Mutation News and Research

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FDA approves cancer drug Afinitor for treatment of rare genetic disorder

The U.S. Food and Drug Administration approved the cancer drug Afinitor (everolimus) on Friday to treat patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis (TS), a rare genetic disorder. This approval was for treatments of SEGA that can not be treated with surgery.

1 Nov 2010

FDA grants orphan drug designation to Discovery's KL4 surfactant for CF treatment

Discovery Laboratories, Inc. today announced that the Office of Orphan Products Development of the United States Food and Drug Administration (FDA) has granted orphan drug designation to Discovery's KL4 surfactant for the treatment of cystic fibrosis (CF).

1 Nov 2010

Life Technologies announces launch of new sequencer to deliver genomic data

Life Technologies Corporation a provider of innovative life science solutions, today announced the launch of the 5500xl SOLiD Sequencer, a new instrument designed to deliver the industry's fastest and most accurate genomic data for cancer biology and genetic disease research.

1 Nov 2010

Gilead to present data of two Phase III trials evaluating Viread efficacy for HBV infection at The Liver Meeting 2010

Gilead Sciences, Inc. today announced new data from the open-label phase of two pivotal Phase III clinical trials (Studies 102 and 103) evaluating the four-year efficacy of Viread (tenofovir disoproxil fumarate) for the treatment of chronic hepatitis B virus (HBV) infection.

1 Nov 2010

Life Technologies and BGI partner to offer whole human genome resequencing on SOLiD™ 4 System

Life Technologies Corporation and BGI (formerly Beijing Genomics Institute) announced today that they have partnered to offer whole human genome resequencing on the SOLiD™ 4 System. BGI, one of the world's largest genomic centers, has acquired 27 SOLiD 4 Systems, which will allow BGI to deliver 50 whole human genome sequences a month.

29 Oct 2010

Study suggests microRNA binding site helps improved prognosis of colorectal cancer at early stage

A variant site linked to poor outcome in advanced colorectal cancer has now been found to predict improved prognosis in early stages of cancer, according to research presented at the American Association for Cancer Research special conference on Colorectal Cancer: Biology to Therapy, held Oct. 27-30, 2010.

29 Oct 2010

University of Montreal contributes to '1000 Genomes Project'

Mutations in DNA are a normal part of life. Sometimes these variations give rise to unique and beneficial traits including the creation of a new species, other times they cause devastating diseases. We are now another step closer to capturing most of the DNA mutations in humans thanks to an international study cataloging all forms of DNA variation from five populations from Europe, East Asia, South Asia, West Africa and the Americas, in the "1000 Genomes Project".

29 Oct 2010

Study finds genetic variants that may modify breast cancer risk among women with BRCA2 mutation

An international study led by researchers at Memorial Sloan-Kettering Cancer Center has identified genetic variants in women with BRCA2 mutations that may increase or decrease their risk of developing breast cancer. The study was published today online in the open-access journal PLoS Genetics.

29 Oct 2010

Nanomedicine Center for Nucleoprotein Machines receives $16.1 million NIH award

The Georgia Tech-led Nanomedicine Center for Nucleoprotein Machines has received an award of $16.1 million for five years as part of its renewal by the National Institutes of Health (NIH). The eight-institution research team plans to pursue development of a clinically viable gene correction technology for single-gene disorders and demonstrate the technology's efficacy with sickle cell disease.

29 Oct 2010

New approach for early diagnosis of pancreatic cancer

Pancreatic tumors are one of the most lethal cancers, with fewer than five percent of patients surviving five years after diagnosis. But a new study that peers deeply into the genetics of pancreatic cancer presents a bit of good news an opportunity for early diagnosis. In contrast to earlier predictions, many pancreatic tumors are, in fact, slow growing, taking nearly 20 years to become lethal after the first genetic perturbations appear.

29 Oct 2010

Prominent scientist in mitochondrial genetics joins Children's Hospital to establish CMEM

Douglas C. Wallace, Ph.D., a pioneer and internationally prominent scientist in the field of human mitochondrial genetics, has joined The Children's Hospital of Philadelphia to continue his investigations into the role of mitochondrial energy in health and disease.

29 Oct 2010

New iPSC cell lines could help in treating patients with lung diseases

A team of researchers from Boston University's Center for Regenerative Medicine and the Pulmonary Center have generated 100 new lines of human induced pluripotent stem cells (iPSC) from individuals with lung diseases, including cystic fibrosis and emphysema. The new stem cell lines could possibly lead to new treatments for these debilitating diseases.

