Mutation News and Research

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Scientists study interaction between Notch signaling pathway and BCL6 gene to understand how cancer forms

A Florida State University College of Medicine researcher has discovered a new interaction between a cell signaling system and a specific gene that may be the cause of B-cell lymphoma. The finding suggests a similar interaction could be occurring during the development of other types of cancer, leading to further understanding of how cancer works — and how it might be stopped.

28 May 2010

UT Southwestern researchers create 35 new rat "lines" with mutations in specific genes

For two decades, the laboratory mouse has been the workhorse of biomedical studies and the only mammal whose genes scientists could effectively and reliably manipulate to study human diseases and conditions.

28 May 2010

Women with recurrent miscarriages can have successful pregnancy with supportive care

For women who have multiple miscarriages, the pain of repeated loss is often compounded by another reality. The causes behind miscarriage are complex and often difficult to identify, and even those conditions and associations proposed as causes are poorly understood.

28 May 2010

OHSU partners with UO, Harvard to expedite research into compounds that may prevent Fanconi anemia

Oregon Health & Science University is partnering with the University of Oregon and Harvard Medical School to expedite basic science research into new and existing drugs and compounds that may prevent the complications associated with Fanconi anemia, an inherited condition that can lead to bone marrow failure and cancer.

28 May 2010

Genentech uses Complete Genomics' sequencing service to compare primary lung tumor, adjacent normal tissue

Complete Genomics Inc., a third-generation human genome sequencing company, today announced that Genentech Inc., a wholly owned member of the Roche Group, used the company's sequencing, bioinformatics and analytics services to sequence and compare a patient's primary lung tumor and adjacent normal tissue.

27 May 2010

Researchers discover genetic variant that raises risk of CHD

Although congenital heart disease represents the most common major birth defect, scientists have not previously identified the common variation in the genes that give rise to it. Now genetics and cardiology researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease.

27 May 2010

New study holds promise for patients with LCA

A new study led by Dr. Robert Koenekoop at the Montreal Children's Hospital at the McGill University Health Centre holds promise for certain patients with Leber congenital amaurosis, an inherited retinal degenerative disease that causes significant vision loss from birth. The study, sponsored by Canadian company QLT Inc., is designed to treat patients with LCA due to genetic mutations in either retinal pigment epithelium protein 65 or lecithin:retinol acyltransferase.

27 May 2010

Researchers discover gene mutations in autistic, mentally impaired patients

Researchers working with Professor Gudrun Rappold, Director of the Department of Molecular Human Genetics at Heidelberg University Hospital, have discovered previously unknown mutations in autistic and mentally impaired patients in what is known as the SHANK2 gene, a gene that is partially responsible for linking nerve cells.

26 May 2010

Researchers describe carcinogenic effects of EDCs

Longtime environmental health researchers at Tufts University School of Medicine describe the carcinogenic effects of endocrine-disrupting chemicals, ubiquitous chemicals that have hormone-like effects in the body. In a review article published online May 25 in Nature Reviews Endocrinology, the researchers express the need for more complex strategies for studying how these chemicals affect health but report that ample evidence already supports changing public health and environmental policies to protect the public from exposure to EDCs.

26 May 2010

Defect in cellular pathways provides new explanation for earliest stages of craniosynostosis in newborns

University of Rochester Medical Center scientists discovered a defect in cellular pathways that provides a new explanation for the earliest stages of abnormal skull development in newborns, known as craniosynostosis.

26 May 2010

Lumizyme receives FDA approval for patients with late-onset Pompe disease

The U.S. Food and Drug Administration approved Lumizyme (alglucosidase alfa) for patients ages 8 years and older with late-onset (non-infantile) Pompe disease, a rare genetic disorder.

26 May 2010

Clovis Oncology, Avila Therapeutics announce development agreement for NSCLC EMSI program

Clovis Oncology, Inc., a biopharmaceutical company focused on acquiring, developing and commercializing innovative anti-cancer agents, and Avila Therapeutics, Inc., a biotechnology company designing targeted covalent drugs, announced today an agreement for the development and commercialization of Avila's epidermal growth factor receptor (EGFR) mutant-selective inhibitor (EMSI) program, currently in pre-clinical development for the treatment of non-small cell lung cancer (NSCLC).

