Genomic News and Research

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Intratumoral morphological diversity of breast cancer not related to chromosome aberrations

Intratumor morphological heterogeneity (diversity) of breast cancer is not related to chromosome aberrations. This conclusion was made based on the study of one case with aggressive variant of breast cancer - invasive micropapillary carcinoma by researchers from Tomsk State University, Tomsk Cancer Research Institute, and Institute of Medical Genetics.

30 Sep 2015

Tailorx trial data supports use of Oncotype DX test in patients with early stage breast cancer

Initial results were announced today from the Trial Assigning IndividuaLized Options for Treatment (Rx), or TAILORx, a multi-center prospectively conducted trial of more than 10,000 women with early stage breast cancer sponsored by the National Cancer Institute, part of the National Institutes of Health, and led by the ECOG-ACRIN Cancer Research Group with support from Genomic Health, Inc.

29 Sep 2015

Real-time blood test based on DNA sequencing can rapidly diagnose Ebola and other acute infections

Using technical advances not yet developed when the 2014 Ebola outbreak began, UC San Francisco-led scientists completed a proof-of-principle study on a real-time blood test based on DNA sequencing that can be used to rapidly diagnose Ebola and other acute infections. The researchers said that the test can be used even where lab space and medical infrastructure are scarce.

From Oxford Nanopore Technologies 29 Sep 2015

Scientists develop new molecular toolkit to investigate protein assemblies in human disease

A photograph may reveal how something looks, but direct observation can divulge how the objects behave. The difference can mean life or death, especially when it comes to fighting human disease.

29 Sep 2015

Genetic test identifies breast cancer patients that can avoid chemotherapy and remain relapse-free following five years of hormone therapy

Genomic Health has announced the presentation of the first results1 from the Trial Assigning IndividuaLised Options for Treatment (Rx), or TAILORx, a large, prospectively conducted trial designed and conducted by the ECOG-ACRIN Cancer Research Group under the sponsorship of the U.S. National Cancer Institute (NCI).

28 Sep 2015

Multigene test performed on tumor can identify breast cancer patients who can safely avoid chemotherapy

A major study published in the New England Journal of Medicine is providing the best evidence to date that a 21-gene test done on the tumor can identify breast cancer patients who can safely avoid chemotherapy.

28 Sep 2015

Researchers find mutated gene responsible for cardiac angiosarcoma in two brothers

A few years ago, Javier Benítez, director of the Human Genetics Group at the CNIO, received a call from Pablo García Pavía, from the Cardiology Unit of the Puerta de Hierro University Hospital. This cardiologist was treating two brothers with a rare form of cancer, cardiac angiosarcoma (CAS).

26 Sep 2015

Comprehensive collection of human genomic variants now available in Kaviar database

The Institute for Systems Biology (ISB) and the Inova Translational Medicine Institute (ITMI) announced today a new release of Kaviar, the most comprehensive collection of human genomic variants currently available to the public.

26 Sep 2015

Soft palate study reveals how flu viruses acquire the ability to move between people

National Institutes of Health scientists and their colleagues identified a previously unappreciated role for the soft palate during research to better understand how influenza (flu) viruses acquire the ability to move efficiently between people.

26 Sep 2015

Scripps becomes first health care provider in San Diego County to implant Evera MRI SureScan ICD System

Scripps Health is the first health care provider in San Diego County to use the only implantable cardioverter defibrillator (ICD) device approved for use with magnetic resonance imaging (MRI) scans.

26 Sep 2015

Creating a new paradigm for management of yeast infections

Yeasts are unicellular microorganisms classified within the Fungi kingdom. They are well known for their use in baking, winemaking and beer brewing fermentation, but some species of yeast are opportunistic pathogens that can cause infections in humans. "Today, yeast infections are poorly understood, difficult to diagnose, and are becoming increasingly frequent and serious, affecting over 300 million people worldwide.

26 Sep 2015

Scientists identify different CRISPR system with potential to advance genetic engineering

A team including the scientist who first harnessed the revolutionary CRISPR-Cas9 system for mammalian genome editing has now identified a different CRISPR system with the potential for even simpler and more precise genome engineering.

