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IDIBELL and IDIPAZ scientists identify epigenetic alterations in CVID

Researchers of the Chromatin and Disease Group from the Bellvitge Biomedical Research Institute and La Paz Hospital have identified epigenetic alterations in Common Variable Immunodeficiency (CVID), the most common primary immunodeficiency, using as a starting point genetically identical monozygotic twins discordant for the disease.

18 Jun 2015

NIH-funded study identifies DOCK2 deficiency

Researchers funded by the National Institutes of Health have identified a new immune disorder--DOCK2 deficiency--named after the mutated gene responsible for the disease.

18 Jun 2015

Melanoma patients with high levels of H2A.Z.2 protein less likely to survive

Melanoma patients with high levels of a protein that controls the expression of pro-growth genes are less likely to survive, according to a study led by researchers at Icahn School of Medicine at Mount Sinai and published online in the journal Molecular Cell.

18 Jun 2015

Simple test could help identify genetically inherited risk for prostate cancer

Men with an elevated, genetically inherited risk for prostate cancer could be routinely identified with a simple blood or urine test, scientists at UC San Francisco and Kaiser Permanente Northern California have concluded, potentially paving the way to better or earlier diagnosis.

18 Jun 2015

Rare form of autoimmune syndrome may be tied to mutations in AIRE gene

A hereditary autoimmune disease that was thought to be exceedingly rare may have a less severe form that affects one in 1,000 people or even more, according to new research conducted at the Weizmann Institute of Science, in Israel, and the University of Bergen, in Norway.

18 Jun 2015

Australian researchers discover gene involved in muscular dystrophy

Australian researchers have made a critical discovery about a gene involved in muscular dystrophy that could lead to future therapies for the currently untreatable disease.

18 Jun 2015

Researchers reveal that Helicobacter pylori infection can lead to gastric cancer

Around half of the global population is chronically infected with the stomach bacterium Helicobacter pylori, almost 1 percent of whom go on to develop gastric adenocarcinoma, one of the deadliest forms of cancer. Usually it takes many decades for the cancer to develop, making it difficult to pinpoint exactly how it is linked to an infection.

17 Jun 2015

Mutations in ZnT2 protein reduce amounts of zinc levels in mother's milk

Zinc plays an important role in a woman's ability to successfully breast-feed her child, according to health researchers.

16 Jun 2015

DAPK1 protein may be a promising new therapeutic target for most aggressive breast cancers

Although traditionally understood to induce death in cancer cells, researchers at The University of Texas MD Anderson Cancer Center have discovered that the DAPK1 protein is actually essential for growth in breast and other cancers with mutations in the TP53 gene. This discovery indicates DAPK1 may be a promising new therapeutic target for many of the most aggressive cancers.

16 Jun 2015

VENTANA ALK (D5F3) CDx Assay receives FDA approval

Ventana Medical Systems, Inc., a member of the Roche Group, today announced approval of the VENTANA ALK (D5F3) CDx Assay by the US Food and Drug Administration as a companion diagnostic to aid in the identification of patients for Pfizer's FDA approved targeted therapy, XALKORI (crizotinib).

15 Jun 2015

Molecular classifications of low-grade gliomas proposed

Two research teams have independently proposed molecular classification systems for grade II and III glioma based on three tumour markers, with each category displaying distinct clinical features and outcomes.

12 Jun 2015

Scientists identify gene mutation linked to anaplastic oligodendroglioma

Scientists have identified a gene mutation linked to the development of an aggressive form of brain cancer. Researchers found that errors in a gene known as TCF12 - which plays a key role in the formation of the embryonic brain are associated with more aggressive forms of a disease called anaplastic oligodendroglioma.

12 Jun 2015

Researchers working on new system that can detect patient's antibiotic resistance in 30 minutes

A new device being developed by medical experts will transform the time it takes to detect antibiotic resistance in patients from several days to just half an hour.

