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Rare ADCY9 mutations linked to non-syndromic oral clefts in Puerto Ricans

Today at the 45th Annual Meeting & Exhibition of the American Association for Dental Research, researcher Carmen Buxó-Martínez, University of Puerto Rico, San Juan, will present a study titled "Identification of Rare ADCY9 Mutations and Non-syndromic Oral Clefts in Puerto Ricans." The AADR Annual Meeting is being held in conjunction with the 40th Annual Meeting of the Canadian Association for Dental Research.

19 Mar 2016

Tick genome study sheds light on occurrences of Lyme disease

After a decade-long research effort the genome of the deer tick has been sequenced by an international team of scientists, including researchers from the SIB Swiss Institute of Bioinformatics.

12 Feb 2016

Penn investigators devise new method to map 'transcriptome'

A new way of mapping the "transcriptome" -- the collection of RNA read-outs that are expressed by a cell's active genes -- has been devised by researchers from the Perelman School of Medicine at the University of Pennsylvania.

10 Feb 2016

Duchenne muscular dystrophy: direct effect on muscle stem cells? An interview with Dr Rudnicki

For twenty years, it has been understood that dystrophin is expressed in differentiated muscle fibers where it is part of a protein complex that crosses the membrane and connects the extracellular matrix to the actin network inside the cell to provide structural integrity.

5 Feb 2016

Alternative splicing: a new approach to drug development? An interview with Lucy Donaldson

RNA is becoming an interesting drug target as it takes possible intervention back one step to the synthesis of a target protein, instead of trying to block or inhibit a process.

1 Feb 2016

Adjuvant Chemotherapy Colon Cancer Trials Should ‘Stratify By MSI, KRAS, BRAF’

A post hoc analysis of the PETACC-8 trial has revealed an interaction between microsatellite instability and BRAF and KRAS mutation status when determining the prognosis of patients with resected stage III colon adenocarcinoma.

22 Jan 2016

Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

Researchers have used CRISPR to treat an adult mouse model of Duchenne muscular dystrophy. This marks the first time that CRISPR has successfully treated a genetic disease inside a fully developed living mammal with a strategy that has the potential to be translated to human therapy.

4 Jan 2016

Mirati announces initiation of glesatinib Phase 2 clinical trial in NSCLC patients

Mirati Therapeutics, Inc. today announced that the Phase 2 clinical trial of glesatinib (MGCD265) has commenced. The Company also announced that "glesatinib" is the proposed generic name for MGCD265.

21 Dec 2015

Researchers find new way to prevent or reduce pathologies caused by malformed proteins

Improperly formed proteins can cause a host of serious illnesses, from muscular dystrophy to cystic fibrosis. A question of enormous import in research, beyond the challenge of determining how malformed proteins contribute to specific disease processes, is figuring out ways to prevent or reduce the pathologies they cause.

16 Dec 2015

New study finds a reason for ethnic disparity in CF diagnoses

Cystic fibrosis (CF) occurs less frequently in nonwhites than in whites, and nonwhites tend to be diagnosed at a later age. This late diagnosis often comes only once they have become symptomatic, rather than through newborn screening programs or molecular diagnostic testing.

16 Dec 2015

Could statins treat muscular dystrophy? An interview with Dr. Nick Whitehead and Dr Stan Froehner

In addition to their well established cholesterol lowering benefits, statins also have potent anti-inflammatory, anti-fibrotic and antioxidant effects, which continue to be identified in a wide range of diseases.

30 Nov 2015

IASLC commends FDA's decision to grant accelerated approval for new lung cancer therapy

The International Association for the Study of Lung Cancer commends the U.S. Food and Drug Administration's (FDA) decision to grant accelerated approval for osimertinib (Tagrisso), an oral medication for advanced non-small cell lung cancer (NSCLC) patients with a specific epidermal growth factor receptor (EGFR) mutation (T790M) and following progression after previous EGFR inhibitor therapies.

17 Nov 2015

Baylor Miraca Genetics Laboratories licenses SNP probe technology from OGT

Oxford Gene Technology (OGT), The Molecular Genetics Company, has entered into a deal with Baylor Miraca Genetics Laboratories (BMGL), licensing the use of OGT’s proprietary single nucleotide polymorphism (SNP) array probe technology.

From Oxford Gene Technology 12 Nov 2015

Resistance to CD19 CAR T-cell therapy can be caused by CD19 splicing alterations

Resistance to CD19 CAR T-cell therapy, a type of immunotherapy that yields long-lasting remissions in many patients with B-cell leukemia, can be caused by CD19 splicing alterations, leading to loss of certain parts of the CD19 protein that are recognized by the CAR T cells.

31 Oct 2015

Early trial results in lung cancer

Results from early phase trials investigating different therapeutic agents in lung cancer patients were presented during the third Presidential Session at the European Cancer Congress in Vienna, Austria. Here we summarise two studies reported at the session.

22 Oct 2015

Study: RNA editing technique shows promise in treating rare, severe form of muscular dystrophy

An RNA editing technique called "exon skipping" has shown preliminary success in treating a rare and severe form of muscular dystrophy that currently has no treatment, based on a new study from Northwestern Medicine and the University of Chicago. Children with the disease lose significant muscle strength early in life.

13 Oct 2015

Roche launches the cobas EGFR Mutation Test v2 for use with either plasma or tumour tissue samples

Roche has announced the commercial availability in countries that accept the CE mark1 of the cobas® EGFR Mutation Test v2, the first oncology assay from Roche that utilises either plasma or tumour tissue as a sample. The test identifies 42 mutations in the epidermal growth factor receptor (EGFR) gene, the most of any In-vitro Diagnostic (IVD) on the market, and can also be used as an aid in selecting eligible patients with non-small cell lung cancer (NSCLC) for therapy with an EGFR tyrosine kinase inhibitor (TKI).

From Roche Sequencing and Life Science 28 Sep 2015

New whitepaper describes benefits of using OGT’s CytoSure Medical Research Exome Array in genetic research

Oxford Gene Technology, The Molecular Genetics Company, has been speaking to genetic scientists, Dr Tracey Lewis (Associated Regional and University Pathologists Laboratories) and Dr Emily Farrow (Children’s Mercy Hospital), in a new whitepaper entitled “Examining the Medical Exome”.

From Oxford Gene Technology 15 Sep 2015

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

About 3% of colorectal cancers are due to Lynch syndrome, an inherited cancer susceptibility syndrome that predisposes individuals to various cancers. Close blood relatives of patients with Lynch syndrome have a 50% chance of inheritance. The role that PMS2 genetic mutations play in Lynch syndrome has been underestimated in part due to technological limitations.

27 Aug 2015

FDA, EMA accept filing applications for Boehringer Ingelheim's afatinib to treat patients with advanced SCC of the lung

Boehringer Ingelheim today announced that both the U.S. Food and Drug Administration and the European Medicines Agency have accepted filing applications for afatinib for the treatment of patients with advanced squamous cell carcinoma (SCC) of the lung progressing after treatment with first-line chemotherapy.

26 Aug 2015