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Scientists discover small molecule that can block growth of BRCA-deficient cancer cells

Cancer cells with mutations in BRCA1 or BRCA2 genes, which serve a vital role in preserving the integrity of the genetic code, are key targets for cancer therapeutics. Yet, few agents can selectively eliminate cells deficient in BRCA, and none can do so without the risk of inducing drug resistance.

6 Nov 2015

Genetic reduction of AMPK enzyme can prevent or delay hearing loss

A mitochondrial defect is responsible for a type of human hereditary deafness that worsens over time and can lead to profound hearing loss.

6 Nov 2015

UCSF scientists identify eye drop chemical that may reverse cataracts

A chemical that could potentially be used in eye drops to reverse cataracts, the leading cause of blindness, has been identified by a team of scientists from UC San Francisco (UCSF), the University of Michigan (U-M), and Washington University in St. Louis (WUSTL).

6 Nov 2015

Liquid biopsy provides physicians with up-to-date information about patient's cancer

A team of researchers, including scientists from the Translational Genomics Research Institute, has reported that analyzing circulating tumor DNA (ctDNA) can track how a patient's cancer evolves and responds to treatment.

5 Nov 2015

Perisylvian polymicrogyria gene found

Researchers have identified the genetic basis for bilateral perisylvian polymicrogyria, the most common form of regional polymicrogyria.

4 Nov 2015

Sanford Research scientists develop animal model to study neurodegenerative disease

Sanford Research scientists have developed a pig model for a neurodegenerative disease that could help better treat the disorder and other physiological conditions. The findings of the project are published in Human Molecular Genetics.

4 Nov 2015

Study evaluates effectiveness of antiretroviral treatment in HIV-infected children

A study led by Louise Kuhn, PhD, professor of Epidemiology at Columbia University's Mailman School of Public Health, evaluated whether HIV-infected children in South Africa who had achieved viral suppression with one antiretroviral treatment could transition to efavirenz-based therapy, the recommended drug for children older than 3 years, without risk of viral failure.

4 Nov 2015

Scientists propose that Alzheimer's disease should be treated separately

Deciphering the mechanism that underlies the development of Alzheimer's disease in certain families but not in others, researchers at the Hebrew University of Jerusalem's Faculty of Medicine have proposed that the malady is actually a collection of diseases that probably should be treated with a variety of different approaches.

4 Nov 2015

UCSD researchers suggest that cancer-related mutations common in patients with low blood counts

Patients with unexplained low blood counts and abnormally mutated cells who do not fit the diagnostic criteria for recognized blood cancers should be described as having clonal cytopenias of undetermined significance (CCUS), suggest University of California, San Diego School of Medicine researchers in a recent paper published in the journal Blood.

4 Nov 2015

Alnylam presents positive ongoing phase 2 open-label extension data for Patisiran and Revusiran

Alnylam Pharmaceuticals, Inc. has announced new results from its ongoing Phase 2 open-label extension (OLE) studies with patisiran and revusiran, investigational RNAi therapeutics targeting transthyretin (TTR) for the treatment of TTR-mediated amyloidosis (ATTR amyloidosis).

3 Nov 2015

Salk scientists uncover enzyme responsible for suppressing deadly lung cancer

Scientists at the Salk Institute have uncovered a molecule whose mutation leads to the aggressive growth of a common and deadly type of lung cancer in humans.

3 Nov 2015

Researchers identify tumor suppressor genes that drive subset of melanomas

Of the hundreds of genes that can be mutated in a single case of melanoma, only a handful may be true "drivers" of cancer. In research that appeared today in Nature Genetics, a Weizmann Institute of Science team has now revealed one of the drivers of a particularly deadly subset of melanomas - one that is still seeing a rise in new cases. This gene is a newly identified member of a group of genes called tumor suppressor genes.

3 Nov 2015

Cancer DNA in patient's bloodstream could help deliver personalized treatment for liver cancer

Fragments of cancer DNA circulating in a patient's bloodstream could help doctors deliver more personalized treatment for liver cancer, Japanese researchers report.

2 Nov 2015

Findings provide a step towards personalized cancer therapy

Oxford University researchers have found the Achilles heel of certain cancer cells - mutations in a gene called SETD2. Their findings will be presented to the National Cancer Research Institute conference in Liverpool this Monday (2 Nov 15).

2 Nov 2015

New method helps study chaotic genomes of cancer cells more precisely than ever before

Scientists of the Luxembourg Centre for Systems Biomedicine of the University of Luxembourg have developed a method for analysing the genome of cancer cells more precisely than ever before.

31 Oct 2015

Resistance to CD19 CAR T-cell therapy can be caused by CD19 splicing alterations

Resistance to CD19 CAR T-cell therapy, a type of immunotherapy that yields long-lasting remissions in many patients with B-cell leukemia, can be caused by CD19 splicing alterations, leading to loss of certain parts of the CD19 protein that are recognized by the CAR T cells.

31 Oct 2015

Scientists look through evolutionary lens to gain clearer picture of health, disease

To gain a clearer picture of health and disease, scientists have now provided an independent reference for all human variation by looking through the evolutionary lens of our nearest relatives.

31 Oct 2015

Blocking calcium-signaling pathway could inhibit Ebola virus and other sources of deadly infections

The Ebola virus acts fast. The course of infection, from exposure to recovery, or death, can take as little as two weeks. That may not leave enough time for the immune system to mount an effective response.

31 Oct 2015

RNA profiles of tumor-educated platelets may diagnose cancer, identify potential therapeutic approaches

Analysis of tumor RNA carried in platelets - blood components best known for their role in clotting - may prove to be more useful than other "liquid biopsy" technologies for diagnosing cancer and determining its primary location and potential therapeutic approaches.

31 Oct 2015

Scientists identify new jelly-like properties of essential proteins that lead to serious diseases

Scientists at the University of Cambridge have identified a new property of essential proteins which, when it malfunctions, can cause the build up, or 'aggregation', of misshaped proteins and lead to serious diseases.

31 Oct 2015

Mutation News and Research

Scientists discover small molecule that can block growth of BRCA-deficient cancer cells

Genetic reduction of AMPK enzyme can prevent or delay hearing loss

UCSF scientists identify eye drop chemical that may reverse cataracts

Liquid biopsy provides physicians with up-to-date information about patient's cancer

Perisylvian polymicrogyria gene found

Sanford Research scientists develop animal model to study neurodegenerative disease

Study evaluates effectiveness of antiretroviral treatment in HIV-infected children

Scientists propose that Alzheimer's disease should be treated separately

UCSD researchers suggest that cancer-related mutations common in patients with low blood counts

Alnylam presents positive ongoing phase 2 open-label extension data for Patisiran and Revusiran

Salk scientists uncover enzyme responsible for suppressing deadly lung cancer

Researchers identify tumor suppressor genes that drive subset of melanomas

Cancer DNA in patient's bloodstream could help deliver personalized treatment for liver cancer

Findings provide a step towards personalized cancer therapy

New method helps study chaotic genomes of cancer cells more precisely than ever before

Resistance to CD19 CAR T-cell therapy can be caused by CD19 splicing alterations

Scientists look through evolutionary lens to gain clearer picture of health, disease

Blocking calcium-signaling pathway could inhibit Ebola virus and other sources of deadly infections

RNA profiles of tumor-educated platelets may diagnose cancer, identify potential therapeutic approaches

Scientists identify new jelly-like properties of essential proteins that lead to serious diseases

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