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Claritas, NextCODE Health partner to bring global leadership in pediatric medicine, sequence analysis

To rapidly expand the use and power of genomic sequencing for diagnosing and treating rare diseases, Claritas Genomics and NextCODE Health today announced a strategic partnership bringing together global leadership in pediatric medicine and sequence analysis. Claritas Genomics, affiliated with Boston Children's Hospital, is a CLIA-certified clinical laboratory serving the DNA-based diagnostic testing needs of children's hospitals that admit hundreds of thousands of patients with genetic disorders every year.

11 Dec 2014

Researchers pinpoint rare gene mutations that increase risk of heart attack early in life

A team of investigators from the Broad Institute, Massachusetts General Hospital and other leading biomedical research institutions has pinpointed rare mutations in a gene called APOA5 that increase a person's risk of having a heart attack early in life. These mutations disable the APOA5 gene and also raise the levels in the blood of triglyceride-rich lipoproteins, a type of fat.

11 Dec 2014

New technique allows rapid, large-scale studies of gene function

Using a gene-editing system originally developed to delete specific genes, MIT researchers have now shown that they can reliably turn on any gene of their choosing in living cells.

11 Dec 2014

Johns Hopkins study shows gene expression in autism brains

While many different combinations of genetic traits can cause autism, brains affected by autism share a pattern of ramped-up immune responses, an analysis of data from autopsied human brains reveals. The study, a collaborative effort between Johns Hopkins and the University of Alabama at Birmingham, included data from 72 autism and control brains.

11 Dec 2014

Enzymatic activity essential for vision may provide target for drug transport

Researchers at Case Western Reserve University School of Medicine have uncovered the mechanism that enables the enzyme Lecithin: retinol acyltransferase (LRAT) to store vitamin A--a process that is indispensable for vision.

10 Dec 2014

Myriad Genetics highlights three new studies at SABCS 2014

Myriad Genetics, Inc. today announced results from a new study that demonstrated the ability of the myRisk Hereditary Cancer test to detect 105 percent more mutations in cancer causing genes than conventional BRCA testing alone. The Company also presented two key studies in triple negative breast cancer (TNBC) that show the myChoice HRD test accurately predicted response to platinum-based therapy in patients with early-stage TNBC and that the BRACAnalysis molecular diagnostic test significantly predicted response to platinum-based drugs in patients with metastatic TNBC.

10 Dec 2014

Heat-shock protein 90 enables ER+ breast cancers to develop resistance to hormonal therapy

Long known for its ability to help organisms successfully adapt to environmentally stressful conditions, the highly conserved molecular chaperone heat-shock protein 90 (HSP90) also enables estrogen receptor-positive (ER+) breast cancers to develop resistance to hormonal therapy.

10 Dec 2014

Chemical chaperone: A new therapeutic option for epilepsy

Researchers found out that the conformational defect in a specific protein causes Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) which is a form of familial epilepsy. They showed that treatment with chemical corrector called "chemical chaperone" ameliorates increased seizure susceptibility in a mouse model of human epilepsy by correcting the conformational defect.

10 Dec 2014

University of Illinois study could provide insight into protein-misfolding diseases

When a large protein unfolds in transit through a cell, it slows down and can get stuck in traffic. Using a specialized microscope -- a sort of cellular traffic camera -- University of Illinois chemists now can watch the way the unfolded protein diffuses.

10 Dec 2014

PD-1, PD-L1 differentially expressed in NSCLC

The expression of the immune checkpoint protein programmed death-1 receptor and its ligand varies according to tumour and patient characteristics in oncogene-addicted non-small-cell lung cancer, research indicates.

9 Dec 2014

Ponatinib ‘superior’ to sequential second-generation TKI treatment in CML

Patients with chronic myelogenous leukaemia resistant or intolerant to at least one second-generation tyrosine kinase inhibitor have a higher probability of achieving a response to the third-generation TKI ponatinib than to a further second-generation TKI, research indicates.

9 Dec 2014

Researchers freeze biological structures to illustrate DNA double-strand break process

Scientists from the Spanish National Cancer Research Centre, led by Guillermo Montoya, have developed a method for producing biological crystals that has allowed scientists to observe --for the first time-- DNA double chain breaks. They have also developed a computer simulation that makes this process, which lasts in the order of millionths of a second, visible to the human eye.

9 Dec 2014

Study finds that disarray in methylation helps tumors adapt to changing circumstances

The genetic tumult within cancerous tumors is more than matched by the disorder in one of the mechanisms for switching cells' genes on and off, scientists at Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard report in a new study.

