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Consensus paper on atrial cardiomyopathies could be important step forward for research, treatment

The first consensus paper on atrial cardiomyopathies is set to be published simultaneously in EP-Europace, HeartRhythm, and the Journal of Arrhythmia. The key contents are launched today at CARDIOSTIM - EHRA EUROPACE 2016.

13 Jun 2016

New study may help unveil structure and behavior of neurotoxic oligomers in Alzheimer's disease

Much of the research on Alzheimer's disease has focused on the amyloid beta protein, which clumps together into sticky fibrils that form deposits in the brains of people with the disease.

13 Jun 2016

Scientists identify gene linked to severe glaucoma in children

Northwestern Medicine and University of Wisconsin-Madison scientists have identified a gene that causes severe glaucoma in children.

13 Jun 2016

Discovery on new form ETV6-related thrombocytopenia presented at EHA Annual Congress

We recently discovered a new form of an inherited deficiency of platelets, which is caused by mutations in the ETV6-gene.

13 Jun 2016

New research offers more insights into development of Kennedy's disease

Kennedy's disease leads to progressive muscle wastage. It is a condition that affects only men and it appears between 40 and 50 years of age. There is no specific treatment available.

13 Jun 2016

Defects in cerebrospinal fluid flow may contribute to scoliosis during adolescence

A new study in zebrafish suggests that irregular fluid flow through the spinal column brought on by gene mutations is linked to a type of scoliosis that can affect humans during adolescence.

13 Jun 2016

About 30% of iPSCs not safe for clinical use, report multi-institutional researchers

As the promise of using regenerative stem cell therapies draws closer, a consortium of biomedical scientists reports about 30 percent of induced pluripotent stem cells they analyzed from 10 research institutions were genetically unstable and not safe for clinical use.

10 Jun 2016

RNA editing enzyme ADAR1 may play role in regeneration of leukemia stem cells

Cancer stem cells are like zombies — even after a tumor is destroyed, they can keep coming back. These cells have an unlimited capacity to regenerate themselves, making more cancer stem cells and more tumors.

10 Jun 2016

Study captures interactions of HIV-infected immune cells in living animal

By watching brightly glowing HIV-infected immune cells move within mice, researchers at the Icahn School of Medicine at Mount Sinai have shown how infected immune cells latch onto an uninfected sister cell to directly transmit newly minted viral particles.

10 Jun 2016

New RNA aptamer can prevent pathogenic protein misfolding

Several diseases occur when mutations cause misfolding of proteins. These include "serpinopathies" which is a group of rare heritable diseases. They are caused by mutations of so-called "serpin" inhibitors of proteolytic enzymes involved in blood coagulation, tissue remodeling, and other important physiological functions.

10 Jun 2016

Scientists discover new ZBTB7A gene mutation that promotes growth of cancer cells

Biomarkers play an important role in modern cancer medicine. They are used as tools to diagnose cancers more precisely and to better predict the course of the disease.

10 Jun 2016

Researchers receive $2.4 million grant to study effects of parenting on behavior of adolescents with FXS

University of Kansas researchers have been awarded a five-year, $2.4 million grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development to study the effects of parenting on the development and behavior of adolescents with Fragile X syndrome, a single-gene disorder that is the most common cause of inherited developmental disability and the leading genetic cause of autism.

9 Jun 2016

Study provides insights into new pathways to generate universal vaccine against influenza viruses

Diverse antibodies induced in humans by vaccination with an avian influenza virus vaccine may offer broader, more durable protection against multiple strains of influenza than today's vaccines typically provide, according to a study led by Florian Krammer, PhD, Assistant Professor in the Department of Microbiology at the Icahn School of Medicine at Mount Sinai, and Patrick Wilson, PhD, Associate Professor in the Department of Medicine at the University of Chicago.

9 Jun 2016

New IVF-based technique can reduce risk of mothers passing on mitochondrial disease to infants

A new IVF-based technique is likely to lead to normal pregnancies and reduce the risk that babies born will have mitochondrial disease, according to researchers at the Wellcome Trust Centre for Mitochondrial Disease at Newcastle University.

9 Jun 2016

New technology can detect KRAS gene mutations, facilitate targeted therapies for lung and colorectal cancers

A new technology suitable for practical clinical testing can detect KRAS gene mutations in lung and colorectal cancers and could thereby facilitate targeted therapies, according to a new report in The Journal of Molecular Diagnostics.

8 Jun 2016

Researchers identify lymphatic endothelial lineage that shows potential for new anti-cancer treatment

Identifying the cell of origin is crucial to understanding how a tumor develops and metastasizes and for developing targeted therapies.

8 Jun 2016

Lund researchers discover two new types of childhood leukaemia

Through a detailed study of leukaemia cells from more than 200 children, a research group at Lund University in Sweden has discovered two new types of childhood leukaemia.

8 Jun 2016

New study sheds light on impact of unknown genetic mutations in cystic fibrosis patients

When it comes to cystic fibrosis (CF), more than 2,000 different genetic mutations have been reported. However, only 200 of them have been categorized - leaving a genetic soup of 1,800 others for scientists and genetic counselors to figure out.

8 Jun 2016

Mice implanted with human glia cells exhibit reduced symptoms of Huntington's disease

Researchers have successfully reduced the symptoms and slowed the progression of Huntington's disease in mice using healthy human brain cells. The findings, which were published today in the journal Nature Communications, could ultimately point to a new method to treat the disease.

7 Jun 2016

New systems-based strategy may help accelerate TB drug discovery

The rise in multi-drug resistant (MDR) and extremely drug resistant (XDR) strains of Mycobacterium tuberculosis (MTB) is becoming a major cause of global health concern for treating tuberculosis, which affects a third of the global population.

7 Jun 2016

Mutation News and Research

Consensus paper on atrial cardiomyopathies could be important step forward for research, treatment

New study may help unveil structure and behavior of neurotoxic oligomers in Alzheimer's disease

Scientists identify gene linked to severe glaucoma in children

Discovery on new form ETV6-related thrombocytopenia presented at EHA Annual Congress

New research offers more insights into development of Kennedy's disease

Defects in cerebrospinal fluid flow may contribute to scoliosis during adolescence

About 30% of iPSCs not safe for clinical use, report multi-institutional researchers

RNA editing enzyme ADAR1 may play role in regeneration of leukemia stem cells

Study captures interactions of HIV-infected immune cells in living animal

New RNA aptamer can prevent pathogenic protein misfolding

Scientists discover new ZBTB7A gene mutation that promotes growth of cancer cells

Researchers receive $2.4 million grant to study effects of parenting on behavior of adolescents with FXS

Study provides insights into new pathways to generate universal vaccine against influenza viruses

New IVF-based technique can reduce risk of mothers passing on mitochondrial disease to infants

New technology can detect KRAS gene mutations, facilitate targeted therapies for lung and colorectal cancers

Researchers identify lymphatic endothelial lineage that shows potential for new anti-cancer treatment

Lund researchers discover two new types of childhood leukaemia

New study sheds light on impact of unknown genetic mutations in cystic fibrosis patients

Mice implanted with human glia cells exhibit reduced symptoms of Huntington's disease

New systems-based strategy may help accelerate TB drug discovery

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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