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Advanced genetic testing can help identify discrete forms of ASD

Autism spectrum disorders (ASD) are not completely understood neurodevelopmental disorders diagnosed solely on the basis of behavioral assessments of social, communicative and repetitive symptoms. T

2 Sep 2015

Altering protein recycling complexes in human cells may help overcome chemotherapy resistance

Altering the protein recycling complexes in human cells, including cancer cells, allows the cells to resist treatment with a class of drugs known as proteasome inhibitors, according to Whitehead Institute scientists.

2 Sep 2015

European cardiomyopathies registry shows higher than expected use of defibrillators, genetic testing

The most representative snapshot of real world practice in cardiomyopathies in Europe has shown a higher than expected use of defibrillators and genetic testing. The baseline results of the ESC's EORP Cardiomyopathy Registry Pilot are presented for the first time today at ESC Congress 2015.

2 Sep 2015

New testing methods may help identify genetic mutations potentially linked to autism among children

The use of two newer genetic testing technologies (chromosomal microarray analysis and whole-exome sequencing) among children with autism spectrum disorder may help identify genetic mutations potentially linked to the disorder, according to a study in the September 1 issue of JAMA.

2 Sep 2015

Researchers find genetic cause of previously unknown disease

Researchers at the University of Oslo and Oslo University Hospital have found the genetic cause of a previously undescribed disease. With this, they have solved an over ten year old medical conundrum.

1 Sep 2015

UCSF-led team develops new technique to create tiny models of human tissues

A UCSF-led team has developed a technique to build tiny models of human tissues, called organoids, more precisely than ever before using a process that turns human cells into a biological equivalent of LEGO bricks. These mini-tissues in a dish can be used to study how particular structural features of tissue affect normal growth or go awry in cancer. They could be used for therapeutic drug screening and to help teach researchers how to grow whole human organs.

1 Sep 2015

Newly discovered prion causes Multiple System Atrophy

Multiple System Atrophy (MSA), a neurodegenerative disorder with similarities to Parkinson's disease, is caused by a newly discovered type of prion, akin to the misfolded proteins involved in incurable progressive brain diseases such Creutzfeldt-Jakob Disease (CJD), according to two new research papers led by scientists at UC San Francisco.

1 Sep 2015

Researchers provide new insights into biology of aging, age-related diseases

The scientific team of a new biotech company Gero in collaboration with one of the leading academics in the field of aging Prof. Robert J. Shmookler Reis (current world record holder in life extension for model animals - 10 fold for nematodes) has recently brought new insights into biology of aging and age-related diseases, primarily, around the stability and stress resistance of certain gene regulatory networks.

28 Aug 2015

Scientists reveal role of dynamin and show how specific mutations impair function of dynamin

Cells continually form membrane vesicles that are released into the cell. If this vital process is disturbed, nerve cells, for example, cannot communicate with each other. The protein molecule dynamin is essential for the regulated formation and release of many vesicles.

28 Aug 2015

Researchers identify drugs that may enhance ability of TKI dasatinib to kill human cancer cells

Researchers have discovered how a common mutation in a high-risk leukemia subtype drives the cancer's aggressiveness and have identified drugs that may work with existing precision medicines to improve survival. St. Jude Children's Research Hospital scientists led the study, which was published online today in the journal Cancer Cell.

28 Aug 2015

Research: Mechanisms behind bacterial warfare could be harnessed to target pathogenic bacteria

Two UC Santa Barbara graduate students have demonstrated how certain microbes exploit proteins in nearby bacteria to deliver toxins and kill them.

28 Aug 2015

Brain cells in Parkinson's disease die prematurely, burning out like an overheating motor

The death of brain cells in Parkinson's disease may be caused by a form of cellular energy crisis in neurons that require unusually high quantities of energy to carry out their job of regulating movement, researchers at the University of Montreal reported today.

28 Aug 2015

Scientists generate pluripotent stem cells with more stable genomes

Damaged tissue, such as pancreas, heart, and neuronal tissue, which is regenerated to treat cardiovascular diseases, diabetes, or neurodegenerative diseases. This is one of the ambitious scenarios to which regenerative medicine aspires and that is being announced as one of the great promises of twenty-first century biomedicine for the treatment of a long list of diseases affecting people today.

28 Aug 2015

Obesity raises Lynch syndrome CRC risk

Obesity increases the risk of colorectal cancer in patients with Lynch syndrome, research indicates, but daily aspirin use may combat this excess risk.

27 Aug 2015

Discovery could help in development of novel cancer-selective viral therapies

Every organism--from a seedling to a president--must protect its DNA at all costs, but precisely how a cell distinguishes between damage to its own DNA and the foreign DNA of an invading virus has remained a mystery.

27 Aug 2015

New test predicts breast cancer relapse months in advance

UK-based researchers have developed a blood test that can predict whether patients with breast cancer will experience a relapse after receiving treatment, months before tumors are visible using hospital scans.

27 Aug 2015

Study sheds further light on the way APOL1 protein kills trypanosmoe

The African trypanosome Trypanosoma brucei is a blood parasite capable of infecting many mammals. Humans are provided with natural immunity against infection through the activity of the protein apolipoprotein L1 (APOL1): captured via endocytosis, APOL1 forms pores in the lysosomal membrane, leading to the death of the trypanosome.

27 Aug 2015

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

About 3% of colorectal cancers are due to Lynch syndrome, an inherited cancer susceptibility syndrome that predisposes individuals to various cancers. Close blood relatives of patients with Lynch syndrome have a 50% chance of inheritance. The role that PMS2 genetic mutations play in Lynch syndrome has been underestimated in part due to technological limitations.

27 Aug 2015

Researchers design online database to help researchers identify cancer gene mutations

Many clinical trials use genome sequencing to learn which gene mutations are present in a patient's tumor cells. The question is important because targeting the right mutations with the right drugs can stop cancer in its tracks. But it can be difficult to determine whether there is evidence in the medical literature that particular mutations might drive cancer growth and could be targeted by therapy, and which mutations are of no consequence.

27 Aug 2015

Two studies highlight important new discovery around most common genetic defect linked to ALS

In today's issue of Nature, two new studies funded in part by The ALS Association both highlight an important new discovery around the C9orf72 mutation, the most common genetic defect associated with amyotrophic lateral sclerosis (ALS).

27 Aug 2015

Mutation News and Research

Advanced genetic testing can help identify discrete forms of ASD

Altering protein recycling complexes in human cells may help overcome chemotherapy resistance

European cardiomyopathies registry shows higher than expected use of defibrillators, genetic testing

New testing methods may help identify genetic mutations potentially linked to autism among children

Researchers find genetic cause of previously unknown disease

UCSF-led team develops new technique to create tiny models of human tissues

Newly discovered prion causes Multiple System Atrophy

Researchers provide new insights into biology of aging, age-related diseases

Scientists reveal role of dynamin and show how specific mutations impair function of dynamin

Researchers identify drugs that may enhance ability of TKI dasatinib to kill human cancer cells

Research: Mechanisms behind bacterial warfare could be harnessed to target pathogenic bacteria

Brain cells in Parkinson's disease die prematurely, burning out like an overheating motor

Scientists generate pluripotent stem cells with more stable genomes

Obesity raises Lynch syndrome CRC risk

Discovery could help in development of novel cancer-selective viral therapies

New test predicts breast cancer relapse months in advance

Study sheds further light on the way APOL1 protein kills trypanosmoe

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

Researchers design online database to help researchers identify cancer gene mutations

Two studies highlight important new discovery around most common genetic defect linked to ALS

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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