Mutation News and Research

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Study reveals why older people are at higher risk for developing cancer

Why are older people at higher risk for developing cancer? Prevailing opinion holds that, over time, your body's cells accumulate DNA damage and that eventually this damage catches up with the body in a way that causes cancer.

23 Dec 2014

Offspring of mice treated with drug had delayed onset, reduced symptoms of Huntington's disease

Famine, drug abuse and even stress can "silence" certain genes, causing health problems in generations to come. Now scientists are wondering—could therapies that change gene expression in parents help their children?

23 Dec 2014

Different gene mutations lead to different features of ASD

People with autism have a wide range of symptoms, with no two people sharing the exact type and severity of behaviors.

23 Dec 2014

Researchers identify new genetic anomalies in smoking-related lung cancers

Developing effective treatments for lung cancer has been challenging, in part because so many genetic mutations play a role in the disease.

22 Dec 2014

Chromosome X microduplications implicated in infancy-onset gigantism

Researchers report that heritable microduplications on chromosome Xq26.3 may underlie a “striking” form of gigantism with onset in late infancy, and reveal a candidate culprit gene.

22 Dec 2014

Progression to combined pituitary hormone deficiency common in IGHD

Researchers have found that a high proportion of children initially diagnosed with isolated growth hormone deficiency will progress to combined pituitary hormone deficiency.

22 Dec 2014

New computational technique reveals genetic roots of autism, cancers

In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease?

22 Dec 2014

Ganciclovir drug resistance may occur more frequently in cystic fibrosis patients

A drug called ganciclovir is given to lung transplant patients to protect against a life-threatening virus that is common after transplantation.

22 Dec 2014

FDA approves Myriad’s BRACAnalysis CDx for use with ovarian cancer drug

Myriad Genetics, Inc. today announced that it has received approval from the U.S. Food and Drug Administration (FDA) for BRACAnalysis CDx to be used as the only companion diagnostic in conjunction with AstraZeneca’s drug Lynparza™ (olaparib).

22 Dec 2014

Scientists discover genetic pathway responsible for brain development

Scientists at A*STAR's Institute of Medical Biology and Institute of Molecular and Cellular Biology have identified a genetic pathway that accounts for the extraordinary size of the human brain.

19 Dec 2014

Study: Inactivating polymorphism may influence progression of ovarian and luminal breast cancer

A common polymorphism - a variation in a person's DNA sequence that is found with regularity in the general population - can lead to a chain of events that dictates how a tumor will progress in certain types of cancer, including a form of breast cancer as well as ovarian cancer, according to new research from The Wistar Institute that was published online by the journal Cancer Cell.

19 Dec 2014

New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

Some of the genetic diseases that can cause autism spectrum disorder (ASD) and intellectual disability (ID) are so rare that even physicians who specialize in treating them can't be certain they have seen every possible symptom.

19 Dec 2014

Gene variations predispose mestizo Mexican population to develop severe form of COPD

A study by Ramcés Falfán-Valencia, researcher at the National Institute of Respiratory Diseases, found that the mestizo Mexican population has a number of variations in certain genes that predispose them to develop the most severe form of chronic obstructive pulmonary disease (COPD).

19 Dec 2014

SLU investigators find promising candidates for new herpes virus treatments

Saint Louis University research findings published in the December issue of Antimicrobial Agents and Chemotherapy report a family of molecules known as nucleotidyltransferase superfamily (NTS) enzyme inhibitors are promising candidates for new herpes virus treatments.

19 Dec 2014

Study reveals why older people are at increased risk for developing cancer

19 Dec 2014

Endogenous retroviruses also play critical role in the body's immune defense against pathogens

Retroviruses are best known for causing contagious scourges such as AIDS, or more sporadically, cancer.

19 Dec 2014

Single biopsy site may reveal all lung adenocarcinoma genetic mutations

Genetic sequencing of a single tumour site sample may be adequate for identifying cancer gene mutations in patients with lung andenocarcinoma, research published in Science suggests.

18 Dec 2014

TUM researchers discover new mechanism for regulating programmed cell death

Programmed cell death is a mechanism that causes defective and potentially harmful cells to destroy themselves. It serves a number of purposes in the body, including the prevention of malignant tumor growth. Now, researchers at Technische Universität München have discovered a previously unknown mechanism for regulating programmed cell death.

18 Dec 2014

CF patients require close monitoring for resistance to ganciclovir after lung transplantation

A drug called ganciclovir is given to lung transplant patients to protect against a life-threatening virus that is common after transplantation.

18 Dec 2014

Brandeis University researchers capture highest resolution images of cilia ever

Cilia, the cell's tails and antennas, are among the most important biological structures. They line our windpipe and sweep away all the junk we inhale; they help us see, smell and reproduce. When a mutation disrupts the function or structure of cilia, the effects on the human body are devastating and sometimes lethal.

18 Dec 2014