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Researchers develop new integrated approach to pinpoint genetic "drivers" of cancer

UNC Lineberger Comprehensive Cancer Center researchers have developed a new integrated approach to pinpoint the genetic "drivers" of cancer, uncovering eight genes that could be viable for targeted breast cancer therapy.

25 Aug 2014

Study sheds light on direct causal relationship between smoking and mortality

It is a fact that smoking is harmful and associated with deadly diseases such as cancer and cardiovascular disease.

25 Aug 2014

Finding suggests that retina acts as type of window to the brain

Researchers at the Gladstone Institutes and University of California, San Francisco have shown that a loss of cells in the retina is one of the earliest signs of frontotemporal dementia (FTD) in people with a genetic risk for the disorder-even before any changes appear in their behavior.

25 Aug 2014

Study shows new role for protein APC in suppressing colorectal cancer

A study recently published in the journal Carcinogenesis by researchers at the University of Kansas shows a new role for the protein adenomatous polyposis coli (APC) in suppressing colorectal cancer - the second-leading cause of cancer-related deaths in the U.S.

22 Aug 2014

DNA testing for congenital cataracts can accurately diagnose diseases linked to childhood blindness

Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published online today in Ophthalmology, the journal of the American Academy of Ophthalmology.

22 Aug 2014

Erlotinib feasible in KRAS wild-type lung adenocarcinoma

Erlotinib is a valid treatment option for patients with KRAS wild-type lung adenocarcinoma refractory to chemotherapy, study data show.

21 Aug 2014

Research offers hope to patient suffering from Duchenne muscular dystrophy

Research at Stockholm's KTH Royal Institute of Technology offers hope to those who suffer from Duchenne muscular dystrophy, an incurable, debilitating disease that cuts young lives short.

21 Aug 2014

Researchers restore missing repair protein in skeletal muscle of patients with muscular dystrophy

Advances in the treatment of muscular dystrophy: For the first time, a research team has succeeded in restoring a missing repair protein in skeletal muscle of patients with muscular dystrophy.

21 Aug 2014

New gene therapy protects mice from life-threatening heart condition

A new gene therapy developed by researchers at the University of Missouri School of Medicine has been shown to protect mice from a life-threatening heart condition caused by muscular dystrophy.

21 Aug 2014

Newborn screening for SCID holds promise that affected children can lead healthy lives

Using population-based screening outcomes of approximately 3 million infants, a team of scientists across 14 states, including four researchers at the University of Massachusetts Medical School, have shown that newborn screening for severe combined immunodeficiency (SCID) can be successfully implemented across public health newborn screening programs.

21 Aug 2014

Deep sequencing technique opens up new possibilities for finding genetic causes for brain disorder

Not every cell in the body is the same genetically, and disease-causing mutations don't necessarily affect every cell—making these mutations easy to miss even with next-generation genomic sequencing.

21 Aug 2014

Researchers identify mutated forms of gene that encodes unregulated enzyme driving CML

Researchers at Huntsman Cancer Institute (HCI) at the University of Utah have identified and characterized mutated forms of the gene that encodes BCR-ABL, the unregulated enzyme driving the blood cancer chronic myeloid leukemia (CML).

21 Aug 2014

EGFR biomarkers predict NSCLC response to vandetanib

Biomarker analyses of tumour samples from the ZODIAC study indicate that epidermal growth factor receptor gene copy number and mutation status may help identify the non-small-cell lung cancer patients most likely to benefit from treatment with vandetanib plus docetaxel.

20 Aug 2014

Early intervention hope for childhood achromatopsia

Researchers have found that children with achromatopsia have milder foveal pathology than their older counterparts, highlighting a potential opportunity for early intervention with gene therapy.

20 Aug 2014

Analysis of Candida glabrata fungus mutations reveals new genes that confer anti-fungal tolerance

A group of researchers at the Max F. Perutz Laboratories has created one of the three world's largest gene libraries for the Candida glabrata yeast, which is harmful to humans.

20 Aug 2014

Study examines national impact of newborn screening test for SCID

Severe combined immunodeficiency (SCID), a potentially life-threatening, but treatable, disorder affecting infants, is twice as common as previously believed, according to a new study that is the first to examine the national impact of this newborn screening test.

20 Aug 2014

Newborn screening indicates that incidence of SCID is higher than previously believed

Newborn screening performed in numerous states indicates that the incidence of the potentially life-threatening disorder, severe combined immunodeficiency, is higher than previously believed, at 1 in 58,000 births, although there is a high rate of survival, according to a study in the August 20 issue of JAMA.

20 Aug 2014

New web-based program helps to determine deadly form of brain cancer

A new web-based program developed by University of Kentucky Markey Cancer Center researchers will provide a simple, free way for healthcare providers to determine which brain tumor cases require testing for a genetic mutation.

20 Aug 2014

Lung Cancer Alliance praises NCI's new ALCHEMIST trial

Lung Cancer Alliance (LCA) President & CEO, Laurie Fenton Ambrose praised the National Cancer Institute's (NCI) new trial, launched today, that will focus on the prevention of recurrence in two specific types of lung cancers when they are caught at early stage and surgically removed.

19 Aug 2014

BRCA2 mutations herald poor prognosis in screen-detected prostate cancer

Among men with prostate cancer detected on screening, survival among those with a mutation in the BRCA2 gene is much poorer than in those without such a mutation, researchers report.

18 Aug 2014

Mutation News and Research

Researchers develop new integrated approach to pinpoint genetic "drivers" of cancer

Study sheds light on direct causal relationship between smoking and mortality

Finding suggests that retina acts as type of window to the brain

Study shows new role for protein APC in suppressing colorectal cancer

DNA testing for congenital cataracts can accurately diagnose diseases linked to childhood blindness

Erlotinib feasible in KRAS wild-type lung adenocarcinoma

Research offers hope to patient suffering from Duchenne muscular dystrophy

Researchers restore missing repair protein in skeletal muscle of patients with muscular dystrophy

New gene therapy protects mice from life-threatening heart condition

Newborn screening for SCID holds promise that affected children can lead healthy lives

Deep sequencing technique opens up new possibilities for finding genetic causes for brain disorder

Researchers identify mutated forms of gene that encodes unregulated enzyme driving CML

EGFR biomarkers predict NSCLC response to vandetanib

Early intervention hope for childhood achromatopsia

Analysis of Candida glabrata fungus mutations reveals new genes that confer anti-fungal tolerance

Study examines national impact of newborn screening test for SCID

Newborn screening indicates that incidence of SCID is higher than previously believed

New web-based program helps to determine deadly form of brain cancer

Lung Cancer Alliance praises NCI's new ALCHEMIST trial

BRCA2 mutations herald poor prognosis in screen-detected prostate cancer

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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