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BGI study tracks accuracy of NIFTY prenatal test

BGI has published a study tracking the clinical performance of its whole genome sequencing-based non-invasive prenatal test (the NIFTY test) in nearly 147,000 pregnancies, the largest such study to date. The results showed high sensitivity and specificity and no significant difference between high-risk and low-risk pregnant women.

6 Feb 2015

Scientists reveal genetic links to metabolic disorders

For at least 40 years, scientists who study how the body metabolizes sugar have accepted one point: there are four enzymes that kick-start the body's process of getting energy from food.

5 Feb 2015

Genomics of papillary thyroid carcinoma (PTC): an interview with Professor Thomas J. Giordano

There are two types of thyroid cells and therefore there are two broad types of thyroid cancer. Medullary carcinoma is derived from parafollicular or C cells, whereas follicular cells give rise to several types of thyroid cancers.

4 Feb 2015

FDA accepts Sangamo BioSciences' IND for SB-BCLmR-HSPC genome editing approach

Sangamo BioSciences, Inc. announced today that an Investigational New Drug (IND) application for the company's SB-BCLmR-HSPC genome editing approach, which is designed to provide a one-time lasting therapy for beta-thalassemia, has been accepted by the U.S. Food and Drug Administration and is now active.

4 Feb 2015

23andMe announces publication of genome-wide association study of motion sickness

23andMe, Inc., the leading personal genetics company, today announced the publication of the first ever genome-wide association study of motion sickness.

4 Feb 2015

New study sheds light on syndrome linked to aggressive pediatric cancer

A new study involving researchers at The University of Nottingham has revealed how children with an aggressive cancer predisposition syndrome experience a never before seen flood of mutations in their disease in just six months.

4 Feb 2015

Researchers offer critical new information about head and neck squamous cell cancer

Head and neck squamous cell cancer (HNSCC) ranks among the top ten most prevalent cancers in the United States. Despite its prevalence, little is known about how this cancer develops and spreads. However, in a paper published in the January 29, 2015 edition of Nature, researchers offer critical new information about head and neck cancers.

4 Feb 2015

Whole exome sequencing helps Mayo Clinic neurologist solve a medical mystery

Precision medicine is getting a jump-start from a new national initiative announced in President Obama's State of the Union message. One Georgia family has already experienced its benefits: genomic testing called whole exome sequencing helped Mayo Clinic neurologist Zbigniew Wszolek, M.D., solve a medical mystery that had left a boy with painful, jerking spasms that at times prevented him from walking or talking.

4 Feb 2015

New study examines the methylome of triple-negative breast cancer

The new study, published in Nature Communications, compares the breast cancer DNA 'methylome' with that of healthy individuals. The methylome provides a new picture of the genome and shows how it is epigenetically 'decorated' with methyl groups, a process known as DNA 'methylation'.

3 Feb 2015

Study provides common model of cellular ageing

Researchers at the BBSRC-supported Babraham Institute have mapped the physical structure of the nuclear landscape in unprecedented detail to understand changes in genomic interactions occurring in cell senescence and ageing. Their findings have allowed them to reconcile the contradictory observations of two current models of ageing: cellular senescence of connective tissue cells called fibroblasts and cellular models of an accelerated ageing syndrome.

2 Feb 2015

Researchers gain new insight on immune cells that harbor latent HIV virus

Drugs for HIV have become adept at suppressing infection, but they still can't eliminate it. That's because the medication in these pills doesn't touch the virus' hidden reserves, which lie dormant within infected white blood cells. Unlock the secrets of this pool of latent virus, scientists believe, and it may become possible to cure - not just control - HIV.

2 Feb 2015

Scientists create largest ever catalogue of biological chimeras

Scientists from the Spanish National Cancer Research Centre's Structural Computational Biology Group, led by Alfonso Valencia, are making the largest ever catalogue of biological chimeras available to the public domain.

2 Feb 2015

Emory researchers complete detailed maps of 184 duplications found in genomes

Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists can definitively say how a CNV, once discovered in someone's DNA, leads to one of these conditions in just a fraction of cases.

31 Jan 2015

Damon Runyon Cancer Research Foundation names 15 new Damon Runyon Fellows

The Damon Runyon Cancer Research Foundation, a non-profit organization focused on supporting innovative early career researchers, named 15 new Damon Runyon Fellows at its fall Fellowship Award Committee review. The recipients of this prestigious, four-year award are outstanding postdoctoral scientists conducting basic and translational cancer research in the laboratories of leading senior investigators across the country.

31 Jan 2015

TCGA researchers uncover differences between tumors with and without HPV infection

The study by The Cancer Genome Atlas (TCGA) researchers analyzed the genomes of 279 head and neck cancer tumors. They identified subtypes of head and neck cancer based on their genomic characteristics, changes in smoking-related tumors, as well as genomic differences in head and neck cancer tumors linked to HPV, the most commonly sexually transmitted disease in the United States.

31 Jan 2015

New insight on how naturally occurring mutations can be introduced into DNA

Scientists have shed light on how naturally occurring mutations can be introduced into our DNA.

31 Jan 2015

Breast and lung cancer patients with low levels of TTP protein have poorer prognosis

Moffitt Cancer Center researchers have found that breast and lung cancer patients who have low levels of a protein called tristetraprolin (TTP) have more aggressive tumors and a poorer prognosis than those with high levels of the protein.

31 Jan 2015

Scientists identify strong link between beclin 1 gene and triple-negative breast cancer

UT Southwestern Medical Center scientists have identified a strong link between the most aggressive type of breast cancer and a gene that regulates the body's natural cellular recycling process, called autophagy.

30 Jan 2015

UCSD, UCSF launch new project to map cancer cells

Researchers from the University of California, San Diego School of Medicine and University of California, San Francisco, with support from a diverse team of collaborators, have launched an ambitious new project - dubbed the Cancer Cell Map Initiative or CCMI - to determine how all of the components of a cancer cell interact.

30 Jan 2015

AstraZeneca announces research collaborations to use genome-editing tool for drug discovery and development

AstraZeneca today announced four research collaborations aimed at harnessing the power of CRISPR, a pioneering genome-editing technique, across its entire discovery platform in the company’s key therapeutic areas.

30 Jan 2015