9 Dec 2014

CTI BioPharma presents data from Phase 3 trial of pacritinib in AML patients at ASH 2014

CTI BioPharma Corp. today announced data showing treatment with pacritinib, an investigational oral multikinase inhibitor in Phase 3 clinical development, preferentially killed acute myeloid leukemia (AML) cells with FLT3 mutations, overcame stromal protection and suppressed leukemic outgrowth from stroma adherent AML cells in both medium-term (7-14 days) and long-term (5-6 weeks) assays.

9 Dec 2014

BAZ2A protein directly influences the aggressiveness of prostate cancer

A protein that influences the epigenetic characteristics of tumor cells is directly linked to the grade of malignancy of prostate cancer. This key discovery has been made by a team of scientists from the German Cancer Research Center, the University of Zurich, Hamburg-Eppendorf University Hospital, Heidelberg University, and other institutes in a study of 7,700 samples of tumor tissue.

9 Dec 2014

Phase 2 RESONATE-17 study: IMBRUVICA (ibrutinib) improves survival in CLL patients with del 17p

Results from the Phase 2 RESONATE-17 (PCYC-1117) study show IMBRUVICA (ibrutinib) was associated with an 82.6 percent investigator-assessed overall response rate (ORR; the primary endpoint) and a 79 percent progression-free survival (PFS) rate at 12 months in people living with relapsed/refractory chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) who have a genetic mutation known as deletion 17p (del 17p).

9 Dec 2014

Screening system spots cancerous changes invisible to sequencing

A technique that can identify causes of cancer invisible to genetic sequencing has uncovered large sets of previously unknown pancreatic cancer genes. It is hoped that this study will boost research into a disease that is still poorly understood and for which five-year survival rates have stood at around 5 per cent for the past four decades.

8 Dec 2014

Findings open new avenues for research to predict risk of therapy-related AML

For a small percentage of cancer patients, treatment aimed at curing the disease leads to a form of leukemia with a poor prognosis. Conventional thinking goes that chemotherapy and radiation therapy induce a barrage of damaging genetic mutations that kill cancer cells yet inadvertently spur the development of acute myeloid leukemia (AML), a blood cancer.

8 Dec 2014

Oral targeted drug shows encouraging activity in patients with relapsed or resistant AML

An oral targeted drug has shown encouraging activity and tolerable side effects in patients with treatment-resistant or relapsed acute myelogenous leukemia (AML) - a poor-prognosis group with few options - report investigators from Dana-Farber Cancer Institute and M.D. Anderson Cancer Center.

8 Dec 2014

Baylor-led researchers identify gene linked to familial glioma

An international consortium of researchers led by Baylor College of Medicine has identified for the first time a gene associated with familial glioma (brain tumors that appear in two or more members of the same family) providing new support that certain people may be genetically predisposed to the disease.

8 Dec 2014

Mutation News and Research

Claritas, NextCODE Health partner to bring global leadership in pediatric medicine, sequence analysis

Researchers pinpoint rare gene mutations that increase risk of heart attack early in life

New technique allows rapid, large-scale studies of gene function

Johns Hopkins study shows gene expression in autism brains

Enzymatic activity essential for vision may provide target for drug transport

Myriad Genetics highlights three new studies at SABCS 2014

Heat-shock protein 90 enables ER+ breast cancers to develop resistance to hormonal therapy

Chemical chaperone: A new therapeutic option for epilepsy

University of Illinois study could provide insight into protein-misfolding diseases

PD-1, PD-L1 differentially expressed in NSCLC

Ponatinib ‘superior’ to sequential second-generation TKI treatment in CML

Researchers freeze biological structures to illustrate DNA double-strand break process

Study finds that disarray in methylation helps tumors adapt to changing circumstances

CTI BioPharma presents data from Phase 3 trial of pacritinib in AML patients at ASH 2014

BAZ2A protein directly influences the aggressiveness of prostate cancer

Phase 2 RESONATE-17 study: IMBRUVICA (ibrutinib) improves survival in CLL patients with del 17p

Screening system spots cancerous changes invisible to sequencing

Findings open new avenues for research to predict risk of therapy-related AML

Oral targeted drug shows encouraging activity in patients with relapsed or resistant AML

Baylor-led researchers identify gene linked to familial glioma

Industry Focus eBook - Forensics & toxicology (2nd edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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