Mutation News and Research

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Tumor mutation load in patient's biopsy varies by age and type of cancer

A team of investigators led by researchers at Georgetown Lombardi Comprehensive Cancer Center has found that the tumor mutation load, or TML, in a patient's cancer biopsy varied by age and the type of cancer, along with several other factors.

18 May 2017

‘Disease in a dish’ model pinpoints how defects in blood-brain barrier can cause psychomotor disorder

Scientists for the first time have assembled a "disease in a dish" model that pinpoints how a defect in the blood-brain barrier can produce an incurable psychomotor disorder, Allan-Herndon-Dudley syndrome.

17 May 2017

Spanish scientists develop promising gene therapy method to treat Wilson's disease

Scientists at the Center for Applied Medical Research at the University of Navarra have designed a promising gene therapy method to treat Wilson's disease, a rare pathology caused by the lack of or malfunction of a gene.

16 May 2017

Researchers identify many dangerous strains of TB pathogens

Researchers from the Vavilov Institute of General Genetics of the Russian Academy of Sciences (VIGG) and the Moscow Institute of Physics and Technology have established a catalog of mutations in 319 virulence genes of mycobacteria that cause tuberculosis.

16 May 2017

New gene variant linked to Lou Gehrig's disease

For the first time, a variant in UBQLN4 gene has been associated with Lou Gehrig's disease or amyotrophic lateral sclerosis (ALS) - a progressive disease resulting in the loss of nerve cells that control muscle movement, which eventually leads to paralysis and death.

15 May 2017

COSMIC'S new 3D system can help identify and characterize cancer drug targets

COSMIC-3D, the most comprehensive system for exploring cancer mutations in three dimensions, is launched today by COSMIC, based at the Wellcome Trust Sanger Institute, in collaboration with Astex Pharmaceuticals, Cambridge, UK.

15 May 2017

Guardant Health introduces new initiative to sequence tumor DNA of one million cancer patients

Guardant Health, the world leader in comprehensive liquid biopsies, announced an ambitious goal to sequence the tumor DNA of more than 1 million cancer patients within five years.

15 May 2017

CUMC researchers create new organoids that mimic features of full-sized lung

New lung "organoids"-tiny 3-D structures that mimic features of a full-sized lung- have been created from human pluripotent stem cells by researchers at Columbia University Medical Center. The team used the organoids to generate models of human lung diseases in a lab dish, which could be used to advance our understanding of a variety of respiratory diseases.

11 May 2017

Researchers discover genetic mutation that can cause aortic dissection

Researchers at Umeå University in Sweden have discovered a genetic mutation that can cause dissection of the thoracic aorta, which is the body's main artery.

11 May 2017

Sangamo Therapeutics and Pfizer team up for development of Hemophilia A gene therapy

Sangamo Therapeutics, Inc. and Pfizer Inc. today announced an exclusive, global collaboration and license agreement for the development and commercialization of gene therapy programs for Hemophilia A, including SB-525, one of Sangamo's four lead product candidates, which Sangamo expects will enter the clinic this quarter.

11 May 2017

Early-onset pancreatitis in children linked to family history and genetic mutations

A study published today in The Journal of Pediatrics suggests that early-onset pancreatitis in children is strongly associated with certain genetic mutations and family history of pancreatitis.

10 May 2017

UT Health scientists discover epigenetic changes that contribute to AML

UT Health San Antonio researchers discovered epigenetic changes that contribute to one-fifth of cases of acute myeloid leukemia (AML), an aggressive cancer that arises out of the blood-forming cells in bone marrow.

10 May 2017

Gut microbiome may play key role in pathology of common cerebrovascular disease

Bacteria in the gut microbiome drive the formation of cerebral cavernous malformations (CCMs), clusters of dilated, thin-walled blood vessels in the brain that can cause stroke and seizures, according to new research published this week in Nature by researchers from the Perelman School of Medicine at the University of Pennsylvania.

10 May 2017

Studies pave way for genome-targeted treatments in pancreatic cancer

University of Pittsburgh and UPMC researchers are paving the way for genome-targeted treatments in pancreatic cancer, an especially deadly form of cancer with few existing therapeutic options, according to a pair of recent studies.

9 May 2017

Study reveals role of good-guy protein in initiating and maintaining cancer

Under normal conditions, the CHD4 protein is one of the good guys: it stops cells from transcribing faulty DNA, thereby eliminating potential mutation. But in colon cancer and perhaps other kinds of cancer as well, it appears that this protein becomes a kind of double agent, working for the enemy.

9 May 2017

Energy drinks linked to risk of cardiac events in young people with familial long QT syndrome

Caffeinated energy drinks can trigger serious cardiac events including cardiac arrest in individuals not known to have a specific heart disease of genetic origin.

8 May 2017

Study shows how influenza A hijacks human cellular machinery to replicate

Much is known about flu viruses, but little is understood about how they reproduce inside human host cells, spreading infection. Now, a research team headed by investigators from the Icahn School of Medicine at Mount Sinai is the first to identify a mechanism by which influenza A, a family of pathogens that includes the most deadly strains of flu worldwide, hijacks cellular machinery to replicate.

5 May 2017

FDA approves new AML drug after clinical testing at Dana-Farber

A targeted drug whose clinical testing was led by Richard Stone, MD, of Dana-Farber Cancer Institute, has become the first new treatment for newly diagnosed acute myeloid leukemia (AML) in more than 25 years.

5 May 2017

Scientists identify RIOK1 enzyme as new target for cancer therapy

Dr. Florian Weinberg, from Prof. Dr. Tilman Brummer's research group at the Institute of Molecular Medicine and Cell Research of the University of Freiburg, joined forces with scientists from the Departments of Clinical Pathology and Medicine I of the University Medical Centre Freiburg and the Kinghorn Cancer Centre/Garvan Insitute in Australia in an international team that has identified a new target for cancer therapy.

5 May 2017

Study sheds light on neural mechanisms of Fragile X syndrome

A collaboration between scientists in Belgium, the United States, Norway, France and the UK has resulted in a study that sheds light on the neural mechanisms of Fragile X syndrome.

5 May 2017