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MGH investigators identify molecule that plays key role in the breakdown of kidney filter

One of the most devastating side effects of diabetes is kidney failure, and one of the earliest signs of kidney damage is a disruption of the organ's filtering capacity. Diabetes patients who develop kidney failure must go on dialysis, seriously limiting their quality of life and placing them at significantly increased risk of death. The incidence of kidney disease is increasing with rising rates of obesity-associated type 2 diabetes, but very little progress has been made towards protecting the kidney's filter barrier during the past 50 years.

16 Nov 2013

Researchers identify gene responsible for Warburg Micro syndrome

A collaborative team of researchers led by researchers at the Medical College of Wisconsin and the University of Edinburgh has identified a gene responsible for Warburg Micro syndrome, a rare genetic disease characterized by eye, brain and endocrine abnormalities. Patients with Warburg Micro syndrome are severely physically and mentally challenged, unable to learn how to walk or speak and become blind and paralyzed from an early age.

15 Nov 2013

Researchers use new approach to parse roles of key mutated protein that causes familial AD

Researchers at the University of California, San Diego School of Medicine have used genetic engineering of human induced pluripotent stem cells to specifically and precisely parse the roles of a key mutated protein in causing familial Alzheimer's disease, discovering that simple loss-of-function does not contribute to the inherited form of the neurodegenerative disorder.

15 Nov 2013

Researchers create new statistical tools to find clues about cancer from raw data

Researchers at Rice University, Baylor College of Medicine (BCM) and the University of Texas at Austin are working together to create new statistical tools that can find clues about cancer that are hidden like needles in enormous haystacks of raw data.

15 Nov 2013

Medical researchers discover structure of potential drug target for rare genetic disease

Medical researchers at the University of Alberta have discovered the structure of a potential drug target for a rare genetic disease, paving the way for an alternative treatment for the condition.

15 Nov 2013

Taiwan scientists confirm world’s first case of wild avian influenza A H6N1 virus in human

Scientists from Taiwan report on the world’s first confirmed case of human infection with a wild avian influenza A H6N1 virus in The Lancet Respiratory Medicine.

14 Nov 2013

Acquired resistance to cancer therapies: an interview with Dr Rajendra Kumari, Chief Scientific Officer at PRECOS

Cancer can be treated by a number of different ways depending on the location, grade and stage of tumour. A patient's age, medical history and lifestyle will also be taken into consideration and a combination of treatments will also be adopted to provide maximum effect.

14 Nov 2013

Johns Hopkins students take the top honor for developing PrestoPatch system

A Johns Hopkins undergraduate biomedical engineering student team that devised a two-part system to improve the way life-saving shocks are delivered to hearts earned first-prize in the undergraduate division of a national Collegiate Inventors Competition. In the graduate-level competition, Isaac Kinde, a Johns Hopkins medical student, received third-place honors for developing a test to detect ovarian and endometrial cancers as part of a team at the Johns Hopkins Kimmel Cancer Center.

14 Nov 2013

Research findings call for a rethinking of cancer genetics

Johns Hopkins researchers report that the deletion of any single gene in yeast cells puts pressure on the organism’s genome to compensate, leading to a mutation in another gene. Their discovery, which is likely applicable to human genetics because of the way DNA is conserved across species, could have significant consequences for the way genetic analysis is done in cancer and other areas of research, they say.

14 Nov 2013

Researchers take a step forward in unravelling the causes of inherited intellectual disability

University of Adelaide researchers have taken a step forward in unravelling the causes of a commonly inherited intellectual disability, finding that a genetic mutation leads to a reduction in certain proteins in the brain.

14 Nov 2013

AMP 2013: EKF Molecular Diagnostics to launch four new PointMan DNA enrichment kits

EKF Diagnostics, the global diagnostics business, announces that EKF Molecular Diagnostics will launch four new PointMan DNA enrichment kits.

From EKF Diagnostics 13 Nov 2013

Professor receives NOK 75M grant to develop idea for next generation personalized cancer therapy

Extensive statistical analyses of the mutation distribution in several thousand cancerous tumours make it possible to find cures for types of cancer that cannot be treated today.

