Mutation News and Research

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Mary Ann Liebert's peer-reviewed journal highlights latest developments in ocular gene therapy

Disorders of the eye are excellent targets for gene therapy because the ocular environment is readily accessible, relatively easy to monitor, and sequestered from the rest of the body.

10 May 2011

Researchers design new tool for identifying protein function from genetic code

Mayo Clinic researchers have designed a new tool for identifying protein function from genetic code. A team led by Stephen Ekker, Ph.D., succeeded in switching individual genes off and on in zebrafish, then observing embryonic and juvenile development.

10 May 2011

Genetic mutation linked to Kufs disease

According to a new study, a genetic mutation thought to be responsible for the rare hereditary brain disorder Kufs disease is finally identified. The research was carried out by Dr Melanie Bahlo and her team at the Walter and Eliza Hall Institute's bioinformatics department in Parkville, Australia, in partnership with neurologist and epilepsy specialists Professor Sam Berkovic and Dr Todor Arsov from the University of Melbourne, Australia.

10 May 2011

Three Ontario projects set to further knowledge and discovery in biomonitoring, drug development

As part of the Genome Canada Large-Scale Applied Research Project Competition, which as a whole awarded over $58 million to 16 projects across the country, the researchers in Ontario will be focusing on biomonitoring, understanding gene function with the aim of identifying genes or proteins for drug targets, and the creation of synthetic antibodies to target cancers and other diseases.

9 May 2011

NYU Langone researchers present recent findings at The Heart Rhythm Society 32nd annual sessions

Cardiologists from the Cardiac & Vascular Institute at NYU Langone Medical Center presented new research at The Heart Rhythm Society's 32nd Annual Scientific Sessions, May 4 -7 in San Francisco, California.

9 May 2011

Cempra to present solithromycin Phase 1 study data at ECCMID/ICC meeting

Cempra Pharmaceuticals, a developer of differentiated antibiotics, today announced an oral presentation showing that intravenous (IV) solithromycin demonstrates excellent tolerability and a favorable pharmacokinetic profile at IV doses up to 800 mg.

7 May 2011

Researchers find temperature-sensing protein in immune cells

Researchers at The Scripps Research Institute have found a temperature-sensing protein within immune cells that, when tripped, allows calcium to pour in and activate an immune response.

7 May 2011

Six1 transcription factor an essential regulator in development of embryonic lung epithelial stem cells

Scientists at The Saban Research Institute of Children's Hospital Los Angeles have provided the first evidence that Six1 transcription factor is an essential regulator in the development of embryonic lung epithelial stem cells.

6 May 2011

Scientists use new technologies to identify genetic cause of Kufs disease

Scientists from the Walter and Eliza Hall Institute and the University of Melbourne have used innovative new technologies to identify the gene responsible for a rare but fatal hereditary brain disorder. The discovery will make it possible to diagnose the disease through a blood test rather than a brain biopsy.

6 May 2011

Targeting Aurora A gene could halt rhabdoid tumor growth in children

There are no effective treatments for rhabdoid tumors - aggressive childhood cancers that usually strike children under three years old and affect the brain or kidneys. The disease is extremely rare - fewer than 10 cases are diagnosed each year in the U.S. - but is particularly difficult to treat and almost always fatal.

6 May 2011

Scripps Research receives CIRM grant for new research in stem cell biology and disease origins

Stem cells have huge potential in medicine because they have the ability to change or differentiate into many different cell types potentially providing a source of cells to replace those that have been permanently lost by a patient.

6 May 2011

Researchers solve mysteries of chikungunya's emergence in Asia

What causes a virus to suddenly begin infecting large numbers of people? Scientists have long known that the process they call "viral emergence" involves a wide variety of factors. Some are changes in the environment, either generated by natural causes or human activity. Others are internal, arising from accidental changes - mutations -in the virus' genetic code.

