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Data emphasise need for comprehensive analysis of mtDNA in mitochondrial disease patients

French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a mitochondrial disease manifesting itself as a respiratory deficiency.

10 Jun 2013

USC scientists unlock mystery of why new cases of Noonan Syndrome are so common

Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait.

10 Jun 2013

Researchers find new way to repair genetic defects in the skin cells of epidermolysis bullosa patients

A research team led by pediatric blood and marrow transplantation experts Mark Osborn, Ph.D. and Jakub Tolar, M.D., Ph.D. from the Masonic Cancer Center, University of Minnesota, have discovered a remarkable new way to repair genetic defects in the skin cells of patients with the skin disease epidermolysis bullosa.

10 Jun 2013

New gene variant found in human and animal tissue offers a promising treatment for cancer

A novel gene variant found in human and animal tissue may be a promising treatment for cancer, including breast and brain cancer, according to scientists from the Icahn School of Medicine at Mount Sinai.

7 Jun 2013

Genetic testing of chronic neutrophilic leukemia reveals presence of new mutation in patients

A recent article in the New England Journal of Medicine describes genetic testing of a rare blood cancer called atypical chronic neutrophilic leukemia (CNL) that revealed a new mutation present in most patients with the disease.

7 Jun 2013

Human Argonautes directly cuts messenger RNA

Human Argonautes (hAgo), are key proteins involved in a process known as RNA interference. RNAi, as it is often called, is a mechanism that cells use to regulate gene expression.

7 Jun 2013

Cow antibodies points to new ways for making human medicines

Humans have been raising cows for their meat, hides and milk for millennia. Now it appears that the cow immune system also has something to offer. A new study led by scientists from The Scripps Research Institute (TSRI) focusing on an extraordinary family of cow antibodies points to new ways to make human medicines.

7 Jun 2013

Molecular subtyping can predict chemotherapy benefit in patients with colorectal cancer

Molecular subtyping can help predict outcomes and chemotherapy benefit in patients with colorectal cancer, according to a presentation at the annual conference of the American Society of Clinical Oncology (ASCO).

6 Jun 2013

Medicago reports positive interim results from preclinical trial for H7 VLP vaccine candidate

Medicago Inc., a biopharmaceutical company focused on developing highly effective and competitive vaccines based on proprietary manufacturing technologies and Virus-Like Particles, today reported positive interim results from a preclinical trial for an H7N9 Avian Influenza VLP vaccine candidate ("H7 vaccine").

6 Jun 2013

Findings have implications for potential gene therapies for autism spectrum disorders

A gene linked to autism spectrum disorders that was manipulated in two lines of transgenic mice produced mature adults with irreversible deficits affecting either learning or social interaction.

6 Jun 2013

Research demonstrates need for development of new treatments for regeneration of nerve cells

Researchers at the University of Michigan have evidence that a single gene controls both halves of nerve cells, and their research demonstrates the need to consider that design in the development of new treatments for regeneration of nerve cells.

5 Jun 2013

Better understanding of breast milk variability, strategies for optimizing neonatal diet

The composition of breast milk varies from mother to mother, and genetic factors may affect the levels of protective components in breast milk that could influence a newborn's outcomes.

5 Jun 2013

UCLA researchers identify abnormal brain networks in Fragile X syndrome

The genetic malady known as Fragile X syndrome is the most common cause of inherited autism and intellectual disability. Brain scientists know the gene defect that causes the syndrome and understand the damage it does in misshaping the brain's synapses - the connections between neurons. But how this abnormal shaping of synapses translates into abnormal behavior is unclear.

5 Jun 2013

Duke researchers find novel way to repair gene responsible for Duchenne muscular dystrophy

Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular dystrophy, in cell samples from Duchenne patients.

5 Jun 2013

Research provides insights into potential new strategies to detect, treat and prevent breast cancer

New research provides critical insights into how normal breast precursor cells may be genetically vulnerable to develop into cancer. The research is published June 4th in the inaugural issue of Stem Cell Reports, an open-access journal from the International Society of Stem Cell Research published by Cell Press.

5 Jun 2013

Canadian researcher develops first animal model to study function of C9ORF72 in ALS

Canadian researcher Edor Kabashi of the Université de Montréal has developed the first animal model to study the function of a gene responsible for the highest percentage of ALS, commonly known as Lou Gehrig's disease. Results to date shed light on the cause of the devastating disease.

4 Jun 2013

First Edition: June 4, 2013

Today's headlines include a report about what the Democrats' health law strategy might be as the 2014 mid-term elections approach.

4 Jun 2013

Researchers establish link between abnormal structure of synapses and behavioral abnormalities of brain circuits in FXS

Fragile X syndrome (FXS) is a genetic malady that is the most common inherited cause of autism and intellectual disability. Brain scientists know the gene defect that causes FXS, and the damage it does-- misshaping the brain's synapses, the connections between neurons. But how that abnormal shaping of synapses translates to abnormal behavior is unclear.

4 Jun 2013

Discovery could reveal potential new drug options for malaria treatment

Malaria parasites that develop resistance to the most effective class of anti-malarial drugs may become susceptible to other treatments as a result. The discovery could reveal potential new drug options, which would be essential in the event of resistance to the best anti-malarials.

4 Jun 2013

Study: Mutations in gene NTRK1 cause a subset of lung cancers

To the list of oncogenic drivers of lung cancer that includes ALK, EGFR, ROS1 and RET, results of a University of Colorado Cancer Center study presented at ASCO 2013 show that mutations in the gene NTRK1 cause a subset of lung cancers.

4 Jun 2013

Mutation News and Research

Data emphasise need for comprehensive analysis of mtDNA in mitochondrial disease patients

USC scientists unlock mystery of why new cases of Noonan Syndrome are so common

Researchers find new way to repair genetic defects in the skin cells of epidermolysis bullosa patients

New gene variant found in human and animal tissue offers a promising treatment for cancer

Genetic testing of chronic neutrophilic leukemia reveals presence of new mutation in patients

Human Argonautes directly cuts messenger RNA

Cow antibodies points to new ways for making human medicines

Molecular subtyping can predict chemotherapy benefit in patients with colorectal cancer

Medicago reports positive interim results from preclinical trial for H7 VLP vaccine candidate

Findings have implications for potential gene therapies for autism spectrum disorders

Research demonstrates need for development of new treatments for regeneration of nerve cells

Better understanding of breast milk variability, strategies for optimizing neonatal diet

UCLA researchers identify abnormal brain networks in Fragile X syndrome

Duke researchers find novel way to repair gene responsible for Duchenne muscular dystrophy

Research provides insights into potential new strategies to detect, treat and prevent breast cancer

Canadian researcher develops first animal model to study function of C9ORF72 in ALS

First Edition: June 4, 2013

Researchers establish link between abnormal structure of synapses and behavioral abnormalities of brain circuits in FXS

Discovery could reveal potential new drug options for malaria treatment

Study: Mutations in gene NTRK1 cause a subset of lung cancers

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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