Mutation News and Research

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Prenatal molecular diagnosis for tuberous sclerosis complex

Geneticists from Boston University School of Medicine (BUSM) have reported the world's first series of cases of prenatal diagnosis for women at risk of having a child with tuberous sclerosis complex (TSC).

2 Mar 2009

Discovery of new potential therapeutic target for Barth Syndrome

Researchers at NYU Langone Medical Center may have discovered a new targeted intervention for Barth Syndrome (BTHS).

2 Mar 2009

Oseltamivir-resistant influenza A virus potentially serious to high-risk patients

A mutation of the influenza A(H1N1) virus that is resistant to the drug oseltamivir may pose a serious health threat to hospitalized patients who have a weakened immune system, according to a study to be published in the March 11 issue of JAMA, the Journal of the American Medical Association, and being released early online because of its public health importance.

2 Mar 2009

Discovery provides better understanding of craniosynostosis

Craniosynostosis develops in the womb and affects one in every 2500 live births. Bones in the skulls and face of sufferers fuse together prematurely causing a range of distressing developmental problems.

2 Mar 2009

Researchers isolate gene mutations in patients with inherited amyotrophic lateral sclerosis

Researchers at the University of Massachusetts Medical School (UMMS) have discovered a new gene whose mutations cause familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder.

26 Feb 2009

New gene associated with Lou Gehrig's disease

A collaborative research effort spanning nearly a decade between researchers at Massachusetts General Hospital (MGH) and King's College London (KCL) has identified a novel gene for inherited amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease).

26 Feb 2009

Why do teeth form in a single row?

A system of opposing genetic forces determines why mammals develop a single row of teeth, while sharks sport several, according to a study published in the journal Science.

26 Feb 2009

How obesity, diet and exercise influence our metabolism and interact with our genome

Research by kinesiology investigator Dustin Hittel, PhD, has proven that muscle in extremely obese individuals produces large amounts of a protein called myostatin, which normally inhibits muscle growth-suggesting that for Type 2 diabetics, and the very obese, the task of getting healthy may be more difficult than initially thought.

26 Feb 2009

A second MND gene mutation in one year signifies rapid research progress

A collaborative research project involving Professor Christopher Shaw of the Institute of Psychiatry, King's College London (KCL), Dr Tom Kwiatkowski at Massachusetts General Hospital (MGH) and Professor Robert H Brown at University of Massachusetts, has revealed that mutations in a gene called FUS (fused in sarcoma) cause familial Motor Neuron Disease (also known as Amyotrophic Lateral Sclerosis).

26 Feb 2009

Discovery of gene that modifies severity of cystic fibrosis lung disease

Researchers have discovered a gene that modifies the severity of lung disease in people with the lethal genetic condition, cystic fibrosis, pointing to possible new targets for treatment, according to a new study in Nature.

25 Feb 2009

New statistical model could predict an individual's lifetime risk of stroke

Using genetic information from 569 hospital patients, the researchers showed that their predictive model could estimate an individual's overall risk of cardioembolic stroke -- the most common form of stroke -- with 86 percent accuracy. The findings are reported in the March issue of Stroke.

25 Feb 2009

Discovery of gene that modifies severity of cystic fibrosis lung disease

25 Feb 2009

Could our mother's diet at time we are conceived set the course for our future health?

This intriguing question is at the heart of a new study based on an "experiment of nature" being conducted by Wellcome Trust-funded researchers.

25 Feb 2009

Scientists identify lab-made proteins that neutralize a broad range of influenza A viruses

Scientists have identified a small family of lab-made proteins that neutralize a broad range of influenza A viruses, including the H5N1 avian virus, the 1918 pandemic influenza virus and seasonal H1N1 flu viruses.

23 Feb 2009

Redesign technique for proteins

Proteins are widely viewed as a promising alternative to synthetic chemicals in everything from medications to hand lotion.

23 Feb 2009

Better sequence searches of genes and proteins

Since the sequencing of the human genome eight years ago, enormous progress has been made in analyzing and understanding it. Nevertheless, the function of most human genes is still barely understood.

23 Feb 2009

Scientists identify lab-made proteins that neutralize multiple strains of seasonal and pandemic flu

22 Feb 2009

Scientists identify human monoclonal antibodies effective against bird flu

Researchers at the Dana-Farber Cancer Institute (Dana-Farber), Burnham Institute for Medical Research (Burnham) and the Centers for Disease Control and Prevention (CDC) have reported the identification of human monoclonal antibodies (mAb) that neutralize an unprecedented range of influenza A viruses, including avian influenza A (H5N1) virus, previous pandemic influenza viruses, and some seasonal influenza viruses.

22 Feb 2009