29 Oct 2010

Inefficient suppression of DUX4 gene causes facioscapulohumeral dystrophy: Study

An international team of researchers led by an investigator from Fred Hutchinson Cancer Research Center has made a second critical advance in determining the cause of a common form of muscular dystrophy known as facioscapulohumeral dystrophy, or FSHD.

29 Oct 2010

Pharmasset's PSI-938 phase I monotherapy trial shows positive result for HCV treatment

Pharmasset, Inc. reported positive preliminary results today from its phase I monotherapy trial of PSI-352938 for the treatment of chronic hepatitis C (HCV). PSI-938 is a guanosine nucleotide analog polymerase inhibitor in development for the treatment of chronic HCV infection.

28 Oct 2010

QLT expands QLT091001 Phase 1b LCA study to include patients with Retinitis Pigmentosa

QLT Inc. today announced expansion of the Phase 1b clinical proof-of-concept study of QLT091001 in the treatment of Leber Congenital Amaurosis (LCA) to include patients with Retinitis Pigmentosa (RP), a set of hereditary retinal diseases demonstrating clinical features similar to LCA.

28 Oct 2010

Pancreatic cancer develops and spreads more slowly than thought before

Pancreatic cancer develops and spreads much more slowly than scientists have thought, according to new research from Johns Hopkins investigators. The finding indicates that there is a potentially broad window for diagnosis and prevention of the disease.

28 Oct 2010

World's largest research initiative to mutate all mouse genes

The world's largest research initiative to mutate all mouse genes is now able to reach the summit because the ambitious EUCOMMTOOLS project started on October 1, 2010. This project is being coordinated by Helmholtz Zentrum München and will finalize the groundwork for the analysis of all mouse gene functions. The findings will contribute to a better understanding of the pathogenesis of widespread diseases such as Alzheimer's, depression, diabetes, chronic lung diseases or cancer.

28 Oct 2010

Researchers unveil evolution in pancreatic tumours

In new research published today, researchers uncover evolution in action in cancer cells. They show the forces of evolution in pancreatic tumours mean that not only is cancer genetically different between different patients, but each new focus of cancer spread within a patient has acquired distinct mutations.

28 Oct 2010

1000 Genomes Project publishes comprehensive map of genetic variations in Nature journal

Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. Today in the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.

28 Oct 2010

New oral drug shrinks IMT sarcoma driven by abnormally activated protein

A new oral drug caused dramatic shrinkage of a patient's rare, aggressive form of soft-tissue cancer that was driven by an abnormally activated protein, physician-scientists from Dana-Farber Cancer Institute report in the Oct. 28 issue of the New England Journal of Medicine.

28 Oct 2010

Mutation News and Research

FDA approves cancer drug Afinitor for treatment of rare genetic disorder

FDA grants orphan drug designation to Discovery's KL4 surfactant for CF treatment

Life Technologies announces launch of new sequencer to deliver genomic data

Gilead to present data of two Phase III trials evaluating Viread efficacy for HBV infection at The Liver Meeting 2010

Life Technologies and BGI partner to offer whole human genome resequencing on SOLiD™ 4 System

Study suggests microRNA binding site helps improved prognosis of colorectal cancer at early stage

University of Montreal contributes to '1000 Genomes Project'

Study finds genetic variants that may modify breast cancer risk among women with BRCA2 mutation

Nanomedicine Center for Nucleoprotein Machines receives $16.1 million NIH award

New approach for early diagnosis of pancreatic cancer

Prominent scientist in mitochondrial genetics joins Children's Hospital to establish CMEM

New iPSC cell lines could help in treating patients with lung diseases

Inefficient suppression of DUX4 gene causes facioscapulohumeral dystrophy: Study

Pharmasset's PSI-938 phase I monotherapy trial shows positive result for HCV treatment

QLT expands QLT091001 Phase 1b LCA study to include patients with Retinitis Pigmentosa

Pancreatic cancer develops and spreads more slowly than thought before

World's largest research initiative to mutate all mouse genes

Researchers unveil evolution in pancreatic tumours

1000 Genomes Project publishes comprehensive map of genetic variations in Nature journal

New oral drug shrinks IMT sarcoma driven by abnormally activated protein

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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