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Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

A group of researchers from Pakistan, Europe and Singapore have identified and characterised a previously undiscovered rare deafness-dystonia syndrome in a family living in a remote region of Pakistan.

28 Feb 2017

New molecule may inhibit growth of aggressive pediatric brain tumor

Northwestern Medicine scientists have found a molecule that stops the growth of an aggressive pediatric brain tumor. The tumor is always fatal and primarily strikes children under 10 years old.

27 Feb 2017

Scientists gain new insight into early brain pathology of schizophrenia using adult skin cells

The skin cells of four adults with schizophrenia have provided an unprecedented "window" into how the disease began while they were still in the womb, according to a recent paper in Schizophrenia Research.

27 Feb 2017

Scientists find link between p53 gene in African American women and breast cancer risk

Scientists at The Wistar Institute in collaboration with Roswell Park Cancer Institute found a significant association between a rare genetic variant of the p53 gene present in African American women and their risk of developing breast cancer in premenopausal age. The study was published online by the journal NPJ Breast Cancer.

27 Feb 2017

Study finding suggests new ways in which genetic mutations may cause brain disorders

Many kids say they love their mom and dad equally, but there are times when even the best prefers one parent over the other. The same can be said for how the body's cells treat our DNA instructions. It has long been thought that each copy - one inherited from mom and one from dad - is treated the same. A new study from scientists at the University of Utah School of Medicine shows that it is not uncommon for cells in the brain to preferentially activate one copy over the other.

25 Feb 2017

Scientists unravel mechanism of rare, early phenomenon that can affect human development

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism.

24 Feb 2017

Newly discovered gene variants increase risk of anxiety disorders

Several newly discovered variants of a gene increase the risk of developing anxiety disorders. A research team aims to derive new therapies from this finding which are better tailored to the individual patients.

24 Feb 2017

Study shows how old blood stem cells can be rejuvenated

When we are young, our blood stem cells produce an even and well-balanced number of red and white blood cells according to need. As we age, however, the capacity of the blood stem cells to produce the number of blood cells we need declines.

24 Feb 2017

New research offers insights into how differences arise in common illnesses

As much as we try to avoid it, we are constantly sharing germs with those around us. But even when two people have the same infection, the resulting illnesses can be dramatically different--mild for one person, severe or even life-threatening for the other.

24 Feb 2017

Study uncovers how effects of HSP90 protein can alter course of genetic diseases

Proteins do most of the work inside the human body, supporting the structure, function, regulation, and repair of organs, tissues and cells.

24 Feb 2017

Scientists propose potential new treatment for Gaucher disease

Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.

23 Feb 2017

Research advances understanding of neuroimmune mechanisms in ASD

In the Biological Psychiatry special issue "Neuroimmune Mechanisms in Autism Spectrum Disorder", guest editor Professor Kimberley McAllister of the University of California, Davis, presents five reviews and three original research articles highlighting advances that are transforming the field of autism spectrum disorder (ASD) research.

23 Feb 2017

Study shows how variations in receptor genes may lead to obsessive-compulsive disorder traits

A new Northwestern Medicine study found evidence suggesting how neural dysfunction in a certain region of the brain can lead to obsessive and repetitive behaviors much like obsessive-compulsive disorder.

22 Feb 2017

Monash-Cardiff researchers gain new understanding of how HIV evades immune system

Monash University and Cardiff University researchers have come a step further in understanding how the human immunodeficiency virus (HIV) evades the immune system.

22 Feb 2017

Discovery of early biomarkers paves way for new insight into Huntington's disease

Early warning signs of Huntington's disease have been uncovered in a sheep carrying the human HD mutation, leading the way for new insight into this devastating illness, a new study in Scientific Reports has found.

22 Feb 2017

Researchers identify novel gene critical to development of lung and pancreatic cancer

Researchers at the Center for Applied Medical Research of the University of Navarra have identified a critical gene, FOSL1, in the development of lung and pancreatic cancer.

22 Feb 2017

Research on repair of broken hearts hints at possibility of new designer cardiovascular therapies

Unlike the self-repair abilities of our skin, bone and other tissues, which can readily heal and rebuild themselves after injury, evolution has left the mammalian heart with relatively little regenerative capacity.

22 Feb 2017

Research may show new ways to repress inflammation at outset

Researchers at the University of Tübingen, working with colleagues in other parts of Germany and in the United States, have identified an enzyme as a kind of biological gauge regulating inflammation in the human body.

21 Feb 2017

Scientists identify novel mutations in bacteria that promote evolution of antibiotic resistance

Scientists from the Broad Institute of MIT and Harvard in Cambridge, Massachusetts, have identified novel mutations in bacteria that promote the evolution of high-level antibiotic resistance.

21 Feb 2017

Pitt researchers uncover genetic marker that may predict drug response in many cancer types

Researchers at the University of Pittsburgh School of Medicine have uncovered a novel genetic mechanism of thyroid cancer, as well as a marker that may predict response to a particular class of drugs, not just in patients with thyroid cancer, but in those with many other types of cancer as well.

21 Feb 2017

Mutation News and Research

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

New molecule may inhibit growth of aggressive pediatric brain tumor

Scientists gain new insight into early brain pathology of schizophrenia using adult skin cells

Scientists find link between p53 gene in African American women and breast cancer risk

Study finding suggests new ways in which genetic mutations may cause brain disorders

Scientists unravel mechanism of rare, early phenomenon that can affect human development

Newly discovered gene variants increase risk of anxiety disorders

Study shows how old blood stem cells can be rejuvenated

New research offers insights into how differences arise in common illnesses

Study uncovers how effects of HSP90 protein can alter course of genetic diseases

Scientists propose potential new treatment for Gaucher disease

Research advances understanding of neuroimmune mechanisms in ASD

Study shows how variations in receptor genes may lead to obsessive-compulsive disorder traits

Monash-Cardiff researchers gain new understanding of how HIV evades immune system

Discovery of early biomarkers paves way for new insight into Huntington's disease

Researchers identify novel gene critical to development of lung and pancreatic cancer

Research on repair of broken hearts hints at possibility of new designer cardiovascular therapies

Research may show new ways to repress inflammation at outset

Scientists identify novel mutations in bacteria that promote evolution of antibiotic resistance

Pitt researchers uncover genetic marker that may predict drug response in many cancer types

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