Mutation News and Research

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Trovagene, University of Southern California enter into clinical collaboration agreement

Trovagene, Inc., a developer of molecular diagnostics for cancer monitoring, today announced that the Company has entered into a clinical collaboration agreement with the University of Southern California to study genomic characterizations of metastatic colorectal cancers using Trovagene's proprietary cell-free DNA assays.

6 Sep 2013

Researchers explore distinctions between natural sleep and anesthetic unconsciousness

Falling asleep in your bed at night and being "put to sleep" under general anesthesia - as well as waking up in the morning or coming out of anesthesia - aren't quite the same thing, yet they share some important similarities. Max Kelz, MD, PhD, assistant professor of Anesthesiology and Critical Care at the Perelman School of Medicine at the University of Pennsylvania, along with colleagues from Penn, UCSD, Howard Hughes Medical Institute, and Thomas Jefferson University, explored the distinctions between anesthetic unconsciousness and sleep by manipulating the genetic pathways known to be involved in natural sleep and studying the resulting effects on anesthetic states.

6 Sep 2013

Bioinformatics researchers investigate functional diversity of proteins

No two human beings are the same. Although we all possess the same genes, our genetic code varies in many places. And since genes provide the blueprint for all proteins, these variants usually result in numerous differences in protein function. But what impact does this diversity have? Bioinformatics researchers at Rutgers University and the Technische Universitaet Muenchen have investigated how protein function is affected by changes at the DNA level.

6 Sep 2013

Molecular marker predicts longer survival among patients prescribed two cancer drugs

Johns Hopkins scientists have identified a molecular marker called "Mig 6" that appears to accurately predict longer survival -- up to two years -- among patients prescribed two of the most widely used drugs in a class of anticancer agents called EGFR inhibitors.

6 Sep 2013

Research uncovers defective process in patients with autosomal dominant polycystic kidney disease

New research has uncovered a process that is defective in patients with autosomal dominant polycystic kidney disease, a common cause of kidney failure. The findings, which appear in an upcoming issue of the Journal of the American Society of Nephrology (JASN), point to a new potential strategy for preventing and treating the disease.

6 Sep 2013

UCSF to receive grant to study gene sequencing aimed at detecting disorders in newborns

UC San Francisco will receive $4.5 million over the next five years for a pilot project to assess whether large-scale gene sequencing aimed at detecting disorders and conditions can and should become a routine part of newborn testing.

6 Sep 2013

New gene that causes cystic kidneys in children, young adults identified

Sylvia Hoff, a graduate student from the Spemann Graduate School of Biology and Medicine, has identified a new gene that causes cystic kidneys in children and young adults.

6 Sep 2013

International team of scientists discover new disease related to inability to process Vitamin B12

An international team of scientists, including University of Colorado School of Medicine and Children's Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12.

6 Sep 2013

Inner-ear dysfunction can increase hyperactivity, say researchers

Behavioral abnormalities are traditionally thought to originate in the brain. But a new study by researchers at Albert Einstein College of Medicine of Yeshiva University has found that inner-ear dysfunction can directly cause neurological changes that increase hyperactivity.

6 Sep 2013

Researchers hope to protect humans from another deadly outbreak like HIV

Throughout Asia, humans and monkeys live side-by side in many urban areas. An international research team from the University of Washington, Fred Hutchinson Cancer Research Center and Jahangirnagar University has been examining transmission of a virus from monkeys to humans in Bangladesh, one of the world's most densely populated countries.

5 Sep 2013

Myriad, Astrazeneca Expand Collaboration On Olaparib

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4 Sep 2013

Study identifies new tool to accurately analyze mtDNA deletions associated with diseases, aging

A study published today in Aging Cell identifies a new tool to accurately analyze extremely rare mitochondrial DNA deletions associated with a range of diseases and disorders as well as aging. This approach, which relies on Droplet Digital PCR (ddPCR-) technology, will help researchers explore mtDNA deletions as potential disease biomarkers.

