Genomic News and Research

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Birmingham Women's Hospital leads the way in genomic diagnosis

Birmingham Women's Hospital (BWH) has adopted a radical new technology to make it easier to identify rare diseases by their genetic causes, leading to a faster and more accurate diagnosis for the patient. The technology being used to do this is called Sapientia™ and it is facilitating the reclassification of disease.

16 May 2016

Genomic cfDNA profiling feasible in metastatic CRPC

Comprehensive genomic profiling of cell-free DNA can provide clinically useful information in men with castration-resistant prostate cancer treated with enzalutamide, research indicates.

14 May 2016

BioNano study describes use of Irys System with Illumina-based NGS methods to achieve high-quality genomic assemblies

BioNano Genomics, the leader in physical genome mapping, today announced publication of another study describing application of its next-generation mapping (NGM) technology as the critical component in achieving high-quality de novo human genome assemblies with unprecedented contiguity.

13 May 2016

Scientists prove effectiveness of gene editing system in eliminating HIV from DNA of CD4+ T-cells

In 2014, a team of researchers in the Lewis Katz School of Medicine at Temple University became the first to successfully eliminate the HIV-1 virus from cultured human cells.

12 May 2016

Comprehensive genomic characterizations of ACC provide potentially better treatment options

An international team of scientists, including those at the Translational Genomic Research Institute (TGen), have discovered new avenues of potential treatments for a rare and deadly cancer known as Adrenocortical Carcinoma, or ACC.

11 May 2016

Researchers agree to test new stem cell gene therapy for Sanfilippo disease in human trial

Scientists in Manchester, who have developed a stem cell gene therapy to reverse a fatal childhood illness, have agreed to work with a new therapeutics company to test it in a human trial.

11 May 2016

Profiling gamma-retrovirus integration sites may help identify genes linked to specific cancer types

Identifying the sites where gamma-retroviruses commonly insert into the genome may help to identify genes associated with specific cancer types, according to a study published April 20, 2016 in the open-access journal PLOS ONE by Kathryn Gilroy at the University of Glasgow, UK, and colleagues.

10 May 2016

Study highlights role of specific chromosomal deletion in cancer development, progression

In a typical cancer cell, up to one-quarter of the genome is lost due to large chromosomal deletions, while the concomitant loss of hundreds of genes creates vulnerabilities that are impossible to reveal through the study of individual genes. Prof. Anna Sablina and her team at VIB/KU Leuven optimized a workflow for the generation of cell lines with targeted chromosomal deletions.

10 May 2016

Study reveals important new findings about rare cancer

A study comprised of 39 international institutions revealed significant new findings about adrenocortical carcinoma (ACC), a rare cancer with an often poor prognosis.

10 May 2016

Study highlights significance of tiny RNA molecules in tissue regeneration process

Dr. Elizabeth Hutchins, a Post-Doctoral Fellow in TGen's Neurogenomics Division, and co-lead author of the study, said she hopes this investigation eventually enables such things as regenerating cartilage in knees, repairing spinal cords in accident victims, and reproducing the muscles of injured war veterans.

9 May 2016

Study sheds light on development of ILCs that play vital role in body's immune defense

Through the use of powerful genomic techniques, researchers at the National Institute of Arthritis and Musculoskeletal and Skin Diseases have found that the development of immune cells, called innate lymphoid cells (ILCs), gradually prepares these cells for rapid response to infection. This work, which appeared online today in Cell, sheds light on the development and function of a cell type that is increasingly recognized as having an important role in the body's immune defense. NIAMS is part of the National Institutes of Health.

6 May 2016

OGT launches Cytocell FISH probes for glial tumours

Oxford Gene Technology (OGT), The Molecular Genetics Company, has launched its CE-IVD labelled Cytocell Aquarius® 1p36/1q25 and 19q13/19p13 Deletion Probe Kit*, a cost-effective fluorescence in situ hybridisation (FISH) kit for the reliable investigation of glial tumours.

4 May 2016

Combination of two diagnostic tests can decrease chance of missing tumors by sevenfold

Cytopathology researchers at Houston Methodist Hospital recently found that combining two diagnostic tests, Pap and high-risk human papillomavirus (hrHPV), dramatically decreased the chance of missing tumors and high-grade lesions by sevenfold.

