical translational science programs. As a faculty member at the University of North Carolina at Chapel Hill, Liu was the director of the UNC Lineberger Comprehensive Cancer Center's Specialized Program of Research Excellence in Breast Cancer; the director of the Laboratory of Molecular Epidemiology at UNC's School of Public Health; chief of Medical Genetics; and the chair of the Correlative Science Committee of the national cooperative clinical trials group, CALGB. Liu will be one of the plenary keynote speakers at the 2017 Bio-IT World Conference & Expo in Boston, May 23-25.