12 Jun 2015

NCCN ORP receives $2-million grant from Boehringer Ingelheim to facilitate studies of afatinib in NSCLC

The National Comprehensive Cancer Network Oncology Research Program (ORP) has been awarded a $2-million grant from Boehringer Ingelheim Pharmaceuticals, Inc. to develop a program to evaluate scientifically targeted combination approaches with afatinib in the treatment of non-small cell lung cancer (NSCLC).

12 Jun 2015

Certain ARID1a mutations sensitize some tumors to PARP inhibitor drugs

Mutations in ARID1a, which are common in many cancer types, disrupt DNA damage repair in cancer cells, allowing the cancer to progress. This gene may also be an Achilles' heel when treating certain tumors, according to a team of researchers at The University of Texas MD Anderson Cancer Center.

12 Jun 2015

USC Stem Cell scientist named 2015 Pew-Stewart scholar for cancer research

USC Stem Cell researcher Min Yu, MD, PhD, is one of five early-career scientists to be named a 2015 Pew-Stewart scholar for cancer research. As part of this honor, she will receive $240,000 over four years to advance the understanding of metastatic breast cancer.

11 Jun 2015

New gene mutations in ADAMTS family may contribute to outcomes in ovarian cancer

There is the Addams Family. And then there is the ADAMTS family. While one is mindless entertainment, the latter may prove to be a new genetic avenue for designing ovarian cancer treatment.

11 Jun 2015

Researchers identify two critical mutations that allow MERS virus to transmit from bats to humans

Researchers have identified two critical mutations allowing the deadly Middle East Respiratory Syndrome (MERS) virus to transmit from bats to humans. The findings were published in the most recent edition of the Journal of Virology.

11 Jun 2015

NeoGenomics announces launch of new NeoLAB assays to diagnose hematologic diseases

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today the launch of its first twelve tests in a new line of "liquid biopsy" or NeoLAB assays using next generation sequencing and other advanced molecular technologies.

11 Jun 2015

PGDx launches LungSelect product to identify genetic alterations in the plasma of NSCLC patients

Personal Genome Diagnostics, Inc., a provider of advanced cancer genome analysis and testing services, today announced the launch of its LungSelect product that identifies the most common, clinically actionable genetic alterations in the plasma of non-small cell lung cancer (NSCLC) patients.

11 Jun 2015

Mutation News and Research

IDIBELL and IDIPAZ scientists identify epigenetic alterations in CVID

NIH-funded study identifies DOCK2 deficiency

Melanoma patients with high levels of H2A.Z.2 protein less likely to survive

Simple test could help identify genetically inherited risk for prostate cancer

Rare form of autoimmune syndrome may be tied to mutations in AIRE gene

Australian researchers discover gene involved in muscular dystrophy

Researchers reveal that Helicobacter pylori infection can lead to gastric cancer

Mutations in ZnT2 protein reduce amounts of zinc levels in mother's milk

DAPK1 protein may be a promising new therapeutic target for most aggressive breast cancers

VENTANA ALK (D5F3) CDx Assay receives FDA approval

Molecular classifications of low-grade gliomas proposed

Scientists identify gene mutation linked to anaplastic oligodendroglioma

Researchers working on new system that can detect patient's antibiotic resistance in 30 minutes

NCCN ORP receives $2-million grant from Boehringer Ingelheim to facilitate studies of afatinib in NSCLC

Certain ARID1a mutations sensitize some tumors to PARP inhibitor drugs

USC Stem Cell scientist named 2015 Pew-Stewart scholar for cancer research

New gene mutations in ADAMTS family may contribute to outcomes in ovarian cancer

Researchers identify two critical mutations that allow MERS virus to transmit from bats to humans

NeoGenomics announces launch of new NeoLAB assays to diagnose hematologic diseases

PGDx launches LungSelect product to identify genetic alterations in the plasma of NSCLC patients

Industry Focus eBook - Neurology/Neuroscience - 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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