Mutation News and Research

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SMPX gene mutation causes hereditary hearing impairment

Excessive noise is not the only thing that causes damage to hearing. In many cases, genetic factors are responsible for the loss of hearing at a young age. Researchers at the Max Planck Institute for Molecular Genetics in Berlin together with colleagues from Nijmegen have discovered a previously unknown genetic cause of progressive hearing impairment: the disease is caused by mutations of the SMPX gene, which is located on the X chromosome.

1 Jun 2011

Suberoylanilide hydroxamic acid holds promise against familial frontotemporal dementia

A drug already approved for people with cancer shows early potential as a therapy for a common form of dementia, UT Southwestern Medical Center researchers report.

1 Jun 2011

Research: Gene mutation causes eye disease glaucoma

It is a mutation in a gene that causes the eye disease glaucoma, according to collaborative research conducted by Swedish, Tunisian, and American researchers. The findings were recently published in the journal Nature Genetics.

31 May 2011

Study finds novel site within MS4A gene cluster, confirms presence of SNP linked with Alzheimer's

Recently the number of genes known to be associated with Alzheimer's disease has increased from four to eight, including the MS4A gene cluster on chromosome 11.

31 May 2011

Pre-implantation genetic diagnosis can avoid mother to child transmission of mtDNA disorders

Dutch researchers have developed a test which predicts which mothers at risk of passing on mitochondrial genetic disease to their children are likely to have a healthy baby.

30 May 2011

New insights into pathogenesis and treatment of hereditary breast, ovarian cancer

5% to 10% of all breast cancers are monogenic in origin. In other words, there is a mutation of the genes BRCA1, BRCA2 or other high-risk genes. In this edition of Deutsches Ärzteblatt International, Alfons Meindl of the Klinikum rechts der Isar and coauthors report on new insights into the pathogenesis and treatment of hereditary breast and ovarian cancer and newly-discovered risk genes.

30 May 2011

Karolinska researchers study four siblings affected by early-onset Alzheimer's disease

Four siblings in a family affected by early-onset Alzheimer's have been studied by a group of researchers at Karolinska Institutet in Sweden. This has been a unique opportunity to make comparative studies and to monitor the development of the disease over a prolonged period of time.

27 May 2011

Transgenomic secures exclusive license from Montefiore for cancer predictive markers

Transgenomic, Inc. announced today that it has acquired an exclusive worldwide license to Montefiore Medical Center's patent application, "Method of Determining the Sensitivity of Cancer Cells to EGFR Inhibitors including cetuximab, panitumumab and erlotinib".

27 May 2011

BioDiscovery, Affymetrix enter co-marketing agreement for OncoScan FFPE Express Service

Affymetrix, Inc. today announced a co-marketing agreement naming BioDiscovery, Inc. its preferred software provider for Affymetrix OncoScan FFPE Express Service data analysis.

27 May 2011

Boehringer Ingelheim's new afatinib-cetuximab phase Ib data in NSCLC presented at ASCO 2011

Boehringer Ingelheim Pharmaceuticals, Inc. will present new phase Ib data at the 2011 American Society of Clinical Oncology annual meeting in Chicago that indicates combining its investigational therapy afatinib with cetuximab at the maximum tested dose controlled disease in all (n=22) treated epidermal growth factor receptor (EGFR)-mutation positive patients with non-small cell lung cancer who developed acquired resistance to treatment with a reversible EGFR tyrosine kinase inhibitor.

26 May 2011

Researchers devise new genetic technique for IVF embryos

Researchers at the Johns Hopkins University School of Medicine have devised a new technique, which helps couples that are affected by or are carriers of genetic diseases have in vitro fertilized babies free of both the disease in question and other chromosomal abnormalities. The results were reported in the April issue of Fertility and Sterility.

24 May 2011

Scientists mimic dyskeratosis congenita through study of undifferentiated iPS cells

A rare genetic disease called dyskeratosis congenita, caused by the rapid shortening of telomeres, can be mimicked through the study of undifferentiated induced pluripotent stem cells, according to new findings from the Stanford University School of Medicine.

24 May 2011

Variant of obesity gene may increase breast cancer risk

New research aimed to better identify the genetic factors that lead to breast cancer has uncovered a link between the fat mass and obesity associated gene and a higher incidence of breast cancer.

24 May 2011

Scientists discover genetic regions that affect severity of cystic fibrosis

A team of international researchers, including Case Western Reserve University School of Medicine, have discovered regions of the genome that affect the severity of the genetic disease cystic fibrosis, the most common lethal genetic disease affecting children in North America.

24 May 2011

Journal of Clinical Oncology publishes Exelixis' cabozantinib phase 1 trial results in lymphoma

Exelixis, Inc. today announced the results of the phase 1 clinical trial of cabozantinib in patients with advanced solid tumors or lymphoma have been published in the current issue of the Journal of Clinical Oncology.

24 May 2011

New genetic testing technology for IVG embryos

23 May 2011

Practical solutions for translational science from Randox Laboratories

The sole purpose of translational science is to transfer scientific discoveries made in ‘basic research’ to clinical reality, to improve the health of individuals and reduce suffering.

From Randox Laboratories Ltd. 23 May 2011

Scientists find new drug target in breast cancer

Researchers have identified a new protein involved in the development of drug resistance in breast cancer which could be a target for new treatments, they report today in the journal Nature Medicine.

23 May 2011

Sangamo announces presentations of ZFP Therapeutics data at ASGCT 2011

Sangamo BioSciences, Inc. announced today that data from clinical, preclinical and research-stage programs focused on the development of zinc finger DNA-binding protein Therapeutics were described in twenty presentations given by Sangamo scientists and collaborators at the 14th Annual Meeting of the American Society of Gene and Cell Therapy.

23 May 2011

New insights into bone diseases

A study by researchers at Children's Hospital Boston and collaborators at other institutions has provided new insights into the means by which bone cells produce new bone in response to mechanical stresses, such as exercise.

23 May 2011

Mutation News and Research

SMPX gene mutation causes hereditary hearing impairment

Suberoylanilide hydroxamic acid holds promise against familial frontotemporal dementia

Research: Gene mutation causes eye disease glaucoma

Study finds novel site within MS4A gene cluster, confirms presence of SNP linked with Alzheimer's

Pre-implantation genetic diagnosis can avoid mother to child transmission of mtDNA disorders

New insights into pathogenesis and treatment of hereditary breast, ovarian cancer

Karolinska researchers study four siblings affected by early-onset Alzheimer's disease

Transgenomic secures exclusive license from Montefiore for cancer predictive markers

BioDiscovery, Affymetrix enter co-marketing agreement for OncoScan FFPE Express Service

Boehringer Ingelheim's new afatinib-cetuximab phase Ib data in NSCLC presented at ASCO 2011

Researchers devise new genetic technique for IVF embryos

Scientists mimic dyskeratosis congenita through study of undifferentiated iPS cells

Variant of obesity gene may increase breast cancer risk

Scientists discover genetic regions that affect severity of cystic fibrosis

Journal of Clinical Oncology publishes Exelixis' cabozantinib phase 1 trial results in lymphoma

New genetic testing technology for IVG embryos

Practical solutions for translational science from Randox Laboratories

Scientists find new drug target in breast cancer

Sangamo announces presentations of ZFP Therapeutics data at ASGCT 2011

New insights into bone diseases

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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