Mutation News and Research

RSS

Agena Bioscience expands ultrasensitive somatic mutation detection technology

Agena Bioscience, Inc., which recently acquired the Bioscience business of Sequenom, Inc., today announced expansion of the UltraSEEK™ technology, the first ultrasensitive somatic mutation detection technology for high-throughput and definitive interrogation of rare mutations that occur at less than 1% abundance in matched tissue, circulating plasma, and tumor samples.

31 May 2014

Agena Bioscience acquires Sequenom’s Bioscience business

Agena Bioscience, Inc., a portfolio company of Telegraph Hill Partners (THP), today acquired the Bioscience business of Sequenom, Inc., which sells the MassARRAY® System for mass spectrometry-based detection of nucleic acids in research and clinical laboratories.

31 May 2014

Appistry announces agreement with PGDx to include CancerSelect panel in Appistry CloudDx

Appistry, Inc., a leading provider of tools, software, and services that bring the power of genomics to next-generation medicine, today announced an agreement with Personal Genome Diagnostics (PGDx) to include the company's CancerSelect™ panel in Appistry's recently released Appistry CloudDx™ genomics testing service.

31 May 2014

Genetic changes can predict which patient will benefit from chemotherapy before bladder cancer surgery

Three genetic changes can predict whether a patient will benefit from chemotherapy before surgery to remove bladder cancer, according to new findings presented by Fox Chase Cancer Center researchers during the 50th Annual Meeting of the American Society of Clinical Oncology.

31 May 2014

EKF, GILUPI report data on circulating tumour cell DNA enrichment, mutation detection

EKF and GILUPI, announce results from collaborative work using GILUPI CellCollector and EKF Molecular’s PointMan DNA Enrichment technology.

From EKF Diagnostics 30 May 2014

Gene regulation responsible for normal breast tissue may also play role in cancer development

About one in eight women in the United States will contract breast cancer in her lifetime. Now new research from Tel Aviv University-affiliated researchers, in collaboration with Johns Hopkins University, has provided another tool to help women, clinicians, and scientists searching for a cure to the one of the most widespread yet incurable diseases on the planet.

30 May 2014

Researchers identify new therapeutic target for treating most common form of eye cancer

Researchers at the University of California, San Diego School of Medicine have identified a therapeutic target for treating the most common form of eye cancer in adults. They have also, in experiments with mice, been able to slow eye tumor growth with an existing FDA-approved drug.

30 May 2014

Rare type of melanoma that attacks palms, soles twice likely to recur, says NYU study

A rare type of melanoma that disproportionately attacks the palms and soles and under the nails of Asians, African-Americans, and Hispanics, who all generally have darker skins, and is not caused by sun exposure, is almost twice as likely to recur than other similar types of skin cancer, according to results of a study in 244 patients.

30 May 2014

New insights into egg selection may have broad implications for women's health, fertility

A woman's supply of eggs is a precious commodity because only a few hundred mature eggs can be produced throughout her lifetime and each must be as free as possible from genetic damage.

30 May 2014

New research shows how misfolded proteins are precisely selected for degradation

It's almost axiomatic that misfolded proteins compromise how cells normally function and cause debilitating human disease, but how these proteins are detected and degraded within the body is not well understood.

30 May 2014

New powerful tool helps identify disease-causing mutations in families

Scientists at the University of Utah (U of U), the University of Texas MD Anderson Cancer Center in Houston and colleagues have developed a powerful tool called pVAAST that combines linkage analysis with case control association to help researchers and clinicians identify disease-causing mutations in families faster and more precisely than ever before.

30 May 2014

Study reveals how BTK mutation triggers drug resistance in CLL patients

A multi-institutional team of researchers has pinpointed exactly what goes wrong when chronic lymphocytic leukemia (CLL) patients develop resistance to ibrutinib, a highly effective, precisely targeted anti-cancer drug.

