Exon News and Research

RSS

Myriad and Clovis ink deal on FDA-approved BRACAnalysis CDx test to identify patients with germline BRCA mutations for rucaparib treatment

Myriad Genetics, Inc. and Clovis Oncology, Inc. have announced a companion diagnostic collaboration to support a post-marketing regulatory commitment related to Clovis’ PARP inhibitor, Rubraca. Financial terms of the deal were not disclosed.

3 May 2017

Researchers identify link between neuronal proteins and frontotemporal lobar degeneration

Frontotemporal lobar degeneration is a type of dementia characterized by personality changes, language dysfunction, and abnormal behavior. It has an earlier onset than Alzheimer's disease, and is associated with a buildup of the tau protein in affected nerve cells (neurons).

13 Feb 2017

New MIP system for therapeutic gene delivery can enhance transgene expression using AAV vector

Advanced engineering of a mini-intronic plasmid (MIP) system designed to carry a therapeutic gene can significantly enhance the expression of the transgene delivered using an adeno-associated viral (AAV) vector.

28 Jan 2017

Scientists discover truncated p53 proteins that promote cancer growth and metastasis

Discovered in the 1970s, tumor suppressors are among the most important proteins in the body.

8 Dec 2016

Penn researchers use CRISPR/Cas9 gene targeting approach to treat hemophilia B in mice

CRISPR/Cas9, a powerful genome editing tool, is showing promise for efficient correction of disease-causing mutations.

1 Dec 2016

Scientists develop easy-to-use software tool to detect important genetic mutations

Scientists have developed an easy-to-use software tool that can detect important genetic mutations that previously needed to be identified by a separate test.

29 Nov 2016

HC-based NGS helps detect genomic alterations not identified in routine lung cancer screening

The use of hybrid capture-based (HC-based) next-generation sequencing (NGS) to identify targetable oncogenic drivers in patients with lung adenocarcinoma results in the detection of genomic alterations (GAs) not identified in routine screening, and impacts treatment decisions and clinical outcomes.

17 Nov 2016

Study identifies potential pathway to improve rate at which the body burns calories

Researchers say they have identified a potential pathway in our muscle tissue to improve the rate at which our bodies burn calories.

1 Nov 2016

Immune system plays important role in Duchenne muscular dystrophy, research reveals

A new paper, co-written by faculty at Binghamton University, State University of New York, increases the understanding of Duchenne muscular dystrophy (DMD)—one of the most common lethal genetic disorders—and points to potential therapeutic approaches.

14 Oct 2016

Japanese researchers discover causative gene for common type of hearing loss

A causative gene for a highly common type of hearing loss (sensorineural hearing loss, or SNHL) has been identified by a group of Japanese researchers, who successfully replicated the condition using a transgenic mouse.

6 Oct 2016

Sarepta Therapeutics wins accelerated approval from FDA for Duchenne muscular dystrophy drug

The U.S. Food and Drug Administration today approved Exondys 51 (eteplirsen) injection, the first drug approved to treat patients with Duchenne muscular dystrophy (DMD).

19 Sep 2016

Study shows leptomeningeal metastases more prevalent in NSCLC patients with EGFR mutations

Leptomeningeal metastases (LM), a devastating complication and predictor of poor survival in lung cancer patients, was found to be more prevalent in non-small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutations.

16 Aug 2016

Liquid biopsies hold potential for detecting NSCLC EGFR mutations, predicting cancer recurrence

Three manuscripts published in the recent issue of the Journal of Thoracic Oncology, the official journal of the International Association for the Study of Lung Cancer, explored the versatility of liquid biopsies by identifying EGFR mutations using circulating tumor DNA (ctDNA) in urine and plasma and examining circulating tumor cells (CTCs) in plasma to predict the risk of lung cancer recurrence after surgical resection.

26 Jul 2016

ALK fusion variants could influence NSCLC crizotinib response

In non-small-cell lung cancer patients with anaplastic lymphoma kinase rearrangement treated with crizotinib, progression-free survival varies according to the ALK fusion variant.

1 Jul 2016

Rice University researchers synthesize new anti-cancer agent

Rice University scientists have synthesized a novel anti-cancer agent, Thailanstatin A, which was originally isolated from a bacterial species collected in Thailand.

20 Jun 2016

Researchers clarify cause of heart arrhythmia in myotonic dystrophy

An international joint research group found that the cause of heart arrhythmia in myotonic dystrophy was RNA abnormalities in the sodium channel in the heart, clarifying the symptom's mechanism. This finding will be helpful in prevention and early intervention of death in this disease, leading to the development of new treatment.

16 Jun 2016

FDA approves blood-based cobas EGFR Mutation Test v2 for NSCLC patients

The U.S. Food and Drug Administration today approved the cobas EGFR Mutation Test v2, a blood-based companion diagnostic for the cancer drug Tarceva (erlotinib). This is the first FDA-approved, blood-based genetic test that can detect epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer patients.

2 Jun 2016

Studies confirm benefit of plasma genotyping to predict treatment outcomes for NSCLC patients

The benefit of plasma genotyping to predict treatment benefit in patients with non-small-cell lung cancer (NSCLC) is confirmed in three studies presented today at the European Lung Cancer Conference (ELCC) 2016 in Geneva, Switzerland. Researchers however warned that plasma tests are unlikely to fully replace tissue biopsies.

18 Apr 2016

UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern Medical Center researchers have discovered a mutation that causes a rare systemic disorder known as X-linked reticulate pigmentary disorder (XLPDR) and, significantly, the unexpected cellular mechanism by which the mutation causes the disease.

29 Mar 2016

OGT launches new CytoSure Constitutional v3 +LOH array for genetic analysis of developmental disorders

Oxford Gene Technology, The Molecular Genetics Company, has announced the launch of its new CytoSure Constitutional v3 +LOH array for comprehensive genetic analysis of developmental delay disorders.

From Oxford Gene Technology 21 Mar 2016