4 May 2016

Key method to test compounds for anti-cancer activity in cells flawed, study reveals

The primary method used to test compounds for anti-cancer activity in cells is flawed, Vanderbilt University researchers report May 2 in Nature Methods. The findings cast doubt on methods used by the entire scientific enterprise and pharmaceutical industry to discover new cancer drugs.

3 May 2016

Researchers one step closer to understanding disease origin

Researchers are one step closer to understanding the genetic and biological basis of diseases like cancer, diabetes, Alzheimer's and rheumatoid arthritis - and identifying new drug targets and therapies - thanks to work by three computational biology research teams from the University of Arizona Health Sciences, University of Pennsylvania and Vanderbilt University.

30 Apr 2016

Study sheds light on several aspects of Ebola virus flare-ups in Liberia

Ebola virus samples taken from patients in Liberia in June 2015 are strikingly similar in their genetic makeup to other Ebola virus sequences from Western Africa, according to research published online today in the journal Science Advances. The study sheds light on several aspects of the "flare-ups" that have occurred in Liberia since the country was initially declared free of Ebola virus disease.

30 Apr 2016

Curve along edge of tumor may play major role in cancer cell metastasis

Only a few cells in a cancerous tumor are able to break away and spread to other parts of the body, but the curve along the edge of the tumor may play a large role in activating these tumor-seeding cells, according to a new University of Illinois study.

29 Apr 2016

Discovery of shared biological properties among DNA variants may help identify new therapeutic targets

The discovery of shared biological properties among independent variants of DNA sequences offers the opportunity to broaden understanding of the biological basis of disease and identify new therapeutic targets, according to a collaboration between the Perelman School of Medicine at the University of Pennsylvania, the University of Arizona Health Sciences, and Vanderbilt University. The group published their findings this month in npj Genomic Medicine.

29 Apr 2016

New class of cancer-driver gene may serve as unique therapeutic targets, biomarkers in TNBC

The discovery of long non-coding RNA (lncRNA) has dramatically changed the understanding of the biology of diseases such as cancer. The human genome contains about 20,000 protein-coding genes - less than 2 percent of the total - but 70 percent of the genome is made into non-gene-encoding RNA.

29 Apr 2016

Modernization of screening methods in sperm banks could protect future children from highly heritable diseases

U.S. sperm banks perform genetic testing to screen for and disqualify carriers of a limited number of recessive disease mutations, but more comprehensive and affordable DNA-based screening methods are now available that can detect many more disease-causing genetic variations.

27 Apr 2016

Genomic News and Research

Birmingham Women's Hospital leads the way in genomic diagnosis

Genomic cfDNA profiling feasible in metastatic CRPC

BioNano study describes use of Irys System with Illumina-based NGS methods to achieve high-quality genomic assemblies

Scientists prove effectiveness of gene editing system in eliminating HIV from DNA of CD4+ T-cells

Comprehensive genomic characterizations of ACC provide potentially better treatment options

Researchers agree to test new stem cell gene therapy for Sanfilippo disease in human trial

Profiling gamma-retrovirus integration sites may help identify genes linked to specific cancer types

Study highlights role of specific chromosomal deletion in cancer development, progression

Study reveals important new findings about rare cancer

Study highlights significance of tiny RNA molecules in tissue regeneration process

Study sheds light on development of ILCs that play vital role in body's immune defense

OGT launches Cytocell FISH probes for glial tumours

Combination of two diagnostic tests can decrease chance of missing tumors by sevenfold

Key method to test compounds for anti-cancer activity in cells flawed, study reveals

Researchers one step closer to understanding disease origin

Study sheds light on several aspects of Ebola virus flare-ups in Liberia

Curve along edge of tumor may play major role in cancer cell metastasis

Discovery of shared biological properties among DNA variants may help identify new therapeutic targets

New class of cancer-driver gene may serve as unique therapeutic targets, biomarkers in TNBC

Modernization of screening methods in sperm banks could protect future children from highly heritable diseases

Genetics & Genomics - Second Edition eBook

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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