Mutation News and Research

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The Achilles heel of APC-mutated colon tumors identified

In almost all cases of colon cancer, a specific gene is mutated – this offers opportunities to develop broadly effective therapeutic approaches. Research teams in Würzburg have taken this a step further.

5 Nov 2019

Newly identified gene variant may offer potential treatment for Alzheimer's disease

Defying the odds, an individual at high risk for early-onset Alzheimer's disease remained dementia-free for many years beyond what was anticipated.

4 Nov 2019

Genetic mutation of APOE gene may provide protection against Alzheimer's disease

A team of researchers has identified that a genetic mutation of the APOE gene, the major susceptibility gene for late-onset Alzheimer's disease, may provide protection against the devastating neurological illness.

4 Nov 2019

Researchers decipher gene function that protects against type 2 diabetes

Type 2 diabetes affects almost 400 million people across the world. It is caused by a combination of lifestyle as well as genetic factors which together result in high blood sugar levels.

4 Nov 2019

Scientists discover gene mutation involved in paraplegia and epilepsy

Researchers have made an important discovery that could help scientists understand the cause of paraplegia and epilepsy.

1 Nov 2019

Three-drug combination improves lung function, reduces symptoms in CF patients

A phase three clinical trial that UT Southwestern participated in determined that a three-drug combination improved lung function and reduced symptoms in cystic fibrosis patients who have a single copy of the most common genetic mutation for the disease.

31 Oct 2019

Three UCLA researchers receive multimillion-dollar grant from state's stem cell agency

Three researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have received awards totaling more than $18 million from the California Institute for Regenerative Medicine, the state's stem cell agency.

31 Oct 2019

Mechanism for antibiotic resistance in Pseudomonas explained in new research

A new study has revealed the underlying mechanism of development of antibiotic resistance among Pseudomonas aeruginosa (P. aeruginosa). Pseudomonas is known to cause severe and often life threatening infections in humans. These infections become further difficult to treat because of the development of resistance against commonly used antibiotics.

30 Oct 2019

Novel method for aggressive breast cancer detection

A new study in rats published in the journal Cell Reports shows that the pattern of RNA molecules produced within certain immune cells called macrophages, found within breast cancers (tumor-associated macrophages, TAMs), can tell whether the tumor is cancerous or not and indicate the type of outcome. The same pattern is present in humans as in mice. This makes it directly useful in predicting the nature of a breast tumor and its outcome.

30 Oct 2019

Liquid biopsy can predict prognosis in patients with glioblastoma

A blood test that measures the amount of cell-free DNA (cfDNA) in the bloodstream - called a liquid biopsy - correlates with how patients will progress after they are diagnosed with glioblastoma (GBM), the deadliest and most common primary brain tumor in adults.

30 Oct 2019

Improved Cas9 enzyme reduces chance of off-target CRISPR mutations

Genomics experts have discovered that when guide RNAs (gRNA) are designed properly, the risk of off-target mutations induced by the cas9 enzyme is very rare.

30 Oct 2019

Researchers discover cause of new inherited form of pancreatitis

What began as a 51-year-old mystery comes down to a single gene, as researchers from the University of Chicago and University of California, San Francisco discovered the cause of a new inherited form of pancreatitis.

29 Oct 2019

New method can indicate prognosis of aggressive breast cancer

Aggressive forms of breast cancer often manipulate the immune response in their favor. This manipulation is revealed in humans by the same immunological "signature" as in mice. This is shown by a study carried out by scientists from the University of Bonn together with Dutch colleagues.

29 Oct 2019

Discovery of causal link between hydrogen sulfide and schizophrenia

Researchers from the RIKEN Center for Brain Science in Japan have found certain chemical markers that are associated with schizophrenia. They worked with lab mice with models of schizophrenia as well as post mortem brain specimens of persons with schizophrenia. The study titled, “Excess hydrogen sulfide and polysulfides production underlies a schizophrenia pathophysiology,” was published in the latest issue of the journal EMBO Molecular Medicine.

28 Oct 2019

NCCN ORP plans to support phase II randomized trial for lung cancer patients

The National Comprehensive Cancer Network Oncology Research Program today announced plans to support a phase II randomized trial for lung cancer patients.

28 Oct 2019

New cystic fibrosis drug now available through NHS England

On October 24, 2019, cystic fibrosis (CF) patients rejoiced at the news that three years of talks between the UK’s National Institute for Health and Care Excellence (NICE) and Vertex Pharmaceuticals had succeeded in a compromise which could see about 5,000 patients gaining access to a potentially life-saving drug called Orkambi within the next month. Orkambi is perceived to be a ‘wonder drug’ because it helps these patients to breathe easier and better, and can be started as young as two years.

28 Oct 2019