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Role for endogenous retrovirus proposed in ALS pathogenesis

Expression of the human endogenous retrovirus-K is upregulated in some patients with sporadic amyotrophic lateral sclerosis and causes degeneration of motor neurons when overexpressed in mice, research shows.

9 Oct 2015

Scientists engineer stem cells to better understand mechanisms behind leukemia

Scientists engineered stem cells to better understand the mechanisms behind a form of leukemia caused by changes in a key gene, according to a study led by Mount Sinai researchers and published online today in the journal Cell Reports.

9 Oct 2015

Scientists map EGFRvIII mutant that causes brain cancer

A team of Ludwig Cancer Research scientists has mapped out how a mutant version of the epidermal growth factor receptor (EGFR) known as EGFRvIII specifically drives critical processes that alter the reading of the genome to fuel the growth of the brain cancer glioblastoma multiforme (GBM) and--most important--how each process is linked to the other.

9 Oct 2015

Gene therapy prevents neuronal death, disease effects in experimental model of PD

An estimated seven to ten million people worldwide are living with Parkinson's disease (PD), which is an incurable and progressive disease of the nervous system affecting movement and cognitive function. More than half of PD patients develop progressive disease showing signs of dementia similar to Alzheimer's disease.

9 Oct 2015

Father’s life experiences can affect health, development of both children and grandchildren

If you have diabetes, or cancer or even heart problems, maybe you should blame it on your dad's behaviour or environment. Or even your grandfather's.

9 Oct 2015

Researchers reveal new subtypes of invasive lobular carcinoma

Researchers from the UNC Lineberger Comprehensive Cancer Center and other academic centers have revealed new subtypes of invasive lobular carcinoma, the second most commonly diagnosed invasive breast cancer type. The findings could lead to personalized treatment approaches for the disease.

9 Oct 2015

FDA grants accelerated approval for Keytruda to treat patients with advanced NSCLC

The U.S. Food and Drug Administration today granted accelerated approval for Keytruda (pembrolizumab) to treat patients with advanced (metastatic) non-small cell lung cancer (NSCLC) whose disease has progressed after other treatments and with tumors that express a protein called PD-L1. Keytruda is approved for use with a companion diagnostic, the PD-L1 IHC 22C3 pharmDx test, the first test designed to detect PD-L1 expression in non-small cell lung tumors.

9 Oct 2015

Ambry Genetics presents groundbreaking TP53 gene data at ASHG; TP53 linked to breast cancer

Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, has announced new data affirming the effectiveness of multi-gene panel testing (MGPT) in identifying TP53 gene mutations in people who might otherwise not have been tested. The findings, presented as a poster at the American Society of Human Genetics (ASHG) 2015 Annual Meeting in Baltimore, includes data collected from more than 25,000 individuals having TP53 testing, of which 187 were positive. The tested cohort is the largest to date from a single testing laboratory.

9 Oct 2015

Celtaxsys commences acebilustat phase 2 trial in patients with cystic fibrosis in US

Celtaxsys, a clinical stage drug development company focused on advancing care for patients suffering from orphan inflammatory diseases, announced today the commencement of the US arm of an international phase 2 clinical trial for its flagship compound, acebilustat, in patients with cystic fibrosis (CF).

8 Oct 2015

Penn study forms basis for new treatment approaches for Sezary syndrome

Sezary syndrome (SS), an aggressive leukemia of mature T cells, is more complicated at a molecular level than ever suspected, according to investigators from the Perelman School of Medicine at the University of Pennsylvania.

8 Oct 2015

UT Southwestern investigators develop new strategy to classify cancers caused by KRAS mutations

UT Southwestern Medical Center researchers have developed a classification for cancers caused by KRAS, the most frequently mutated gene in cancer, that could eventually help oncologists choose more effective, customized cancer therapies.

8 Oct 2015

Scientists identify culprit genes behind the formation and progression of breast tumours

A team from the SingHealth Duke-NUS Academic Medical Centre, comprising scientists and clinicians from the National Cancer Centre Singapore, Singapore General Hospital and Duke-NUS Graduate Medical School, has uncovered the genetic landscape of a distinct breast tumour group called fibroepithelial tumours.

