Mutation News and Research

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Researchers use gene-editing tool CRISPR/Cas9 to limit impact of parasitic diseases

For the first time, researchers at the George Washington University, together with colleagues at institutes in Thailand, Australia, the U.K. and the Netherlands, and more, have successfully used the gene-editing tool CRISPR/Cas9 to limit the impact of parasitic worms responsible for schistosomiasis and for liver fluke infection, which can cause a diverse spectrum of human disease including bile duct cancer.

16 Jan 2019

Study suggests key role for glial cells in Parkinson's disease

A team of scientists led by Prof. Antonella Consiglio from the IDIBELL and the University of Barcelona, and Prof. Angel Raya from the Center of Regenerative Medicine of Barcelona have discovered that defective versions of human brain cells called astrocytes are linked to the buildup of a toxic protein that is one the hallmarks of Parkinson's disease.

16 Jan 2019

Researchers discover how cancer cells avoid genetic meltdown

A team of scientists have shed light on how cancer cell populations avoid genetic meltdown, despite the rapid accumulation of harmful mutations.

15 Jan 2019

Synthetic compound reverses mutant p53 aggregate accumulation, study shows

Cancer is a multidisciplinary disease, with different mutations leading to different prognoses and treatment necessities. Among the most important mutation targets in cancers, affecting more than 50% of all cancer cases, is TP53.

14 Jan 2019

Researchers identify multiple new subtypes of most common childhood cancer

Like cartographers completing a map, investigators have identified multiple new subtypes of the most common childhood cancer--research that will likely improve the diagnosis and treatment of high-risk patients.

14 Jan 2019

New method modifies blood stem cells to reverse genetic mutation that causes IPEX

UCLA researchers led by Dr. Donald Kohn have created a method for modifying blood stem cells to reverse the genetic mutation that causes a life-threatening autoimmune syndrome called IPEX.

11 Jan 2019

Defective astrocytes linked to alpha-synuclein accumulation in Parkinson's

Researchers have found that defects in brain glial cells called astrocytes are linked to the accumulation of alpha-synuclein in Parkinson's disease.

10 Jan 2019

New method to speed up genetic diagnosis of Huntington’s disease

Elongated segments of DNA cause Huntington's disease and certain other disorders of the brain. Researchers funded by the SNSF have developed a method to determine the length of the mutated genes quickly and easily.

10 Jan 2019

Study uncovers a protein involved in lung cancer treatment resistance

Lung cancer remains a major cause of mortality across the globe, although we are gaining a deeper understanding of the genetic background behind this disease, including the mutations that promote it.

10 Jan 2019

Mice sleeping fitfully help unravel mystery of insomnia

Mice that sleep fitfully could help researchers unravel the mystery of insomnia. Researchers at Washington University School of Medicine in St. Louis studied mice genetically modified to mimic the genetic disease neurofibromatosis type 1, which is associated with sleep problems.

9 Jan 2019

Drug combination has added benefit for patients with melanoma

The German Institute for Quality and Efficiency in Health Care investigated whether the drug combinations of dabrafenib plus trametinib and of encorafenib plus binimetinib have an added benefit in comparison with the appropriate comparator therapies for patients with melanoma.

9 Jan 2019

Researchers identify and overcome barrier in CRISPR gene editing to treat muscular dystrophy

The gene editing technique known as CRISPR is a revolutionary approach to treating inherited diseases. However, the tool has yet to be used to effectively treat long-term, chronic conditions.

9 Jan 2019

PAC1R mutation in children with autism may be linked to severity of social problems

A mutation of the gene PAC1R may be linked to the severity of social deficits experienced by kids with autism spectrum disorder, finds a study from a multi-institutional research team led by Children's faculty.

8 Jan 2019

New, potential therapy can disrupt myeloid cells that promote tumor growth

Cancerous tumors trick myeloid cells, an important part of the immune system, into perceiving them as a damaged part of the body; the tumors actually put myeloid cells to work helping them grow and metastasize (spread).

7 Jan 2019

Bulldogs' screw tails linked to rare inherited syndrome in humans

With their small size, stubby faces and wide-set eyes, bulldogs, French bulldogs and Boston terriers are among the most popular of domestic dog breeds. Now researchers at the University of California, Davis, School of Veterinary Medicine have found the genetic basis for these dogs' appearance, and linked it to a rare inherited syndrome in humans.

3 Jan 2019

Researchers identify genes that drive male-female brain differences, trigger initiation of puberty

Researchers have identified a group of genes that induces differences in the developing brains of male and female roundworms and triggers the initiation of puberty, a genetic pathway that may have the same function in controlling the timing of sual maturation in humans.

3 Jan 2019

ERADA launches first diagnostic saliva test for malaria

ERADA Technology Alliance Ltd, pioneers of innovative, rapid diagnostic solutions for early detection of infectious diseases, have announced the imminent launch of a world first diagnostic saliva test for malaria.

2 Jan 2019

Scientists cast new light on function of long-mysterious PCSK9 mutation

High levels of low-density lipoproteins, parcels of lipids and protein that carry cholesterol, are a leading risk factor for heart disease. Many cholesterol medications lower LDL, some of them by targeting the protein PCSK9. In the January issue of the Journal of Lipid Research, scientists at the University of California, San Francisco, report on an investigation into why experiments on PCSK9 give different results in a test tube and in liver cells.

2 Jan 2019

Study provides new insights into how genes are activated

In a study in Nature, researchers at Karolinska Institutet present a new method for analyzing how instructions in the genome control how our genes are activated in individual cells.

2 Jan 2019

Rockefeller scientists uncover genetic mutation responsible for tuberculosis vulnerability

If you live in the United States, you are unlikely to come into contact with the microbe that causes tuberculosis. Your odds of encountering the microbe are so low, in fact, that risk factors for the disease can easily go unnoticed: If you happened to carry a gene that predisposed you to tuberculosis, you likely wouldn't know.

2 Jan 2019