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

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. [More]
Scientists develop easy-to-use software tool to detect important genetic mutations

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. [More]
HC-based NGS helps detect genomic alterations not identified in routine lung cancer screening

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. [More]
Study identifies potential pathway to improve rate at which the body burns calories

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. [More]
Immune system plays important role in Duchenne muscular dystrophy, research reveals

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. [More]
Japanese researchers discover causative gene for common type of hearing loss

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. [More]
Sarepta Therapeutics wins accelerated approval from FDA for Duchenne muscular dystrophy drug

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). [More]
Study shows leptomeningeal metastases more prevalent in NSCLC patients with EGFR mutations

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. [More]
Liquid biopsies hold potential for detecting NSCLC EGFR mutations, predicting cancer recurrence

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. [More]
ALK fusion variants could influence NSCLC crizotinib response

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. [More]
Rice University researchers synthesize new anti-cancer agent

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. [More]
Researchers clarify cause of heart arrhythmia in myotonic dystrophy

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. [More]
FDA approves blood-based cobas EGFR Mutation Test v2 for NSCLC patients

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. [More]
Studies confirm benefit of plasma genotyping to predict treatment outcomes for NSCLC patients

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. [More]
UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

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. [More]
OGT launches new CytoSure Constitutional v3 +LOH array for genetic analysis of developmental disorders

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. [More]
Rare ADCY9 mutations linked to non-syndromic oral clefts in Puerto Ricans

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. [More]
Tick genome study sheds light on occurrences of Lyme disease

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. [More]
Penn investigators devise new method to map 'transcriptome'

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

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. [More]
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