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Exome sequencing improves diagnosis of mitochondrial disease

Exome sequencing improves diagnosis of mitochondrial disease

Use of exome sequencing improved the ability to identify the underlying gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes (enzymes that are involved in basic energy production), according to a study in the July 2 issue of JAMA. [More]
patients with KRAS wild-type MCRC can benefit from Cetuximab Or Bevacizumab With Combi Chemo Equivalent For patients with KRAS wild-type MCRC

patients with KRAS wild-type MCRC can benefit from Cetuximab Or Bevacizumab With Combi Chemo Equivalent For patients with KRAS wild-type MCRC

For patients with KRAS wild-type untreated colorectal cancer, adding cetuximab or bevacizumab to combination chemotherapy offers equivalent survival, researchers said at the ESMO 16th World Congress on Gastrointestinal Cancer in Barcelona. [More]
Memorial Sloan Kettering Cancer Center, Quest Diagnostics partner for cancer tests

Memorial Sloan Kettering Cancer Center, Quest Diagnostics partner for cancer tests

Memorial Sloan Kettering Cancer Center, the world's oldest and largest private cancer center, and Quest Diagnostics, the world's leading provider of diagnostic information services, today announced a joint collaboration that will utilize MSK's clinical and research insights into gene mutations associated with solid tumors. [More]
Amgen presents extended analysis of PEAK study data at ASCO

Amgen presents extended analysis of PEAK study data at ASCO

Amgen today announced results from the Phase 2 PEAK study that reinforce the improved overall survival (OS) benefit of panitumumab (Vectibix®) when used in combination with FOLFOX, an oxaliplatin-based chemotherapy regimen, compared to bevacizumab (Avastin) plus FOLFOX as first-line treatment in patients with wild-type RAS metastatic colorectal cancer (mCRC). [More]
Researchers identify heart-specific form of protein that protects against irregular heartbeats

Researchers identify heart-specific form of protein that protects against irregular heartbeats

Researchers at the Cedars-Sinai Heart Institute have identified a heart-specific form of a protein, BIN1, responsible for sculpting tiny folds in pockets that are present on the surface of heart muscle cells. [More]
Sarepta Therapeutics plans to submit eteplirsen NDA for treatment of Duchenne muscular dystrophy

Sarepta Therapeutics plans to submit eteplirsen NDA for treatment of Duchenne muscular dystrophy

Sarepta Therapeutics, Inc., a developer of innovative RNA-based therapeutics, today announced it plans to submit a New Drug Application (NDA) to the U.S. Food and Drug Administration by the end of 2014 for the approval of eteplirsen for the treatment of Duchenne muscular dystrophy (DMD). [More]
Researchers demonstrate accurate identification of amino acids

Researchers demonstrate accurate identification of amino acids

Some three billion base pairs make up the human genome-the floor plan of life. In 2003, the Human Genome Project announced the successful decryption of this code, a tour de force that continues to supply a stream of insights relevant to human health and disease. [More]
Study highlights the importance of personalized medicine for treating cancer

Study highlights the importance of personalized medicine for treating cancer

If a driver is traveling to New York City, I-95 might be their route of choice. But they could also take I-78, I-87 or any number of alternate routes. Most cancers begin similarly, with many possible routes to the same disease. A new study found evidence that assessing the route to cancer on a case-by-case basis might make more sense than basing a patient's cancer treatment on commonly disrupted genes and pathways. [More]
Small non-coding RNAs can help predict individuals with breast cancer

Small non-coding RNAs can help predict individuals with breast cancer

Small non-coding RNAs can be used to predict if individuals have breast cancer conclude researchers who contribute to The Cancer Genome Atlas project. The results, which are published in EMBO reports, indicate that differences in the levels of specific types of non-coding RNAs can be used to distinguish between cancerous and non-cancerous tissues. These RNAs can also be used to classify cancer patients into subgroups of individuals that have different survival outcomes. [More]
Novel HER2 mutation identified in familial lung adenocarcinomas

Novel HER2 mutation identified in familial lung adenocarcinomas

Researchers have identified a novel germline mutation in the transmembrane domain of the human epidermal growth factor receptor 2 gene in familial lung adenocarcinomas. [More]
European Commission approves update of Erbitux  to treat patients with RAS wild-type mCRC

