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N30 Pharma begins oral dosing in N91115 Phase 1 trial for treatment of cystic fibrosis

N30 Pharmaceuticals, Inc. announced today that it has begun oral dosing of N91115 in a Phase 1 clinical trial. N91115, a novel inhibitor of S-nitrosoglutathione reductase (GSNOR), is being developed for the treatment of cystic fibrosis (CF).

12 Mar 2014

Three innovative tools to detect, test and initiate personalized drug treatment for seizures

A team of researchers from the National Institutes of Health, Emory University and Cedars-Sinai - specialists in identifying and treating very rare diseases - used three innovative tools to detect a previously unknown gene mutation, test potential therapies in the lab, and initiate personalized drug treatment for a boy with a lifelong history of uncontrollable seizures that caused significant impact on his cognitive and social development.

12 Mar 2014

Exosome Diagnostics closes Series B financing round with the raising of $27 million

Exosome Diagnostics today announced the initial close of its Series B financing round with the raising of $27 million. Proceeds will be used to advance development of the Company's proprietary platform technology and commercial programs for non-invasive, fluid-based molecular diagnostics in oncology, neurodegenerative diseases and other clinical areas.

11 Mar 2014

Researchers investigate stickiness of leukaemia cells and its link to drug resistance

Researchers in Manchester have investigated the stickiness of leukaemia cells, and whether this is linked to drug resistance.

11 Mar 2014

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

Ben-Gurion University of the Negev (BGU) researchers have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry, according to a study published this week online in the Journal of Medical Genetics.

11 Mar 2014

Researchers seek to understand causes of premature birth with support from March of Dimes

Five researchers seeking to understand the causes of premature birth with the goal of identifying women at risk of preterm labor and developing new treatments to prevent it have been awarded grant support from the March of Dimes.

10 Mar 2014

Researchers find that protein synthesis can be studied in adult stem cells

For the first time, researchers have shown that an essential biological process known as protein synthesis can be studied in adult stem cells - something scientists have long struggled to accomplish. The groundbreaking findings from the Children's Medical Center Research Institute at UT Southwestern (CRI) also demonstrate that the precise amount of protein produced by blood-forming stem cells is crucial to their function.

10 Mar 2014

New theory regarding cause and development of endometriosis

Changes to two previously unstudied genes are the centerpiece of a new theory regarding the cause and development of endometriosis, a chronic and painful disease affecting 1 in 10 women.

10 Mar 2014

Inherited Alzheimer's neuronal damage begins 10 to 20 years before symptoms appear

In a paper published in the prestigious journal Science Translational Medicine, Professor Colin Masters from the Florey Institute of Neuroscience and Mental Health and University of Melbourne - and colleagues in the UK and US - have found rapid neuronal damage begins 10 to 20 years before symptoms appear.

10 Mar 2014

Mutations in gene associated with leukaemia may affect growth, intellectual development in children

Mutations in a gene associated with leukaemia cause a newly described condition that affects growth and intellectual development in children, new research reports.

10 Mar 2014

STSI releases Scripps Wellderly Genome Resource to explore genetic cause for certain illness

Scientists exploring the genetic causes of illnesses such as Alzheimer's disease, heart disease, cancer and diabetes now have a new tool - a reference DNA dataset built by researchers at Scripps Translational Science Institute (STSI).

7 Mar 2014

BWH researchers explore newer approaches to treat Alzheimer's disease

A team of Alzheimer's disease (AD) researchers at Brigham and Women's Hospital (BWH) has been able to study the underlying causes of AD and develop assays to test newer approaches to treatment by using stem cells derived from related family members with a genetic predisposition to (AD).

7 Mar 2014

Scientists throw light on genetic mutation that causes particularly severe genetic disease ARVC5

The genetic disease ARVC leads to sudden cardiac death and is more common than it has been hitherto assumed. This is reported by an international team of researchers headed by Prof Dr Hendrik Milting from the Heart and Diabetes Center NRW in the "European Heart Journal".

7 Mar 2014

New findings shed light on how gene mutation causes motor neurone disease

Researchers have discovered a mechanism that may explain how a recently discovered mutation causes two devastating neurological diseases.

6 Mar 2014

Scientists throw light on genetic mutation that causes ARVC5 in Newfoundland

Scientists have thrown light on the genetic mutation that causes a particularly severe genetic disease (ARVC5) on the Canadian island Newfoundland in 2008.

6 Mar 2014

Scientists reveal how a genetic code variation results in devastating brain diseases

New findings reveal how a mutation, a change in the genetic code that causes neurodegeneration, alters the shape of DNA, making cells more vulnerable to stress and more likely to die.

6 Mar 2014

Specific protein has vital role in controlling symptoms of allergic asthma, say researchers

An enzyme that helps maintain immune system function by "throwing away" a specific protein has a vital role in controlling symptoms of allergic asthma, new research in mice suggests.

6 Mar 2014

Treating cystic fibrosis: an interview with Simon Bedson, Senior Vice President and International General Manager at Vertex

Cystic fibrosis is a rare, life-shortening genetic disease for which there is no cure. It affects more than 75,000 people worldwide. In CF, thick, sticky mucus blocks the passages in many organs, leading to a variety of symptoms. In particular, mucus builds up and clogs airways in the lungs making it easier for bacteria to grow.

5 Mar 2014

Metabolon agrees to provide biochemical profiling services to Human Longevity

Metabolon, Inc., the world's leading commercial-stage metabolomics company, announces the signing of an agreement with newly-launched Human Longevity Inc., whereby Metabolon will provide biochemical profiling services to assist HLI in its mission to tackle diseases of aging by building the world's largest and most complete human genotype, microbiome and phenotype database.

5 Mar 2014

Plant pigment could prevent damage to nerves linked with childhood form of SMA

The research team have found that a plant pigment called quercetin - present in some fruits, vegetables, herbs and grains - could help to prevent damage to the nerves associated with the childhood form of motor neurone disease, spinal muscular atrophy (SMA).

5 Mar 2014

Mutation News and Research

N30 Pharma begins oral dosing in N91115 Phase 1 trial for treatment of cystic fibrosis

Three innovative tools to detect, test and initiate personalized drug treatment for seizures

Exosome Diagnostics closes Series B financing round with the raising of $27 million

Researchers investigate stickiness of leukaemia cells and its link to drug resistance

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

Researchers seek to understand causes of premature birth with support from March of Dimes

Researchers find that protein synthesis can be studied in adult stem cells

New theory regarding cause and development of endometriosis

Inherited Alzheimer's neuronal damage begins 10 to 20 years before symptoms appear

Mutations in gene associated with leukaemia may affect growth, intellectual development in children

STSI releases Scripps Wellderly Genome Resource to explore genetic cause for certain illness

BWH researchers explore newer approaches to treat Alzheimer's disease

Scientists throw light on genetic mutation that causes particularly severe genetic disease ARVC5

New findings shed light on how gene mutation causes motor neurone disease

Scientists throw light on genetic mutation that causes ARVC5 in Newfoundland

Scientists reveal how a genetic code variation results in devastating brain diseases

Specific protein has vital role in controlling symptoms of allergic asthma, say researchers

Treating cystic fibrosis: an interview with Simon Bedson, Senior Vice President and International General Manager at Vertex

Metabolon agrees to provide biochemical profiling services to Human Longevity

Plant pigment could prevent damage to nerves linked with childhood form of SMA

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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