8 Oct 2015

SMC5/6 protein complex plays vital role in cancer suppression and premature ageing

A study conducted by the Spanish National Cancer Research Centre´s Genomic Instability Group, led by Óscar Fernández-Capetillo, describes for the first time in mammals, the role played by the SMC5/6 protein complex in cancer suppression and premature ageing. Mutations in these complexes, which were sensitive to chemotherapeutic agents, had been previously described in yeast cells, but their exact relationship with cancer or other diseases in mammals was unknown.

8 Oct 2015

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

Claritas Genomics, Inc., announced the launch of its Claritas Clinical Exome, at the Annual Meeting of the American Society of Human Genetics running 10/6 – 10/10 in Baltimore, MD. This novel diagnostic test is the first to exploit the strengths of multiple DNA sequencing platforms simultaneously to deliver confirmed results for a patient’s clinical whole exome within 4 weeks, compared to the industry standard of 12 weeks or more. Patients with rare disease typically seek a diagnosis for 8-12 years, receiving 3-5 separate tests at a high cost.

7 Oct 2015

2-year advanced melanoma survival benefit with dabrafenib, trametinib combination

Updated results from the COMBI-v trial show significantly improved overall and progression-free survival with first-line dabrafenib plus trametinib compared with vemurafenib in patients with advanced melanoma.

7 Oct 2015

Brain metastases evolve ‘clinically actionable’ mutations

Brain metastatic disease shows branched evolution from the primary tumour, suggest preliminary findings from the largest massively parallel sequencing study of paired samples performed so far.

7 Oct 2015

Penn Medicine announces $375,000 in new grants to support BRCA-focused research projects

Penn Medicine's Basser Center for BRCA announced $375,000 in new grant funding to support BRCA-focused research projects across the nation. The grants are aimed at advancing the care of patients living with BRCA1 and BRCA2 mutations.

7 Oct 2015

New diagnostic technology based on computer algorithms can quickly identify source of cancer

In by far the majority of cancer cases, the doctor can quickly identify the source of the disease, for example cancer of the liver, lungs, etc. However, in about one in 20 cases, the doctor can confirm that the patient has cancer—but cannot find the source. These patients then face the prospect of a long wait with numerous diagnostic tests and attempts to locate the origin of the cancer before starting any treatment.

7 Oct 2015

New studies suggest ways to improve cancer care by inhibiting oncogenes, boosting tumor-suppressor activity

Two new studies by cancer scientists at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC - James) suggest new approaches for treating cancer by inhibiting overactive cancer-promoting genes and by enhancing the activity of sluggish tumor-suppressor genes.

7 Oct 2015

Quest Diagnostics provides PD-L1 IHC 22C3 PharmDx test service for NSCLC patients

Quest Diagnostics, the world’s leading provider of diagnostic information services, today announced that it will provide clinical laboratory testing using the PD-L1 IHC 22C3 PharmDx immunohistochemistry companion diagnostic.

From Quest Diagnostics 7 Oct 2015

Mutation News and Research

Role for endogenous retrovirus proposed in ALS pathogenesis

Scientists engineer stem cells to better understand mechanisms behind leukemia

Scientists map EGFRvIII mutant that causes brain cancer

Gene therapy prevents neuronal death, disease effects in experimental model of PD

Father’s life experiences can affect health, development of both children and grandchildren

Researchers reveal new subtypes of invasive lobular carcinoma

FDA grants accelerated approval for Keytruda to treat patients with advanced NSCLC

Ambry Genetics presents groundbreaking TP53 gene data at ASHG; TP53 linked to breast cancer

Celtaxsys commences acebilustat phase 2 trial in patients with cystic fibrosis in US

Penn study forms basis for new treatment approaches for Sezary syndrome

UT Southwestern investigators develop new strategy to classify cancers caused by KRAS mutations

Scientists identify culprit genes behind the formation and progression of breast tumours

SMC5/6 protein complex plays vital role in cancer suppression and premature ageing

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

2-year advanced melanoma survival benefit with dabrafenib, trametinib combination

Brain metastases evolve ‘clinically actionable’ mutations

Penn Medicine announces $375,000 in new grants to support BRCA-focused research projects

New diagnostic technology based on computer algorithms can quickly identify source of cancer

New studies suggest ways to improve cancer care by inhibiting oncogenes, boosting tumor-suppressor activity

Quest Diagnostics provides PD-L1 IHC 22C3 PharmDx test service for NSCLC patients

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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