6 May 2011

Insight into breast cancer

Measuring the transfer of tiny amounts of energy from one protein to another on breast cancer cells has given scientists a detailed view of molecular interactions that could help predict how breast cancer patients will respond to particular therapies.

5 May 2011

New technique can reveal fat distribution in healthy human brain

Mapping the fat distribution of the healthy human brain is a key step in understanding neurological diseases, in general, and the neurodegeneration that accompanies Alzheimer's disease in particular. Antonio Veloso and colleagues, from the University of the Basque Country in Leioa, Spain, find a new technique to reveal the fat distribution of three different areas of the healthy human brain.

5 May 2011

Researchers discover new mechanism by which BRCA1 gene mutations can induce breast cancer

Two researchers from the Centre for Genomic Regulation in Barcelona have discovered a new mechanism by which mutations in gene BRCA1 can induce breast cancer.

5 May 2011

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

White matter disease covers a large group of disorders that affect the white matter, or myelin. In children these disorders are commonly genetic and often go undiagnosed. In new research, a team led by Raúl Estévez, a lecturer from the Department of Physiological Sciences II, based at the UB's Bellvitge Health Sciences Campus, working with the researcher Marjo van der Knaap, from the University Medical Centre at VU University Amsterdam, have identified mutant GLIALCAM as responsible for 25% of cases of megalencephalic leukoencephalopathy with subcortical cysts, a rare genetic disease affecting cerebral myelin.

4 May 2011

Scientists discover new gene underlying angle-closure glaucoma

Jackson Laboratory researchers and their collaborators have reported their discovery of a gene implicated in an acute and severe form of glaucoma known as angle-closure glaucoma.

3 May 2011

ARVO announces 2011 award recipients in retinal research

The Association for Research in Vision and Ophthalmology is pleased to announce its 2011 ARVO Award recipients. These award recipients will be acknowledged at the ARVO 2011 Annual Meeting, May 1 - 5, in Fort Lauderdale, Fla.

2 May 2011

Researchers discover two mutations responsible for neurological condition

Mayo Clinic researchers have discovered two mutations responsible for a devastating neurological condition they first identified 15 years ago. The researchers say their study -- appearing in Nature Genetics -- has revealed a new neural pathway that may help understand a variety of similar conditions.

2 May 2011

Researchers unravel mechanism behind sickle hemoglobin protection against malaria

The latest issue of the journal Cell carries an article that is likely to help solve one of the long-standing mysteries of biomedicine. In a study that challenges currently held views, researchers at the Instituto Gulbenkian de Ci-ncia, in Portugal, unravel the molecular mechanism whereby sickle cell hemoglobin confers a survival advantage against malaria, the disease caused by Plasmodium infection.

29 Apr 2011

Mutation News and Research

Mary Ann Liebert's peer-reviewed journal highlights latest developments in ocular gene therapy

Researchers design new tool for identifying protein function from genetic code

Genetic mutation linked to Kufs disease

Three Ontario projects set to further knowledge and discovery in biomonitoring, drug development

NYU Langone researchers present recent findings at The Heart Rhythm Society 32nd annual sessions

Cempra to present solithromycin Phase 1 study data at ECCMID/ICC meeting

Researchers find temperature-sensing protein in immune cells

Six1 transcription factor an essential regulator in development of embryonic lung epithelial stem cells

Scientists use new technologies to identify genetic cause of Kufs disease

Targeting Aurora A gene could halt rhabdoid tumor growth in children

Scripps Research receives CIRM grant for new research in stem cell biology and disease origins

Researchers solve mysteries of chikungunya's emergence in Asia

Insight into breast cancer

New technique can reveal fat distribution in healthy human brain

Researchers discover new mechanism by which BRCA1 gene mutations can induce breast cancer

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

Scientists discover new gene underlying angle-closure glaucoma

ARVO announces 2011 award recipients in retinal research

Researchers discover two mutations responsible for neurological condition

Researchers unravel mechanism behind sickle hemoglobin protection against malaria

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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