13 Nov 2013

Novel discovery of RUNX3 gene provides new insights on defence mechanism against lung cancer

Novel discovery relating to the function of RUNX3 gene provides new insights on human defence mechanism against early stages of lung cancer development

13 Nov 2013

Researchers shed light on how and when immune system forms

Researchers at Lund University have shed light on how and when the immune system is formed, raising hope of better understanding various diseases in children, such as leukaemia.

13 Nov 2013

Study provides new evidence underlining the significance of bitter taste perception

It's no coincidence that the expression "to leave a bitter taste in one's mouth" has a double meaning; people often have strong negative reactions to bitter substances, which, though found in healthful foods like vegetables, can also signify toxicity. For this reason, the ability to sense bitterness likely played an important role in human evolution.

12 Nov 2013

Australian scientists unravel mystery behind immune system memory

While the principle of immune memory has been known for decades, the exact molecular mechanisms underpinning it have remained a mystery. Australian scientists have now unraveled part of that mystery, identifying the role of a gene called STAT3, which acts as a kind of roundabout, directing chemical messenger molecules to various destinations.

12 Nov 2013

Gene mutations responsible for persistent AD in African American children

Two specific genetic variations in people of African descent are responsible for persistent atopic dermatitis (AD), an itchy, inflammatory form of the skin disorder eczema. A new report by researchers in the Perelman School of Medicine at the University of Pennsylvania found that loss-of-function mutations to Filaggrin-2 (FLG2), a gene that creates a protein responsible for retaining moisture and protecting the skin from environmental irritants, were associated with atopic dermatitis in African American children.

12 Nov 2013

Scientists use new technology to study whole genome to find the cause of genetic disease

For the first time, scientists have used new technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as "junk DNA".

11 Nov 2013

Researchers identify novel therapeutic approach for most frequent genetic cause of ALS

A team of scientists led by researchers from the University of California, San Diego School of Medicine and Ludwig Institute for Cancer Research have identified a novel therapeutic approach for the most frequent genetic cause of ALS, a disorder of the regions of the brain and spinal cord that control voluntary muscle movement, and frontal temporal degeneration, the second most frequent dementia.

10 Nov 2013

A*STAR scientists discover potential target to weed out progression of cancer

Scientists at A*STAR have discovered an enzyme, Wip1 phosphatase, as a potential target to weed out the progression of cancer. Although studies in the past have revealed that this enzyme plays a critical role in regulating the budding of tumours, scientists have for the first time unearthed a mechanism for its mode of action.

10 Nov 2013

Mutation News and Research

MGH investigators identify molecule that plays key role in the breakdown of kidney filter

Researchers identify gene responsible for Warburg Micro syndrome

Researchers use new approach to parse roles of key mutated protein that causes familial AD

Researchers create new statistical tools to find clues about cancer from raw data

Medical researchers discover structure of potential drug target for rare genetic disease

Taiwan scientists confirm world’s first case of wild avian influenza A H6N1 virus in human

Acquired resistance to cancer therapies: an interview with Dr Rajendra Kumari, Chief Scientific Officer at PRECOS

Johns Hopkins students take the top honor for developing PrestoPatch system

Research findings call for a rethinking of cancer genetics

Researchers take a step forward in unravelling the causes of inherited intellectual disability

AMP 2013: EKF Molecular Diagnostics to launch four new PointMan DNA enrichment kits

Professor receives NOK 75M grant to develop idea for next generation personalized cancer therapy

Novel discovery of RUNX3 gene provides new insights on defence mechanism against lung cancer

Researchers shed light on how and when immune system forms

Study provides new evidence underlining the significance of bitter taste perception

Australian scientists unravel mystery behind immune system memory

Gene mutations responsible for persistent AD in African American children

Scientists use new technology to study whole genome to find the cause of genetic disease

Researchers identify novel therapeutic approach for most frequent genetic cause of ALS

A*STAR scientists discover potential target to weed out progression of cancer

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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