Mutation News and Research

RSS

Scientists discover genetic basis for CLOVES syndrome

Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder.

1 Jun 2012

Scientists determine 3-D structure of two circadian rhythm proteins

Howard Hughes Medical Institute scientists have determined the three-dimensional structure of two proteins that help keep the body's clocks in sync.

1 Jun 2012

Kindstar, Insight Genetics collaborate to improve cancer care in China

Molecular diagnostics company Insight Genetics and Kindstar Globalgene Technology, Inc., China's leading diagnostics company, today announced that the companies are partnering to enhance cancer care in the People's Republic of China and surrounding regions.

1 Jun 2012

Ventana, leading cancer researchers partner to commercialize novel IHC primary antibody

Ventana Medical Systems, Inc., a member of the Roche Group, has signed an exclusive license agreement with the German Cancer Research Center and University Hospital Heidelberg, Germany to commercialize a novel immunohistochemistry (IHC) primary antibody developed by researchers Andreas von Deimling, MD, Hanswalter Zentgraf, PhD and David Capper, MD, to detect the V600E BRAF mutation protein.

1 Jun 2012

Oncothyreon commences PX-866 and vemurafenib Phase 1/2 combination trial for melanoma

Oncothyreon Inc. today announced the initiation of a Phase 1/2 trial of PX-866 in combination with vemurafenib.

1 Jun 2012

Too much salt and aldosterone leads to high blood pressure, tissue damage

Nearly 40 percent of the small adrenal tumors that cause big problems with high blood pressure share a genetic mutation that causes patients to retain too much sodium, researchers report.

31 May 2012

UCLA research projects aim to improve lives of children with serious illnesses

New hope for deadly pediatric brain tumors; opening the door to improved diagnosis and treatment of epilepsy in children; and advanced genetic testing to better understand the causes of autism and cancer in kids. These research projects are currently underway at Mattel Children's Hospital UCLA under the umbrella of the UCLA Children's Discovery and Innovation Institute (CDI), and aim to dramatically improve the lives of children with serious illnesses.

31 May 2012

Simple blood test can detect genetic faults in patients with cancer

A simple and cost-effective blood test could be used to monitor how a patient is responding to treatment and detect genetic faults in their cancer as they happen, according to a Cancer Research UK study.

31 May 2012

Study shows how tafamidis drug works against amyloid disease

Scientists from The Scripps Research Institute and Pfizer Inc. have published a new study showing how a new drug called tafamidis (Vyndaqel) works.

31 May 2012

Gender link discovered for colorectal cancer

Researchers have identified three new colorectal cancer risk loci, including one on the X-chromosome, bringing the total number of independent loci associated with the disease to 20.

30 May 2012

Omixon Target, a next generation sequencing analysis software for targeted sequencing, released by Omixon

Today Omixon – a genomic software company - announced the commercial release of Omixon Target, a next generation sequencing analysis software for targeted sequencing. Omixon built its new software Target with the vision of helping diagnostic labs to adopt next generation sequencing to replace and complement traditional capillary Sanger sequencing.

30 May 2012

Beyond chemotherapy to cure leukemia

The fight against cancer is not won in a single battle: long after a cancer has been beaten into remission, it can return. The reason for this is under debate, and much is unclear.

30 May 2012

Corrected interim data from Vertex VX-809, KALYDECO combination Phase 2 study for CF

Vertex Pharmaceuticals Incorporated announced today a correction to the previously reported responder analysis, as well as additional data from, the recent interim analysis of an ongoing Phase 2 study of VX-809 and KALYDECO that showed significant improvements in lung function among adults with cystic fibrosis who have two copies of the most common mutation in the cystic fibrosis transmembrane conductance regulator gene, F508del.

30 May 2012

GPUs simulate molecular processes during swine flu drug treatment

Professor Adrian Mulholland and Dr Christopher Woods from Bristol's School of Chemistry, together with colleagues in Thailand, used graphics processing units (GPUs) to simulate the molecular processes that take place when these drugs are used to treat the H1N1-2009 strain of influenza - commonly known as 'swine flu'.

30 May 2012

Genetic analysis on Korean mummy reveals unique HBV genotype C2 sequence

The discovery of a mummified Korean child with relatively preserved organs enabled an Israeli-South Korean scientific team to conduct a genetic analysis on a liver biopsy which revealed a unique hepatitis B virus (HBV) genotype C2 sequence common in Southeast Asia.

30 May 2012

Researchers uncover insights into rare genetic disorders

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called cohesinopathies.

30 May 2012

Scientists solve 50-year mystery behind cholera

For 50 years scientists have been unsure how the bacteria that gives humans cholera manages to resist one of our basic innate immune responses. That mystery has now been solved, thanks to research from biologists at The University of Texas at Austin.

30 May 2012

Scientists show why leukemia often returns

The fight against cancer is not won in a single battle: Long after a cancer has been beaten into remission, it can return. The reason for this is under debate, and much is unclear. New research led by Weizmann Institute scientists shows that, at least for one type of blood cancer, the source of cancer recurrence is in a set of cells that do not proliferate as quickly as regular cancer cells, and thus able to survive chemotherapy.

30 May 2012

MD Bioproducts launches new subtype specific antibody as marker for AS

MD Bioproducts launches a new subtype specific antibody as a marker for ankylosing spondylitis (AS): HLA-B*2705. The anti-HLA-B*2705 antibody, clone MARB4, has been validated for use in flow cytometry, tissue staining and immunoprecipitation.

30 May 2012

Scientists identify 20 distinct gene mutations in patients with FGD

A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.

30 May 2012