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EMA accepts Otsuka's marketing authorisation application for tolvaptan for treatment of ADPKD

Otsuka Pharmaceutical Co., Ltd. announced today that the European Medicines Agency (EMA) has accepted the submission of a marketing authorisation application (MAA) for the potential approval of tolvaptan for the treatment of autosomal dominant polycystic kidney disease (ADPKD).

27 Dec 2013

Researchers complete genomic analysis of cervical cancer in two patient populations

Researchers from the Boston area, Mexico, and Norway have completed a comprehensive genomic analysis of cervical cancer in two patient populations. The study identified recurrent genetic mutations not previously found in cervical cancer, including at least one for which targeted treatments have been approved for other forms of cancer.

25 Dec 2013

Fluidigm announces universal sample prep workflow for single-cell DNA sequencing

Fluidigm Corporation today announced a universal sample prep workflow for single-cell DNA sequencing that runs on its C1TM Single-Cell Auto Prep System. This workflow streamlines targeted, whole exome and whole genome sequencing in heterogeneous cell populations and enables researchers to discover and screen somatic mutations, such as SNP, small indels, and translocations.

24 Dec 2013

Changes to LZTR1 gene predispose people to develop schwannomas

Changes to a gene called LZTR1 predispose people to develop a rare disorder where multiple tumors called schwannomas form near nerve pathways, according to a study published today in the journal Nature Genetics and led by researchers from the University of Alabama at Birmingham.

24 Dec 2013

Genetic screening identifies genes driving resistance with guide RNA library

Researchers have developed a method to create a comprehensive library of mutations across all genes in the mouse genome. This library can be used to examine the role of every gene in different cell types.

23 Dec 2013

European Commission approves update of Erbitux to treat patients with RAS wild-type mCRC

Merck Serono, the biopharmaceutical division of Merck, today announced that the European Commission has approved the Type II variation to amend the Erbitux(cetuximab) product information, updating the indication for Erbitux to the treatment of patients with RAS wild-type metastatic colorectal cancer (mCRC).

23 Dec 2013

Small molecule nonsense suppression strategy for aniridia-associated defects

Congenital aniridia is a progressive disease that is associated with improper development of eye structures as well as abnormalities in the brain and pancreas. A variety of nonsense mutations in the PAX6 gene are linked with aniridia; however, despite understanding the genetic basis of the disease, few treatment and prevention strategies are available.

22 Dec 2013

Scientists develop new potential cure for rare eye disease

University of British Columbia and Vancouver Coastal Health scientists have developed a potential cure for a rare eye disease, showing for the first time that a drug can repair a birth defect.

22 Dec 2013

Patients with Loeys-Dietz syndrome at increased risk for aortic aneurysm

Patients with the connective tissue disorder Loeys-Dietz syndrome are at high risk for aortic aneurysm. LDS results in the presence of missense mutations within either of the genes encoding receptors for TGF-β. LDS-associated mutations are predicted to reduce TGF-β signaling; however, aortic tissue samples from LDS patients indicate that TGF-β signaling may be enhanced.

22 Dec 2013

Six common diseases arise from DNA changes, finds new research

Many rare disorders are caused by gene mutation, like sickle cell anemia. Yet until now the underlying genetic cause of more common conditions - for example, rheumatoid arthritis - has evaded scientists for years.

22 Dec 2013

Neuroscience researchers discover gene that controls response to cocaine

UT Southwestern neuroscience researchers have identified a gene that controls the response to cocaine by comparing closely related strains of mice often used to study addiction and behavior patterns.

22 Dec 2013

Study reveals that K-Ras gene mutations behave in ways that subvert normal mechanisms of cell death

Cells with a mutation in the gene called K-Ras—found in close to 30 percent of all cancers, but mostly those with worst prognosis, such as pancreatic cancer, colon cancer, and lung cancer—behave in ways that subvert the normal mechanisms of cell death, according to a cell-culture study by researchers from Huntsman Cancer Institute (HCI) at the University of Utah.

20 Dec 2013

Researchers discover way to identify artemisinin-resistant malaria

An international team of researchers has discovered a way to identify, at a molecular level, malaria-causing Plasmodium falciparum parasites that are resistant to artemisinin, the key drug for treating this disease.

