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Brown University researchers describe new method to test HIV mutations

Tests that can distinguish whether HIV-positive people are infected with a drug-resistant strain or a non-resistant strain allow patients to get the most effective treatment as quickly as possible. In the November edition of the Journal of Molecular Diagnostics, a team of Brown University researchers describes a new method that works faster and more sensitively in lab testing than the current standard technologies.

16 Oct 2015

Study reveals gene mutation that increases risk of SUDEP in patients with mild forms of disease

Researchers in the Adult Genetic Epilepsy Program of the Krembil Neuroscience Centre have discovered a gene mutation that increases the risk of sudden unexpected death in epilepsy (SUDEP) in patients with mild forms of the disease.

16 Oct 2015

Analysis of high-throughput sequencing data reveals new genes linked to chronic lymphocytic leukemia

Johannes Reiter, former PhD student in the group of Krishnendu Chatterjee at the Institute of Science and Technology Austria (IST Austria), is co-author of a Nature paper on genetic alterations that drive the progression and relapse of cancer.

16 Oct 2015

Rare genetic mutation could improve outcomes in NSCLC patients with brain metastases

Most patients with non-small cell lung cancer (NSCLC) that has metastasized to the brain have a dire prognosis. But Yale researchers have identified a subset of those patients with a rare genetic mutation who are living significantly longer than patients without the mutation.

16 Oct 2015

WHO officials hope to eradicate polio by 2024

Shortly after the successful global Smallpox Eradication Programme (SEP) in the 80's, world leaders and public health officials announced a plan to eradicate poliomyelitis (polio) off the face of the Earth; the Pan American Health Organization and the World Health Organization (WHO) together championed the cause.

16 Oct 2015

EKF’s PointMan™ used in cancer biopsy research

EKF, announces results from a study involving EKF Molecular’s PointMan™ DNA enrichment technology have been published in Clinical Cancer Research.

From EKF Diagnostics 15 Oct 2015

Gene therapy preserves vision in canine model of late-stage retinitis pigmentosa

Gene therapy preserved vision in a study involving dogs with naturally occurring, late-stage retinitis pigmentosa, according to research funded by the National Eye Institute (NEI), part of the National Institutes of Health. The findings contribute to the groundwork needed to move gene therapy forward into clinical trials for people with the blinding eye disorder, for which there is currently no cure.

15 Oct 2015

New hope for patients with Duchenne muscular dystrophy

New hope for Duchenne muscular dystrophy (DMD) patients. A mouse genetic study in PLoS Medicine reports that targeting the P2RX7 gene, a purinoreceptor, may halt the progression of DMD.

14 Oct 2015

Researchers identify new therapeutic target for Duchenne muscular dystrophy

Scientists have found what could one day lead to a promising treatment for those with a crippling disease, Duchenne muscular dystrophy.

14 Oct 2015

New breakthrough may provide key to understanding how to treat Muscular Dystrophy

New research published today in the journal eLife has demonstrated a new method for observing the behaviour of the protein Dystrophin in a living animal cell, in real-time. This breakthrough may provide a key to understanding how to treat the genetic disease, Muscular Dystrophy.

14 Oct 2015

Forces in external environmental and oxidation are greatest threats to DNA, study finds

A study led by Indiana University biologist Patricia Foster and colleagues has found that forces in the external environment and oxidation are the greatest threats to an organism's ability to repair damage to its own DNA.

14 Oct 2015

Quest Diagnostics scientists demonstrate new molecular combing technique that predicts cystic fibrosis, muscular dystrophy

Genetic testing for mutations beyond those currently recommended in medical guidelines may aid the identification of more couples at risk of having a child with cystic fibrosis, according to a study presented today at the 2015 American Society of Human Genetics Annual Meeting, which runs through October 10 in Baltimore, Maryland.

From Quest Diagnostics 13 Oct 2015

Quest Diagnostics provides Dako’s PD-L1 complementary diagnostic test for non-squamous non-small cell carcinoma

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced that it now provides clinical laboratory testing using the PD-L1 IHC 28-8 pharmDx immunohistochemistry test, available through Dako, an Agilent Technologies company.

From Quest Diagnostics 13 Oct 2015

ATA announces research grants to support projects proposed by young researchers

The American Thyroid Association is pleased to announce that grants have been awarded to support projects proposed by leading young researchers. Three of these projects involve the genetic analysis of thyroid tumors carrying the BRAFV600E mutation, which is associated with the development of some forms of thyroid cancer and increased risk for distant metastases, more advanced disease, and higher mortality.

13 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

Penn researchers show that canine X-linked retinitis pigmentosa can be cured over the long term

Three years ago, a team from the University of Pennsylvania announced that they had cured X-linked retinitis pigmentosa, a blinding retinal disease, in dogs. Now they've shown that they can cure the canine disease over the long term, even when the treatment is given after half or more of the affected photoreceptor cells have been destroyed.

13 Oct 2015

Prostate Cells Undergo 'Reprogramming' To Form Tumors, Study Finds

Scientists have gained a key insight into how prostate tumors get their start - not by rewriting the normal DNA code, but by reprogramming the master regulator of genes in prostate cells to drive malignant growth.

12 Oct 2015

Study identifies four distinct types of bowel cancer

Bowel cancer can be divided up into four distinct diseases, each with its own set of biological characteristics, a major new study reports.

12 Oct 2015

Sequenom signs clinical collaboration with University Medical Center Hamburg-Eppendorf

Sequenom, Inc., a life sciences company committed to enabling healthier lives through the development of innovative products and services, today announced that it has entered into a clinical collaboration with University Medical Center Hamburg-Eppendorf (UKE) in Germany.

12 Oct 2015

Human malaria parasite molecules share key gene segments with chimp, gorilla malaria parasites

The malaria parasite molecules associated with severe disease and death--those that allow the parasite to escape recognition by the immune system--have been shown to share key gene segments with chimp and gorilla malaria parasites, which are separated by several millions of years, according to a new study led by Harvard T.H. Chan School of Public Health.

12 Oct 2015

Mutation News and Research

Brown University researchers describe new method to test HIV mutations

Study reveals gene mutation that increases risk of SUDEP in patients with mild forms of disease

Analysis of high-throughput sequencing data reveals new genes linked to chronic lymphocytic leukemia

Rare genetic mutation could improve outcomes in NSCLC patients with brain metastases

WHO officials hope to eradicate polio by 2024

EKF’s PointMan™ used in cancer biopsy research

Gene therapy preserves vision in canine model of late-stage retinitis pigmentosa

New hope for patients with Duchenne muscular dystrophy

Researchers identify new therapeutic target for Duchenne muscular dystrophy

New breakthrough may provide key to understanding how to treat Muscular Dystrophy

Forces in external environmental and oxidation are greatest threats to DNA, study finds

Quest Diagnostics scientists demonstrate new molecular combing technique that predicts cystic fibrosis, muscular dystrophy

Quest Diagnostics provides Dako’s PD-L1 complementary diagnostic test for non-squamous non-small cell carcinoma

ATA announces research grants to support projects proposed by young researchers

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

Penn researchers show that canine X-linked retinitis pigmentosa can be cured over the long term

Prostate Cells Undergo 'Reprogramming' To Form Tumors, Study Finds

Study identifies four distinct types of bowel cancer

Sequenom signs clinical collaboration with University Medical Center Hamburg-Eppendorf

Human malaria parasite molecules share key gene segments with chimp, gorilla malaria parasites

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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