29 May 2014

Study defines specific genetic mechanism that explains some of schizophrenia's heritability

The overall number and nature of mutations—rather than the presence of any single mutation—influences an individual's risk of developing schizophrenia, as well as its severity, according to a discovery by Columbia University Medical Center researchers published in the latest issue of Neuron.

29 May 2014

Transgenomic signs license with Dana-Farber to develop multiplexed ICE COLD-PCR technology

Transgenomic, Inc., a global biotechnology company advancing personalized medicine in cardiology, oncology, and inherited diseases through advanced diagnostic tests and clinical and research services, today announced that it has signed a license with the Dana-Farber Cancer Institute for worldwide rights to develop and commercialize multiplexed versions of its ICE COLD-PCRTM technology (MX ICE COLD-PCR).

28 May 2014

Findings may help medical researchers identify effective drug targets for triple negative breast cancer

The suppression of two genes reduce breast cancer tumor formation and metastasis by interfering with blood vessel formation and recruitment, report scientists from Houston Methodist and five other institutions in the Proceedings of the National Academy of Sciences (now online).

28 May 2014

Scientists find interplay between two specific proteins crucial for flawless repair of crosslink damage

Environmental influences such as ionizing radiation, intense heat or various chemical substances damage the DNA constantly.

27 May 2014

New study of how biodiversity arises

A new study of how biodiversity arises, by evolutionary biologists at the University of Massachusetts Amherst, shows how a mutation in a single gene during development can lead to different consequences not only in how animals' skull and jaw are shaped, but how this leads to different feeding strategies to exploit different ecological niches.

27 May 2014

Mice with 'mohawk hairstyles' reveal clues to development of autism

"Aha" moments are rare in medical research, scientists say. As rare, they add, as finding mice with Mohawk-like hairstyles.

26 May 2014

Researchers identify mutated gene common to rare form of pancreatic cancer

Researchers at the University of California, San Diego School of Medicine have identified a mutated gene common to adenosquamous carcinoma (ASC) tumors - the first known unique molecular signature for this rare, but particularly virulent, form of pancreatic cancer.

26 May 2014

EMA's CHMP gives positive opinion for PTC Therapeutics' Translarna

PTC Therapeutics, Inc. today announced that following its request for re-examination, the Committee for Medicinal Products for Human Use of the European Medicines Agency has adopted a positive opinion regarding the company's application for a conditional marketing authorization of Translarna (ataluren) for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD) in ambulatory patients aged five years and older.

23 May 2014

Mutation News and Research

Agena Bioscience expands ultrasensitive somatic mutation detection technology

Agena Bioscience acquires Sequenom’s Bioscience business

Appistry announces agreement with PGDx to include CancerSelect panel in Appistry CloudDx

Genetic changes can predict which patient will benefit from chemotherapy before bladder cancer surgery

EKF, GILUPI report data on circulating tumour cell DNA enrichment, mutation detection

Gene regulation responsible for normal breast tissue may also play role in cancer development

Researchers identify new therapeutic target for treating most common form of eye cancer

Rare type of melanoma that attacks palms, soles twice likely to recur, says NYU study

New insights into egg selection may have broad implications for women's health, fertility

New research shows how misfolded proteins are precisely selected for degradation

New powerful tool helps identify disease-causing mutations in families

Study reveals how BTK mutation triggers drug resistance in CLL patients

Study defines specific genetic mechanism that explains some of schizophrenia's heritability

Transgenomic signs license with Dana-Farber to develop multiplexed ICE COLD-PCR technology

Findings may help medical researchers identify effective drug targets for triple negative breast cancer

Scientists find interplay between two specific proteins crucial for flawless repair of crosslink damage

New study of how biodiversity arises

Mice with 'mohawk hairstyles' reveal clues to development of autism

Researchers identify mutated gene common to rare form of pancreatic cancer

EMA's CHMP gives positive opinion for PTC Therapeutics' Translarna

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News