Mutation News and Research

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Researchers uncover mechanism behind common mutation that helps cancer cells replicate limitlessly

More than 500,000 people in the United States die each year of cancer-related causes. Now, emerging research has identified the mechanism behind one of the most common mutations that help cancer cells replicate limitlessly.

19 May 2015

Study quantifies different mutational profiles of tumour cell clusters in patients with bowel cancer

Bowel cancer is often driven by mutations in one of several different genes, and a patient can have a cancer with a different genetic make-up to another patient's cancer. Identifying the molecular alterations involved in each patient's cancer enables doctors to choose drugs that best target specific alterations.

19 May 2015

Alnylam files clinical trial application for alpha-1 liver disease, presents data at DDW

Alnylam Pharmaceuticals, Inc. has announced that it has filed a Clinical Trial Application (CTA) with the U.K. Medicines and Healthcare products Regulatory Agency (MHRA) to initiate a Phase 1/2 clinical trial with ALN-AAT, a subcutaneously administered investigational RNAi therapeutic targeting alpha-1 antitrypsin (AAT) for the treatment of AAT deficiency-associated liver disease (alpha-1 liver disease).

19 May 2015

Studies support use of ThyraMIR and ThyGenX to improve detection of benign/malignant thyroid nodules

Data will be presented at both Digestive Disease Week (DDW) and the American Association of Clinical Endocrinologists (AACE) annual medical meetings.

18 May 2015

New blood test detects breast cancer metastasis earlier than is currently possible

Research findings from Lund University in Sweden now provide new hope for a way of detecting metastases significantly earlier than is currently possible.

18 May 2015

Combined therapy shows promise in cystic fibrosis patients

Treatment with two medications that target the most common genetic cause of cystic fibrosis improves lung function and lowers the rate of pulmonary exacerbations, according to the results from a Phase III international clinical trial published online in the New England Journal of Medicine on May 17, 2015.

17 May 2015

New genomics laboratory in Liberia enables scientists to monitor genetic changes in Ebola virus

Army scientists working to support the Ebola virus outbreak response in West Africa have established the first genomic surveillance capability in Liberia, enabling them to monitor genetic changes in the virus within one week of sample collection. An article describing their work was recently published ahead of print in the online edition of Emerging Infectious Diseases.

15 May 2015

Smoking-related DNA damage can be detected in cheek swabs

DNA damage caused by smoking can be detected in cheek swabs, finds research published today in JAMA Oncology. The study provides evidence that smoking induces a general cancer program that is also present in cancers which aren't usually associated with it - including breast and gynaecological cancers.

15 May 2015

Profiling normal DNA provides opportunity to identify inherited mutations

As the practice of genetically profiling patient tumors for clinical treatment decision making becomes more commonplace, a recent study from The University of Texas MD Anderson Cancer Center suggests that profiling normal DNA also provides an important opportunity to identify inherited mutations that could be critical for patients and their families.

15 May 2015

Scientists identify new molecules that destroy cancer cells, save healthy ones

Researchers have identified new molecules that kill cancer cells while protecting healthy cells and that could be used to treat a variety of different cancers. The research shines a light on what happens to cells at the moment they become cancerous.

15 May 2015

New test could identify resistant tuberculosis faster

Tuberculosis (TB) disease rates in some parts of London are as high as in Sub-Saharan Africa, and drug-resistant strains are becoming increasingly common.

From Oxford Gene Technology 14 May 2015

Researchers submit patent application for drug that could destroy acute lymphoblastic leukemia

A patent application for a drug that could destroy the deadly childhood disease known as acute lymphoblastic leukemia — and potentially other cancers as well — has been submitted by researchers at Sandia National Laboratories, the University of Maryland and the MD Anderson Cancer Center in Houston.

14 May 2015

Research finding could lead to better treatments for inflammatory bowel disease

Inflammatory bowel disease (IBD) afflicts 1.6 million people in the United States, causing abdominal pain, diarrhea, constipation, rectal bleeding and other potentially debilitating symptoms.

14 May 2015

UCL-led team develops new technique to find resistant TB faster

The time needed to genetically sequence the bacteria causing tuberculosis (Mtb) from patient samples has been reduced from weeks to days using a new technique developed by a UCL-led team. This could help health service providers to better treat disease, control transmission of this infection, and monitor outbreaks.

From Oxford Gene Technology 13 May 2015

Discovery could help identify molecules that selectively target cancer cells

A new family of molecules that kill cancer cells and protect healthy cells could be used to treat a number of different cancers, including cervical, breast, ovarian and lung cancers. Research published in EBioMedicine shows that as well as targeting and killing cancer cells, the molecules generate a protective effect against toxic chemicals in healthy cells.

13 May 2015

Australian researchers discover rogue germinal centre B cells that trigger autoimmune disease

Australian researchers believe they have discovered a group of cells that trigger autoimmune disease, as well as the molecular 'trigger guard' that normally holds them in check.

13 May 2015

Research paves way for development of individualized immunotherapy for treating cancer

Mainz-based researchers have made significant advances with regard to the development of individualized immunotherapy strategies for treating cancer. They have managed to identify the relevant genetic changes or mutations associated with various types of cancer and have determined their individual blueprints.

13 May 2015

Scientists uncover mechanism behind 'tubulin code'

Driving down the highway, you encounter ever-changing signs -- speed limits, exits, food and gas options. Seeing these roadside markers may cause you to slow down, change lanes or start thinking about lunch. In a similar way, cellular structures called microtubules are tagged with a variety of chemical markers that can influence cell functions.

13 May 2015

Novel insights into the genetics of autism

A study of 2,377 children with autism, their parents and siblings has revealed novel insights into the genetics of the condition.

12 May 2015

New study identifies gene that causes potentially fatal Adams-Oliver syndrome

A new study has separately confirmed and significantly built on recent research, identifying mutations of a gene that causes the uncommon but potentially fatal Adams-Oliver syndrome.

12 May 2015

Mutation News and Research

Researchers uncover mechanism behind common mutation that helps cancer cells replicate limitlessly

Study quantifies different mutational profiles of tumour cell clusters in patients with bowel cancer

Alnylam files clinical trial application for alpha-1 liver disease, presents data at DDW

Studies support use of ThyraMIR and ThyGenX to improve detection of benign/malignant thyroid nodules

New blood test detects breast cancer metastasis earlier than is currently possible

Combined therapy shows promise in cystic fibrosis patients

New genomics laboratory in Liberia enables scientists to monitor genetic changes in Ebola virus

Smoking-related DNA damage can be detected in cheek swabs

Profiling normal DNA provides opportunity to identify inherited mutations

Scientists identify new molecules that destroy cancer cells, save healthy ones

New test could identify resistant tuberculosis faster

Researchers submit patent application for drug that could destroy acute lymphoblastic leukemia

Research finding could lead to better treatments for inflammatory bowel disease

UCL-led team develops new technique to find resistant TB faster

Discovery could help identify molecules that selectively target cancer cells

Australian researchers discover rogue germinal centre B cells that trigger autoimmune disease

Research paves way for development of individualized immunotherapy for treating cancer

Scientists uncover mechanism behind 'tubulin code'

Novel insights into the genetics of autism

New study identifies gene that causes potentially fatal Adams-Oliver syndrome

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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