Mutation News and Research

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New genetic mutation appears to protect people from Type 2 diabetes

An international team of scientists led by a Cedars-Sinai researcher has identified a new genetic mutation that appears to protect people from developing Type 2 diabetes.

29 Apr 2015

UC Davis researchers settle long-standing controversy surrounding Canavan disease

UC Davis investigators have settled a long-standing controversy surrounding the molecular basis of an inherited disorder that historically affected Ashkenazi Jews from Eastern Europe but now also arises in other populations of Semitic descent, particularly families from Saudi Arabia.

28 Apr 2015

WCH researchers identify new breast cancer gene

A new breast cancer gene has been identified in a study led by Women's College Hospital researcher Dr. Mohammad Akbari, who is also an assistant professor with the Dalla Lana School of Public Health at the University of Toronto.

28 Apr 2015

Yale researchers successfully correct gene mutation that causes cystic fibrosis

Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder. The study was published April 27 in Nature Communications.

28 Apr 2015

Researchers identify potential treatment target for fragile X carriers

Fragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms.

25 Apr 2015

New method could help scientists spot source of disease-causing mutations in enhancers

A new technique that identifies how genes are controlled could help scientists spot errors in the genetic code which trigger disease, a study suggests.

25 Apr 2015

Penn researchers find molecular bond between DNA damage, cellular senescence and premature aging

Like a beloved pair of jeans, human DNA accumulates damage over time, and older people's bodies can't repair it as well. Many scientists believe a build up of damage can cause cells to enter an irreversible dormant state known as senescence. Cellular senescence is believed to be responsible for some of the telltale signs of aging, such as weakened bones, less resilient skin and slow-downs in organ function.

24 Apr 2015

Scientists identify possible new genes that could change benign skin growths into fatal melanomas

A Houston Methodist-led team of international scientists has identified hundreds of possible new genes in mice that could transform benign skin growths into deadly melanomas.

24 Apr 2015

Exome sequencing helps identify link between environmental exposures and mutational patterns in HCC

A new study presented today at The International Liver Congress 2015 shows that by using genomic analyses to understand how and when carcinogenic mutations occur in patients with hepatocellular carcinoma (HCC), it is possible to identify specific molecular profiles. It is hoped that these molecular profiles will help identify which patients would benefit from specific anticancer treatments.

23 Apr 2015

Scientists find genetic link between autism and prodigy

Researchers have uncovered the first evidence of a genetic link between prodigy and autism. The scientists found that child prodigies in their sample share some of the same genetic variations with people who have autism.

23 Apr 2015

Purdue University study sheds light on how decitabine drug reverses cell damage

A Purdue University study sheds light on how cell damage is reversed by the cancer drug decitabine and identifies a potential biomarker that could indicate a patient's stage of cancer and response to treatment.

23 Apr 2015

IMIM researchers identify new way of treating colorectal cancer

Researchers at the Institut Hospital del Mar d'Investigacions Mèdiques (IMIM) have identified a new way of treating colorectal cancer. In the study published in the journal Science Signaling, the team led by LLuís Espinosa, investigator of IMIM's research group into stem cells and cancer, have shown that inhibition of endosomal activity is a potential therapeutic strategy for the treatment of cancers with the BRAF mutated gene.

23 Apr 2015

Sysmex Inostics to offer OncoBEAM CLIA laboratory services in Germany, Austria and Switzerland

Sysmex Inostics, a subsidiary of Sysmex Corporation, today announced that they have signed an exclusive distributor agreement with IndivuTest GmbH, and its parent company Indivumed GmbH, a cancer research company focused on the development of individualized cancer diagnostics and therapies.

From Sysmex America, Inc. 22 Apr 2015

Gene therapy reduces infectious complications in children, teens with Wiskott-Aldrich syndrome

In a small study that included seven children and teens with Wiskott-Aldrich syndrome, a rare immunodeficiency disorder, use of gene therapy resulted in clinical improvement in infectious complications, severe eczema, and symptoms of autoimmunity, according to a study in the April 21 issue of JAMA, a theme issue on child health.

22 Apr 2015

Scientists identify protein that could help tame severe inflammation

Researchers have identified a protein that offers a new focus for developing targeted therapies to tame the severe inflammation associated with multiple sclerosis (MS), colitis and other autoimmune disorders.

22 Apr 2015

UVA research identifies new role of immune system in Rett syndrome

The immune system is designed to protect us from disease. But what if it was malfunctioning? Would it make a disease worse? That appears to be the case with Rett syndrome, a neurodevelopmental disorder, and possibly in other neurological disorders as well, new research from the University of Virginia School of Medicine has found.

22 Apr 2015

Men with prostate cancer benefit from BRCA-targeting drug

Men with prostate cancer benefit from treatment with the pioneering drug olaparib - the first cancer drug to target inherited mutations - according to the results of a major trial presented today (Tuesday).

22 Apr 2015

Novel genetic datashare initiative launched to improve detection of inherited breast and ovarian cancers

Quest Diagnostics, the world’s leading provider of diagnostic information services, and Inserm, the French National Institute of Health and Medical Research institution, today launched BRCA Share, a novel datashare initiative they co-founded to provide scientists and laboratory organizations around the world with open access to BRCA1 and BRCA2 genetic data.

From Quest Diagnostics 22 Apr 2015

Data presented at AACR 2015 recognizes value of EKF PointMan technology for assessing lung cancer mutation status

The PointMan EGFR DNA enrichment kit, a novel method for selective amplification of genotype specific sequences.

From EKF Diagnostics 21 Apr 2015

New clinical utility data for Guardant360 platform to be presented at 2015 AACR Annual Meeting

Guardant Health today announced new clinical utility data for its Guardant360 platform, which will be presented at the 2015 American Association for Cancer Research (AACR) Annual Meeting in Philadelphia.

21 Apr 2015

Mutation News and Research

New genetic mutation appears to protect people from Type 2 diabetes

UC Davis researchers settle long-standing controversy surrounding Canavan disease

WCH researchers identify new breast cancer gene

Yale researchers successfully correct gene mutation that causes cystic fibrosis

Researchers identify potential treatment target for fragile X carriers

New method could help scientists spot source of disease-causing mutations in enhancers

Penn researchers find molecular bond between DNA damage, cellular senescence and premature aging

Scientists identify possible new genes that could change benign skin growths into fatal melanomas

Exome sequencing helps identify link between environmental exposures and mutational patterns in HCC

Scientists find genetic link between autism and prodigy

Purdue University study sheds light on how decitabine drug reverses cell damage

IMIM researchers identify new way of treating colorectal cancer

Sysmex Inostics to offer OncoBEAM CLIA laboratory services in Germany, Austria and Switzerland

Gene therapy reduces infectious complications in children, teens with Wiskott-Aldrich syndrome

Scientists identify protein that could help tame severe inflammation

UVA research identifies new role of immune system in Rett syndrome

Men with prostate cancer benefit from BRCA-targeting drug

Novel genetic datashare initiative launched to improve detection of inherited breast and ovarian cancers

Data presented at AACR 2015 recognizes value of EKF PointMan technology for assessing lung cancer mutation status

New clinical utility data for Guardant360 platform to be presented at 2015 AACR Annual Meeting

Industry Focus eBook - Forensics & toxicology (2nd edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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