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TAU researchers identify novel genetic mutation as source of specific rare disease

Rare diseases -- those that affect fewer than one in 200,000 people -- are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. While the U.S. Orphan Drug Act of 1983 was written into law to promote research on the topic, the cost of identifying the source and progression of these diseases remains prohibitive for many families.

10 Feb 2015

New NIH grant to help restore function after spinal cord injury

Restoring function after spinal cord injury, which damages the connections that carry messages from the brain to the body and back, depends on forming new connections between the surviving nerve cells. While there are some delicate surgical techniques that reconnect the nerves, researchers are also looking at ways to restore the connections themselves at a cellular level.

10 Feb 2015

Discovery leads to new understanding of cancer metastasis

In a breakthrough in the understanding of how cancer spreads, researchers at the University of Virginia School of Medicine have identified a substance secreted by lung cancer cells that enables them to metastasize, beginning their deadly march to other sites in the body.

10 Feb 2015

Study links previously unknown genetic anomalies to breast cancer in African American family members

The "Jewels in our Genes" study, led by University at Buffalo researcher Heather Ochs-Balcom, has uncovered previously unknown segments of DNA shared by African American family members who have breast cancer. "The discovery of these regions supports our hypothesis that there are still undiscovered breast cancer genes that may be unique to African Americans," says Ochs-Balcom, PhD, a genetic epidemiologist in the UB Department of Epidemiology and Environmental Health.

10 Feb 2015

Researchers develop quality assurance tool for genome editing

A research team at Boston Children's Hospital's Program in Cellular and Molecular Medicine has developed a quality assurance tool for scientists using genome-editing technologies like the increasingly popular CRISPR. The assay, called high throughput genome translocation sequencing (HTGTS), rapidly gauges—for any given gene—these technologies' accuracy and their risk for causing potentially dangerous genomic collateral damage.

9 Feb 2015

New findings could pave way to develop drug therapies for necrosis-related diseases

Strokes, heart attacks and traumatic brain injuries are separate diseases with certain shared pathologies that achieve a common end - cell death and human injury due to hypoxia, or lack of oxygen.

9 Feb 2015

Research finding could help predict the next outbreak of plague

Biologists at the University of Oslo, Norway, are now making a giant effort to identify the relationship between climate change, rat infestations, and the many major plague epidemics throughout history. The knowledge may be used to predict the next plague outbreak.

9 Feb 2015

New study sheds light on anorexia nervosa

A study led by Howard Steiger, PhD, head of the Douglas Mental Health University Institute Eating Disorders Program, in Montreal, in collaboration with Linda Booij, a researcher with Sainte-Justine Hospital and an assistant professor at Queen's University, is the first to observe effects suggesting that the longer one suffers from active anorexia nervosa (AN), the more likely they are to show disorder-relevant alterations in DNA methylation.

9 Feb 2015

Investigators develop microbiome map of New York City subway system

The microbes that call the New York City subway system home are mostly harmless, but include samples of disease-causing bacteria that are resistant to drugs -- and even DNA fragments associated with anthrax and Bubonic plague -- according to a citywide microbiome map published today by Weill Cornell Medical College investigators.

9 Feb 2015

CLL aggressiveness linked to genetic variability

The genetic variability of a tumour could be a predictor for its aggressiveness: the greater the variability in gene expression, the more aggressive the tumour is likely to be. This is the hypothesis that the CNIO Structural Biology and Biocomputing Programme, led by Alfonso Valencia, is testing, after their findings on chronic lymphocytic leukaemia (CLL), now published in the journal Genome Medicine.

6 Feb 2015

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