25 May 2010

Researchers use zebrafish as model to analyze function of every known mutation in BBS

A research team led by scientists from the Duke University Medical Center has developed a way to simultaneously look at the effects of 125 mutations occurring on 14 different genes. They used zebrafish as a model to analyze the function of every known mutation in an inherited syndrome called BBS, Bardet-Biedl Syndrome.

25 May 2010

New research finding may change direction of vaccine research for M. tuberculosis

Scientists at NYU Langone Medical Center have discovered that the strategy of "immune evasion" common to many viruses, bacteria and parasites, is uncommon to M. tuberculosis where the antigens remain strikingly unchanged and homogenous. The study published in Nature Genetics on May 23, 2010, suggests that M. tuberculosis antigens do not mutate because they hope to be recognized by the body's immune system- perhaps because the host immune mechanism that leads to the typical lung destruction and cough can contribute to the spread of the disease.

25 May 2010

Joint research by UB and CDC could lead to new generation of antiviral medicines

Future pandemics of seasonal flu, H1N1 and other drug-resistant viruses may be thwarted by a potent, immune-boosting payload that is effectively delivered to cells by gold nanorods, report scientists at the University at Buffalo and the U.S. Centers for Disease Control and Prevention. The work is published in the current issue of the Proceedings of the National Academy of Sciences.

25 May 2010

Positive results from Phase 2 clinical trial for STA-9090 in Stage IIIB and Stage IV patients with NSCLC

Synta Pharmaceuticals Corp. today announced that clinical activity seen in the first stage of its trial for STA-9090 in Stage IIIB and Stage IV patients with non-small cell lung cancer, support advancing to the second stage of the trial. This result was achieved in the first pre-defined patient cohort to complete enrollment.

25 May 2010

Researchers identify mechanisms involved in gene mutation

Genetic variation due to DNA mutation is a driving force of adaptation and evolution, as well as a contributing factor to disease. However, the mechanisms governing DNA mutation rate are not well understood.

25 May 2010

Sangamo's ZFP Therapeutics technology highlighted at ASGCT Annual Meeting

Sangamo BioSciences, Inc. announced today that data from research and preclinical programs focused on the development of zinc finger DNA-binding protein Therapeutics were described in fifteen presentations given by Sangamo scientists and collaborators at the 13th Annual Meeting of the American Society of Gene and Cell Therapy.

24 May 2010

2010 ASCO Annual Meeting highlights new research findings on cancer

Experts from The Cancer Institute at NYU Langone Medical Center will present new research findings at the 46th Annual Meeting of The American Society of Clinical Oncology (ASCO) in Chicago, Illinois.

24 May 2010

Young Faces of ALS campaign to raise awareness on ALS

The ALS Therapy Development Institute announced today that it is supporting a new awareness campaign driven by several ALS patients diagnosed with the progressive neurodegenerative disease commonly known as Lou Gehrig's disease before the age of 30. This campaign, called "Young Faces of ALS," is designed and led by a group of seven young men and women and will consist of a group effort to visit each of the 30 Major League Baseball parks during the 2010 baseball season.

21 May 2010

Mutation News and Research

Scientists study interaction between Notch signaling pathway and BCL6 gene to understand how cancer forms

UT Southwestern researchers create 35 new rat "lines" with mutations in specific genes

Women with recurrent miscarriages can have successful pregnancy with supportive care

OHSU partners with UO, Harvard to expedite research into compounds that may prevent Fanconi anemia

Genentech uses Complete Genomics' sequencing service to compare primary lung tumor, adjacent normal tissue

Researchers discover genetic variant that raises risk of CHD

New study holds promise for patients with LCA

Researchers discover gene mutations in autistic, mentally impaired patients

Researchers describe carcinogenic effects of EDCs

Defect in cellular pathways provides new explanation for earliest stages of craniosynostosis in newborns

Lumizyme receives FDA approval for patients with late-onset Pompe disease

Clovis Oncology, Avila Therapeutics announce development agreement for NSCLC EMSI program

Researchers use zebrafish as model to analyze function of every known mutation in BBS

New research finding may change direction of vaccine research for M. tuberculosis

Joint research by UB and CDC could lead to new generation of antiviral medicines

Positive results from Phase 2 clinical trial for STA-9090 in Stage IIIB and Stage IV patients with NSCLC

Researchers identify mechanisms involved in gene mutation

Sangamo's ZFP Therapeutics technology highlighted at ASGCT Annual Meeting

2010 ASCO Annual Meeting highlights new research findings on cancer

Young Faces of ALS campaign to raise awareness on ALS

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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