Mutation News and Research

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Findings to help researchers study causes of congenital heart disease in future

Findings from the first large-scale sequencing analysis of congenital heart disease bring us closer to understanding this most common type of birth defect. The analysis found that spontaneous, or de novo, mutations affect a specific biological pathway that is critical to aspects of human development, including the brain and heart.

13 May 2013

Disease-in-a-dish models show promise for treating ataxia telangiectasia

Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia.

13 May 2013

Researchers identify clue to explain the reversible memory loss caused by statins

The U.S. Food and Drug Administration and physicians continue to document that some patients experience fuzzy thinking and memory loss while taking statins, a class of global top-selling cholesterol-lowering drugs.

13 May 2013

New diagnostic test could help health officials monitor, prevent spread of H7N9 virus

Breaking research appearing online today in Clinical Chemistry, the journal of AACC, demonstrates that a recently developed diagnostic test can detect the new strain of influenza (H7N9) currently causing an outbreak in China.

13 May 2013

Study results suggest that CNL and aCML patients could be treated with FDA-approved drugs

Patients with two forms of leukemia, who currently have no viable treatment options, may benefit from existing drugs developed for different types of cancer, according to a study conducted by researchers at the Knight Cancer Institute at Oregon Health & Science University.

13 May 2013

Study: Rb plays critical role in maintaining starvation-induced transcriptome

A particular tumor suppressor gene that fights cancer cells does more than clamp down on unabated cell division -- the hallmark of the disease -- it also can help make cells more fit by allowing them to fend off stress, says a University of Colorado Boulder study.

13 May 2013

Inherited mutations in p53 gene put people at high risk of developing cancers

The understanding of how a powerful protein called p53 protects against cancer development has been upended by a discovery by Walter and Eliza Hall Institute researchers. More than half of human cancers carry defects in the gene for p53, and almost all other cancers, with a normal p53 gene, carry other defects that somehow impair the function of the p53 protein. Inherited mutations in the p53 gene put people at a very high risk of developing a range of cancers.

10 May 2013

Scientists identify new way to boost gene-silencing mechanism

A team led by scientists at The Scripps Research Institute (TSRI) has found how to boost or inhibit a gene-silencing mechanism that normally serves as a major controller of cells' activities. The discovery could lead to a powerful new class of drugs against viral infections, cancers and other diseases.

10 May 2013

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.

10 May 2013

Researchers reveal how genes are turned on and off during early human development

A large, multi-institutional research team involved in the NIH Epigenome Roadmap Project has published a sweeping analysis in the current issue of the journal Cell of how genes are turned on and off to direct early human development.

10 May 2013

Research opens door to new drug therapies for Parkinson's disease

McGill University researchers have unlocked a new door to developing drugs to slow the progression of Parkinson's disease. Collaborating teams led by Dr. Edward A. Fon at the Montreal Neurological Institute and Hospital -The Neuro, and Dr. Kalle Gehring in the Department of Biochemistry at the Faculty of Medicine, have discovered the three-dimensional structure of the protein Parkin.

10 May 2013

Drug resistant brain tumors: an interview with Prof. Mischel, Ludwig Institute for Cancer Research and Prof. Bensinger, University of California

In cancer, mutations in proteins that control cell growth are common, leading to unrestrained cellular proliferation and tumor formation.

9 May 2013

UA researchers discover genetic mutations that cause severe epilepsies in children

Researchers at the University of Arizona have successfully determined the genetic mutations causing severe epilepsies in seven out of 10 children for whom the cause of the disorder could not be determined clinically or by conventional genetic testing.

9 May 2013

Researchers identify genetic mutations that appear to underlie rare syndrome

Researchers from Massachusetts General Hospital and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia - a lack of muscle coordination - and dementia.

9 May 2013

TRACK-HD study: A set of tests could help identify progression of Huntington's disease

Scientists have identified a set of tests that could help identify whether and how Huntington's disease is progressing in groups of people who are not yet showing symptoms.

9 May 2013

Seven-year quest to understand how breast cancer cells resist treatment

A seven-year quest to understand how breast cancer cells resist treatment with the targeted therapy lapatinib has revealed a previously unknown molecular network that regulates cell death.

8 May 2013

Good Start Genetics gets $28M loan from Capital Royalty

Good Start Genetics, Inc., an innovative molecular diagnostics company that has developed the new gold standard in carrier screening, today announced that it has closed a non-dilutive loan facility for up to $28 million of capital from Capital Royalty L.P.

8 May 2013

IDIBELL signs patent licensing agreement with Minoryx

The Bellvittge Biomedical Research Institute has signed a licensing agreement with the Spanish biotechnology company Minoryx of a patent for the treatment of X-linked adrenoleukodystrophy, a rare serious neurodegenerative disease which has no effective treatment.

8 May 2013

Research discovery may lead to effective new treatments for neurodegenerative disease

UCLA researchers led by Drs. Peiyee Lee and Richard Gatti at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells to advance disease-in-a-dish modeling of a rare genetic disorder, Ataxia Telangiectasia.

8 May 2013

Clinical data of cabozantinib to be presented at ASCO meeting

Exelixis, Inc. announced today that cabozantinib will be the subject of nine separate data presentations at the upcoming 2013 Annual Meeting of the American Society of Clinical Oncology.

8 May 2013

Mutation News and Research

Findings to help researchers study causes of congenital heart disease in future

Disease-in-a-dish models show promise for treating ataxia telangiectasia

Researchers identify clue to explain the reversible memory loss caused by statins

New diagnostic test could help health officials monitor, prevent spread of H7N9 virus

Study results suggest that CNL and aCML patients could be treated with FDA-approved drugs

Study: Rb plays critical role in maintaining starvation-induced transcriptome

Inherited mutations in p53 gene put people at high risk of developing cancers

Scientists identify new way to boost gene-silencing mechanism

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

Researchers reveal how genes are turned on and off during early human development

Research opens door to new drug therapies for Parkinson's disease

Drug resistant brain tumors: an interview with Prof. Mischel, Ludwig Institute for Cancer Research and Prof. Bensinger, University of California

UA researchers discover genetic mutations that cause severe epilepsies in children

Researchers identify genetic mutations that appear to underlie rare syndrome

TRACK-HD study: A set of tests could help identify progression of Huntington's disease

Seven-year quest to understand how breast cancer cells resist treatment

Good Start Genetics gets $28M loan from Capital Royalty

IDIBELL signs patent licensing agreement with Minoryx

Research discovery may lead to effective new treatments for neurodegenerative disease

Clinical data of cabozantinib to be presented at ASCO meeting

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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