26 Sep 2015

CUMC's Laboratory of Personalized Genomic Medicine granted approval for Columbia Combined Cancer Panel

The Laboratory of Personalized Genomic Medicine at Columbia University Medical Center has been granted full approval by the New York State Department of Health for the Columbia Combined Cancer Panel, (CCCP). This panel queries 467 cancer-related genes and was designed in collaboration with Columbia University Medical Center oncologists.

25 Sep 2015

Study uses genome- and epigenome-editing tools to determine disease-causing variants

A paper receiving advance online release in Nature Medicine describes a strategy for meeting one of today's most significant challenges in genomic medicine - determining whether a specific DNA variant in the non-protein-coding genome is the actual disease-causing variant of an associated disease risk.

24 Sep 2015

NeoGenomics introduces new NeoSITE Cervical FISH assay

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today an expansion of its comprehensive FISH (Fluorescence In Situ Hybridization) testing menu to include a new NeoSITE Cervical assay to provide additional diagnostic information on abnormal Pap smears.

23 Sep 2015

Researchers receive NIH grants to find genomic regions containing variants that affect disease risk

Six new grants from the National Institutes of Health will support researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits.

23 Sep 2015

UNC Lineberger earns 'exceptional' rating from NCI for major grant application

The UNC Lineberger Comprehensive Cancer Center earned an "exceptional" rating from the National Cancer Institute for a major grant application associated with the center's multidisciplinary research.

23 Sep 2015

Researchers receive $13 million NIH grant to develop new stem cell-based assays for studying autism

The National Institutes of Health has awarded a $13 million grant over five years to develop and disseminate new stem cell-based technologies and assays for studying autism spectrum disorder (ASD) and other mental health diseases to a consortium of researchers at the University of California, San Diego and the Salk Institute for Biological Studies, working in tandem with leaders in the biotechnology sector.

23 Sep 2015

Mayo Clinic's Gianrico Farrugia highlights five areas that may impact patient care

How is individualized medicine working? Let us count the ways. That's just what Mayo Clinic Vice President Gianrico Farrugia, M.D., did this morning in his opening keynote at the 4th annual Individualizing Medicine Conference. The core of his talk highlighted five areas in which the knowledge and know-how from the human genome will be most impactful in patient care, not just at Mayo Clinic, but anywhere in the nation and globally.

23 Sep 2015

Using deep learning to analyze genetic mutations: an interview with Brendan Frey

To understand deep learning in the context of genetic disease, you need to understand shallow learning first. Shallow learning relates mutations to diseases by looking for mutations that commonly occur in patients with a disease. It’s a commonly used method.

21 Sep 2015

Genomic News and Research

Intratumoral morphological diversity of breast cancer not related to chromosome aberrations

Tailorx trial data supports use of Oncotype DX test in patients with early stage breast cancer

Real-time blood test based on DNA sequencing can rapidly diagnose Ebola and other acute infections

Scientists develop new molecular toolkit to investigate protein assemblies in human disease

Genetic test identifies breast cancer patients that can avoid chemotherapy and remain relapse-free following five years of hormone therapy

Multigene test performed on tumor can identify breast cancer patients who can safely avoid chemotherapy

Researchers find mutated gene responsible for cardiac angiosarcoma in two brothers

Comprehensive collection of human genomic variants now available in Kaviar database

Soft palate study reveals how flu viruses acquire the ability to move between people

Scripps becomes first health care provider in San Diego County to implant Evera MRI SureScan ICD System

Creating a new paradigm for management of yeast infections

Scientists identify different CRISPR system with potential to advance genetic engineering

CUMC's Laboratory of Personalized Genomic Medicine granted approval for Columbia Combined Cancer Panel

Study uses genome- and epigenome-editing tools to determine disease-causing variants

NeoGenomics introduces new NeoSITE Cervical FISH assay

Researchers receive NIH grants to find genomic regions containing variants that affect disease risk

UNC Lineberger earns 'exceptional' rating from NCI for major grant application

Researchers receive $13 million NIH grant to develop new stem cell-based assays for studying autism

Mayo Clinic's Gianrico Farrugia highlights five areas that may impact patient care

Using deep learning to analyze genetic mutations: an interview with Brendan Frey

Industry focus eBook: Genomics (4th edition) eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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