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MD Anderson researchers find high prevalence of hereditary CRC among people diagnosed before the age of 35

Hereditary colorectal cancers, caused by inherited gene mutations, are relatively rare for most patients. However, researchers at The University of Texas MD Anderson Cancer Center have discovered a particularly high prevalence of hereditary cancers among those diagnosed with the disease before the age of 35. They suggest that these patients should undergo genetic counseling to determine if their families may be at an elevated risk.

21 Jul 2015

Alzheimer's Association recognizes four scientists with Lifetime Achievement Awards at AAIC 2015

The Alzheimer's Association recognizes four leading scientists for their contributions to advancing Alzheimer's disease and dementia research. The awards were presented during the opening session at the Alzheimer's Association International Conference 2015 in Washington, D.C.

21 Jul 2015

Study finds mechanism that identifies cause of intellectual disabilities in autism, Rett syndrome

The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in part caused by a mutation in the control switch gene called MeCP2.

21 Jul 2015

Research: 'Pill on a string' could help detect early signs of oesophageal cancer

A 'pill on a string' developed by researchers at the University of Cambridge could help doctors detect oesophageal cancer - cancer of the gullet - at an early stage, helping them overcome the problem of wide variation between biopsies, suggests research published today in the journal Nature Genetics.

21 Jul 2015

NeoGenomics announces launch of new germline cancer predisposition testing services

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today the launch of a new line of germline cancer predisposition testing services. The new tests include comprehensive testing for BRCA1 and BRCA2 encompassing an analysis of all exons and adjacent intronic regions.

20 Jul 2015

Researchers find evidence that directly links disrupted metabolism to fatal type of lymphoma

Researchers from the School of Medicine at The University of Texas Health Science Center at San Antonio have found evidence that directly links disrupted metabolism (energy production in cells) to a common and often fatal type of lymphoma.

20 Jul 2015

New research reveals how DNA influences severity of any genetic disease

That two people with the same disease-causing mutation do not get sick to the same extent has been puzzling scientists for decades. Now Professor Andy Fraser and his team have uncovered a key part of what makes every patient different.

17 Jul 2015

Yale researchers provide genetically personalized care for patients with thoracic aortic aneurysms

Researchers at the Aortic Institute at Yale have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care. Their work will also lead to the development of a "dictionary" of genes specific to the disease, according to researchers.

17 Jul 2015

BUSM investigators receive MRA's Jackie King Young Investigator Awards

Boston University School of Medicine researchers Neil Joseph Ganem, PhD and Anurag Singh, PhD, each have received the Jackie King Young Investigator Awards from the Melanoma Research Alliance (MRA), the largest private funder of melanoma research. Both serve as assistant professors of pharmacology & experimental therapeutics and medicine.

17 Jul 2015

Changes in body temperature can cause sudden cardiac death, finds SFU research

Scientists, including SFU professor Peter Ruben, have found that sudden death caused by cardiac arrhythmia can be triggered by changes in body temperature. The study is published in the Journal of Physiology.

17 Jul 2015

Genetic mutation associated with severe loss of body fat, appearance of premature aging in children identified

Researchers at the Translational Genomics Research Institute have identified a genetic mutation associated with the appearance of premature aging and severe loss of body fat in children.

17 Jul 2015

UW researchers help develop new compound to combat malaria

An international team of scientists — led by researchers from the University of Washington and two other institutions — has announced that a new compound to fight malaria is ready for human trials. In a new paper published July 15 in Science Translational Medicine, they show that this compound is the first to cripple a critical protein that the malaria parasite needs to survive at different stages of its complex life cycle, and is suitable for clinical tests in humans.

16 Jul 2015

TSRI scientists reveal how mutations in specific autism risk gene alter pattern of early brain development

As early as 1943, when autism was first described by psychiatrist Leo Kanner, reports were made that some, but not all, children with autism spectrum disorder have relatively enlarged heads. But even today, more than half a century later, the exact cause of this early abnormal growth of the head and brain has remained unclear.

16 Jul 2015

Study stresses importance of investigating telomeres to improve diagnoses, develop treatments for many diseases

Studying telomeres, the structures that protect the ends of chromosomes, has become a key issue in biology. In recent years, not only has their relation to ageing been confirmed; defective telomeres seem to be linked to more and more illnesses, including many types of cancer.

16 Jul 2015

Research breakthrough opens door to a world of regenerative medicine for treating mitochondrial disease

A study led by Shoukhrat Mitalipov, Ph.D., and Hong Ma, M.D., Ph.D., at the Center for Embryonic Cell and Gene Therapy at Oregon Health & Science University and the Oregon National Primate Research Center has revealed the first critical step in developing novel gene and stem cell therapy treatments for patients with mitochondrial disease.

16 Jul 2015

University of Bristol-led study could provide new target for treating neurological disorders

Findings, published today [15 Jul] in Nature Communications, reveal the extent a mutation associated with autism and epilepsy plays in impairing a biochemical process in the brain. The study, led by University of Bristol researchers, could provide a new target for treating neurological disorders.

16 Jul 2015

Researchers identify gene that underlies thinking skills

An international team of researchers, including investigators from the University of Mississippi Medical Center, has identified a gene that underlies healthy information processing -- a first step on a complicated road to understand cognitive aging and age-related diseases, such as Alzheimer's disease.

16 Jul 2015

U of T researchers discover new details about key gene involved in ALS

A University of Toronto research team has discovered new details about a key gene involved in ALS, perhaps humanity's most puzzling, intractable disease.

16 Jul 2015

Salk researchers move one step closer to making cures for genetic diseases a reality

Healthy brain, muscle, eye and heart cells would improve the lives of tens of thousands of people around the world with debilitating mitochondrial diseases. Now, researchers at the Salk Institute have gotten one step closer to making such cures a reality: they've turned cells from patients into healthy, mutation-free stem cells that can then become any cell type.

16 Jul 2015

Rubicon Genomics completes $2 million growth capital financing

Rubicon Genomics, Inc., a provider of innovative pre-analytical reagent kits to improve the performance of genomic analytical platforms and enable the use of liquid biopsies, today announced that it has completed a $2 million growth capital financing.

15 Jul 2015

Mutation News and Research

MD Anderson researchers find high prevalence of hereditary CRC among people diagnosed before the age of 35

Alzheimer's Association recognizes four scientists with Lifetime Achievement Awards at AAIC 2015

Study finds mechanism that identifies cause of intellectual disabilities in autism, Rett syndrome

Research: 'Pill on a string' could help detect early signs of oesophageal cancer

NeoGenomics announces launch of new germline cancer predisposition testing services

Researchers find evidence that directly links disrupted metabolism to fatal type of lymphoma

New research reveals how DNA influences severity of any genetic disease

Yale researchers provide genetically personalized care for patients with thoracic aortic aneurysms

BUSM investigators receive MRA's Jackie King Young Investigator Awards

Changes in body temperature can cause sudden cardiac death, finds SFU research

Genetic mutation associated with severe loss of body fat, appearance of premature aging in children identified

UW researchers help develop new compound to combat malaria

TSRI scientists reveal how mutations in specific autism risk gene alter pattern of early brain development

Study stresses importance of investigating telomeres to improve diagnoses, develop treatments for many diseases

Research breakthrough opens door to a world of regenerative medicine for treating mitochondrial disease

University of Bristol-led study could provide new target for treating neurological disorders

Researchers identify gene that underlies thinking skills

U of T researchers discover new details about key gene involved in ALS

Salk researchers move one step closer to making cures for genetic diseases a reality

Rubicon Genomics completes $2 million growth capital financing

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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