4 Sep 2013

New method to detect genetic variations that initiate colon cancer

A new, highly sensitive method to detect genetic variations that initiate colon cancer could be readily used for noninvasive colon cancer screening, according to a study published in Cancer Prevention Research, a journal of the American Association for Cancer Research.

4 Sep 2013

NIH-funded study finds zebrafish model may help identify treatments for childhood epilepsy

According to new research on epilepsy, zebrafish have certainly earned their stripes. Results of a study in Nature Communications suggest that zebrafish carrying a specific mutation may help researchers discover treatments for Dravet syndrome (DS), a severe form of pediatric epilepsy that results in drug-resistant seizures and developmental delays.

4 Sep 2013

Blind mole-rats live underground in low-oxygen environments, are long-lived and resistant to cancer

Like naked mole-rats (Heterocephalus gaber), blind mole-rats (of the genus Spalax) live underground in low-oxygen environments, are long-lived and resistant to cancer. A new study demonstrates just how cancer-resistant Spalax are, and suggests that the adaptations that help these rodents survive in low-oxygen environments also play a role in their longevity and cancer resistance.

4 Sep 2013

Research: Male sexual development less stable than other genetic programs

The idea that men and women are fundamentally different from each other is widely accepted. And throughout the world, this has created distinct ideas about which social and physical characteristics are necessary in each gender to maintain healthy human development.

3 Sep 2013

Researchers develop new model to predict treatment success more accurately

The HI virus is feared, not least, because of its great adaptability. If the virus mutates at precisely the point targeted by a drug, it is able to neutralise the attack and the treatment fails. To minimise these viral defence mechanisms, doctors treat patients with modern combination therapies involving the simultaneous administration of several drugs. This approach forces the virus to run through a series of mutations before it becomes immune to the drugs.

2 Sep 2013

Drug for children with sickle cell anemia reduces hospitalizations and treatment costs

A drug proven effective for treatment of adults and children with sickle cell anemia reduced hospitalizations and cut annual estimated medical costs by 21 percent for affected infants and toddlers, according to an analysis led by St. Jude Children's Research Hospital. The report appears today in the advance online edition of the journal Pediatrics.

2 Sep 2013

Holistic approach to understand and treat TB

For years, physicians around the world have watched as strain after strain of the deadly bacteria Mycobacterium tuberculosis evolves resistance to drugs.

2 Sep 2013

New delivery system for combination of 2 FDA approved drugs to fight HIV

A University of Minnesota research team featuring researchers from the Institute for Molecular Virology, School of Dentistry and Center for Drug Design has developed a new delivery system for a combination of two FDA approved drugs that may serve as an effective treatment for the human immunodeficiency virus (HIV).

31 Aug 2013

Mutation News and Research

Trovagene, University of Southern California enter into clinical collaboration agreement

Researchers explore distinctions between natural sleep and anesthetic unconsciousness

Bioinformatics researchers investigate functional diversity of proteins

Molecular marker predicts longer survival among patients prescribed two cancer drugs

Research uncovers defective process in patients with autosomal dominant polycystic kidney disease

UCSF to receive grant to study gene sequencing aimed at detecting disorders in newborns

New gene that causes cystic kidneys in children, young adults identified

International team of scientists discover new disease related to inability to process Vitamin B12

Inner-ear dysfunction can increase hyperactivity, say researchers

Researchers hope to protect humans from another deadly outbreak like HIV

Myriad, Astrazeneca Expand Collaboration On Olaparib

Study identifies new tool to accurately analyze mtDNA deletions associated with diseases, aging

New method to detect genetic variations that initiate colon cancer

NIH-funded study finds zebrafish model may help identify treatments for childhood epilepsy

Blind mole-rats live underground in low-oxygen environments, are long-lived and resistant to cancer

Research: Male sexual development less stable than other genetic programs

Researchers develop new model to predict treatment success more accurately

Drug for children with sickle cell anemia reduces hospitalizations and treatment costs

Holistic approach to understand and treat TB

New delivery system for combination of 2 FDA approved drugs to fight HIV

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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