20 Dec 2013

Experimental drug inhibits BTK molecule in patients with chronic lymphocytic leukemia

A new study led by researchers at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC - James) helps confirm that a molecule targeted by the experimental drug ibrutinib is critical for the development of chronic lymphocytic leukemia, the most common form of adult leukemia.

20 Dec 2013

IQWiG reassesses vemurafenib for treatment of advanced melanoma

Pursuant to the Act on the Reform of the Market for Medicinal Products (AMNOG), the German Institute for Quality and Efficiency in Health Care (IQWiG) reassessed vemurafenib (trade name: Zelboraf), a drug for the treatment of adults with a certain type of advanced melanoma.

20 Dec 2013

Researchers develop diagnostic nanomachine to screen diseases that have genetic basis

As part of an international research project, a team of researchers has developed a DNA clamp that can detect mutations at the DNA level with greater efficiency than methods currently in use. Their work could facilitate rapid screening of those diseases that have a genetic basis, such as cancer, and provide new tools for more advanced nanotechnology. The results of this research is published this month in the journal ACS Nano.

20 Dec 2013

BeiGene doses first patient in Phase 1 study of BGB-283

BeiGene (Beijing), Co., Ltd., today announced dose administration for the first patient in a Phase 1 study of BGB-283 in patients with B-RAF or K-RAS mutations. BGB-283 is an investigational, oral, selective, potent second generation inhibitor of B-RAF, making it a targeted therapeutic candidate to potentially treat and bring benefit to patients with cancers that harbor BRAF mutations and/or aberrations in the RAS-MAPK (mitogen-activated protein kinase) pathway.

20 Dec 2013

Researchers receive Doris Duke Foundation award to predict sickle cell crisis, monitor treatments

Researchers at Case Western Reserve University have received a $486,000 Doris Duke Foundation award to discover how to predict when sickle cell disease patients will suffer an acute crisis and monitor the effectiveness of treatments.

20 Dec 2013

New RUB project to unravel role of enzyme Parkin in promoting neuronal survival

Cell biologists at the Ruhr-Universit-t Bochum have launched a new project to unravel the role of the enzyme Parkin in promoting neuronal survival. The team of Prof Dr Konstanze F. Winklhofer from the Institute of Physiological Chemistry, Department of Molecular Cell Biology, is looking for new therapeutic options to treat Parkinson's disease. The Michael J. Fox Foundation finances this research project with 125,000 US Dollars.

18 Dec 2013

Researchers discover series of compounds possessing anti-HIV activity

University of Minnesota researchers have discovered a first-of-its-kind series of compounds possessing anti-human immunodeficiency virus (HIV) activity. The compounds present a new target for potential HIV drug development and future treatment options.

18 Dec 2013

Mutation News and Research

EMA accepts Otsuka's marketing authorisation application for tolvaptan for treatment of ADPKD

Researchers complete genomic analysis of cervical cancer in two patient populations

Fluidigm announces universal sample prep workflow for single-cell DNA sequencing

Changes to LZTR1 gene predispose people to develop schwannomas

Genetic screening identifies genes driving resistance with guide RNA library

European Commission approves update of Erbitux to treat patients with RAS wild-type mCRC

Small molecule nonsense suppression strategy for aniridia-associated defects

Scientists develop new potential cure for rare eye disease

Patients with Loeys-Dietz syndrome at increased risk for aortic aneurysm

Six common diseases arise from DNA changes, finds new research

Neuroscience researchers discover gene that controls response to cocaine

Study reveals that K-Ras gene mutations behave in ways that subvert normal mechanisms of cell death

Researchers discover way to identify artemisinin-resistant malaria

Experimental drug inhibits BTK molecule in patients with chronic lymphocytic leukemia

IQWiG reassesses vemurafenib for treatment of advanced melanoma

Researchers develop diagnostic nanomachine to screen diseases that have genetic basis

BeiGene doses first patient in Phase 1 study of BGB-283

Researchers receive Doris Duke Foundation award to predict sickle cell crisis, monitor treatments

New RUB project to unravel role of enzyme Parkin in promoting neuronal survival

Researchers discover series of compounds possessing anti-HIV activity

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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