Claritas and NextCODE Health Collaborate on Diagnosis of Rare Childhood Diseases

Claritas Genomics and NextCODE Health have entered a partnership to expand the use of genomic sequencing for the diagnosis and treatment of rare childhood diseases. Affiliated with Boston Children’s Hospital, Claritas is a CLIA-certified clinical laboratory that serves the DNA-based diagnostic testing needs of children’s hospitals that every year admit hundreds of thousands of patients with genetic disorders. NextCODE’s integrated clinical and research platform will enable Claritas to speed the delivery of genetic test results for more children and support building a seamless connection between research and clinical care. Claritas also plans to use NextCODE’s database architecture to build a centralized, cloud-based variant database that will help healthcare providers and researchers make challenging diagnoses and discover new disease genes.

“One of the early challenges physicians and children’s families face is understanding the information in genetic tests and what it means for their child’s health and care,” says Patrice Milos, CEO of Claritas. “NextCODE’s system supports identification of known mutations, enables us to rapidly hone in on novel ones, and visualize them on screen, linking the sequencing information to our information on the child’s clinical condition.”

Roche Buys Non-Invasive Prenatal Testing Service Provider

Roche has acquired Ariosa Diagnostics, a molecular diagnostics testing service provider that offers through its CLIA laboratory a non-invasive prenatal testing service using cell-free DNA (cfDNA) technology. Ariosa’s proprietary Harmony Prenatal Test is a blood test that can be performed as early as the 10th week of pregnancy, and has been validated in clinical studies involving more than 22,000 women of all ages and risk categories. By evaluating cfDNA found in maternal blood, the test assesses the risk of trisomy 21, or Down syndrome, with a false positive rate of less than 0.1%, as well as trisomies 13 and 18, which can also lead to severe genetic conditions. 

“Circulating cfDNA has the promise of providing early diagnostic information through a simple blood test in many important segments, including pregnancy, cancer, and transplantation, aligning with our strategy in personalized healthcare and commitment to setting new standards of care,” said Roland Diggelmann, chief operating officer of Roche Diagnostics Division.

Johns Hopkins Licenses PGS Technology to Good Start Genetics

Good Start Genetics, a commercial-stage molecular information company, has entered into an exclusive license agreement with Johns Hopkins University for the Fast Aneuploidy Screening Test-Sequencing System (FAST-SeqS) invented by Bert Vogelstein, MD, Ken Kinzler, PhD, Nickolas Papadopoulos, PhD, and MD-PhD candidate Isaac Kinde of Johns Hopkins. FAST-SeqS is a preimplantation genetic screening (PGS) method that enables embryos to be screened for chromosomal abnormalities prior to implantation in an in vitro fertilization setting. This increases the potential of transferring an embryo with the correct number of chromosomes and potentially increases pregnancy rates.

Specifically, FAST-SeqS counts the number of chromosomes in an embryo by using a single primer pair to select and amplify distinct sections of the genome that occur on every chromosome. Existing PGS methods also assess chromosome copy number, but are costly and often require lengthy turnaround times for results. This new approach might help reduce costs associated with PGS and make this testing more accessible to a wider range of patients, and it might also have applications beyond aneuploidy screening.

Thermo Fisher, Samsung to Develop New Point-of-Care Tests

Thermo Fisher Scientific and Samsung Electronics are collaborating to answer the healthcare industry’s demand for better point-of-care (POC) diagnostics that facilitate more rapid diagnosis and treatment. Together, the two companies will design, develop, and market new POC solutions for a broad range of uses, including the detection of sepsis, drugs of abuse, and therapeutic drug monitoring, as well as the detection of cardiac problems and women’s health conditions.
“Samsung has developed a compelling and innovative suite of point-of-care platforms,” said Marc Tremblay, PhD, president of Thermo Fisher’s clinical diagnostics business. “We look forward to working with Samsung to add some of our leading biomarkers and assays to their platforms to create a truly differentiated testing menu.”

Agilent, Baylor College of Medicine Open New Mass Spectrometry Research Center

Agilent Technologies and Baylor College of Medicine in Houston have joined forces to advance research and training in the field of metabolomics by opening the Agilent Technologies Mass Spectro¬≠metry Center of Excellence as part of the Alkek Center for Molecular Discovery and the Baylor College of Medicine Core Laboratory in the college’s department of molecular and cellular biology. Agilent is equipping the new center with two systems configured for metabolomics: an Agilent 6495 triple quadrupole liquid chromatography/mass spectrometry (LC/MS) system and an Agilent 6550 iFunnel quadrupole time-of-flight LC/MS system with a switchable GC APCI interface.

Baylor and Agilent will use the equipment collaboratively to analyze samples, conduct research, and train students. “The growing significance of metabolomics, not only in life science research but in many application spaces, has resulted in the need for more analytical capabilities,” said Arun Sreekumar, PhD, co-director of the Alkek Center. “Baylor and Agilent have identified several areas of mutual interest—metabolomics, lipidomics, clinical research, disease research—where we believe we can make real progress together.”

IDT, Ubiquitome Collaborate on Rapid Ebola Field Test

Integrated DNA Technologies (IDT) and Ubiquitome have entered a partnership to develop a rapid test that can diagnose Ebola in the field. Named the Ubiquitome Freedom4 Real-Time RT-PCR Ebola Virus assay, this test is designed for Ubiquitome’s handheld real-time PCR device, the Freedom4. This platform can run on battery power alone for up to 6 hours, is housed in durable aluminum casing, and includes laser-based optical detection. IDT will also leverage its PrimeTime qPCR assay platform to develop this rapid Ebola test.

“The Ubiquitome Freedom4 Real-Time RT-PCR Ebola Virus assay will allow rapid, accurate field testing of Ebola virus disease,” said Paul Pickering, CEO of Ubiquitome. “This is important because regions affected by this disease are often far from an established laboratory.” The research and development organization Battelle will conduct validation of the Ubiquitome Freedom4 Real-Time RT-PCR Ebola Virus assay.

Atreca, Janssen Biotech to Investigate Autoimmune Disorders

Atreca has teamed with Janssen Biotech to apply Atreca’s Immune Repertoire Capture technology to autoimmune disease. The goal of the collaboration, facilitated by the Johnson & Johnson Innovation Center in California, is to detail the molecular mechanisms underlying autoimmune diseases and define patient subgroups with distinct disease biology to inform better treatment. Immune Repertoire Capture technology employs proprietary single-cell analysis to deliver full-length, natively paired antibody and T-cell receptor repertoires along with the levels of co-expressed genes that reveal cell subtype and phenotype. These data reveal the activity of the immune system and enable identification of the molecular targets of an immune response. Applied to human disease, Immune Repertoire Capture has the potential to serve as an engine for the discovery and development of novel therapeutics, vaccines, and diagnostics.