European Commission approves update of Erbitux to treat patients with RAS wild-type mCRC

Merck Serono, the biopharmaceutical division of Merck, today announced that the European Commission has approved the Type II variation to amend the Erbitux(cetuximab) product information, updating the indication for Erbitux to the treatment of patients with RAS wild-type metastatic colorectal cancer (mCRC). [More]
New treatment needed for women with HER2- and hormone receptor-positive breast cancer with PIK3CA mutation

New treatment needed for women with HER2- and hormone receptor-positive breast cancer with PIK3CA mutation

Women with breast cancer characterized by high levels of the protein HER2 and hormone receptors gained much less benefit from presurgery treatment with chemotherapy and HER2-targeted therapies if their cancer had one or more mutations in the PIK3CA gene, according to results presented here at the 2013 San Antonio Breast Cancer Symposium, held Dec. 10-14. [More]
Genetic diagnostic test for inherited eye diseases now available from Mass. Eye and Ear

Genetic diagnostic test for inherited eye diseases now available from Mass. Eye and Ear

The Massachusetts Eye and Ear/Harvard Medical School Department of Ophthalmology today announced the availability of a comprehensive genetic diagnostic test for inherited eye diseases. [More]
AMP 2013: EKF Molecular Diagnostics to launch four new PointMan DNA enrichment kits

AMP 2013: EKF Molecular Diagnostics to launch four new PointMan DNA enrichment kits

EKF Diagnostics, the global diagnostics business, announces that EKF Molecular Diagnostics will launch four new PointMan DNA enrichment kits at the Association for Molecular Pathology Annual Meeting (AMP 2013), 14-16th November, Phoenix, AZ. [More]
Study indicates that RNA translation is dictated by translational hotspots

Study indicates that RNA translation is dictated by translational hotspots

Protein synthesis in the extensions of nerve cells, called dendrites, underlies long-term memory formation in the brain, among other functions. "Thousands of messenger RNAs reside in dendrites, yet the dynamics of how multiple dendrite messenger RNAs translate into their final proteins remain elusive," says James Eberwine, PhD, professor of Pharmacology, Perelman School of Medicine at the University of Pennsylvania, and co-director of the Penn Genome Frontiers Institute. [More]
Gentris expands genomic biomarker offering with launch of Affymetrix GeneChip HTA services

Gentris expands genomic biomarker offering with launch of Affymetrix GeneChip HTA services

Gentris Corporation, a global leader in pharmacogenomics and biorepository solutions, announced today that it is expanding its genomic biomarker offering with the launch of Affymetrix GeneChip Human Transcriptome Array services. [More]
Biomarker analysis of Vectibix for mCRC published in New England Journal of Medicine

Biomarker analysis of Vectibix for mCRC published in New England Journal of Medicine

Amgen today announced the publication of a biomarker analysis of Vectibix (panitumumab) in combination with FOLFOX, a type of oxaliplatin-based chemotherapy, for the first-line treatment of patients with metastatic colorectal cancer. [More]
BTNL2 gene mutation that impacts immune function increases risk of prostate cancer

BTNL2 gene mutation that impacts immune function increases risk of prostate cancer

​A team of researchers led by Janet Stanford, Ph.D., of Fred Hutchinson Cancer Research Center has discovered that mutations in the gene BTNL2, which encodes a protein involved in regulating T-cell proliferation and cytokine production - both of which impact immune function - increase the risk of developing prostate cancer. [More]
UTHealth researchers find cause for rare type of bleeding disorder

UTHealth researchers find cause for rare type of bleeding disorder

Fifteen years ago, a hematologist came to Dianna Milewicz, M.D., Ph.D., with a puzzle: Multiple generations of an East Texas family suffered from a moderately severe bleeding disorder, but it wasn't hemophilia. [More]
Sigma Life Science releases genome editing tool for screening and exploratory studies

Sigma Life Science releases genome editing tool for screening and exploratory studies

Sigma-Aldrich Corporation today announced that Sigma Life Science, its innovative biological products and services business, released Sigma CRISPRs, an inexpensive mammalian genome editing tool suitable for screening and exploratory studies. [More]