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Mutations identified that enable human transmission of avian flu

A systematic mutation analysis has shown that changes in just three amino acids of the avian influenza H7N9 virus receptor binding protein confers specificity for human cells.

16 Jun 2017

Nagoya University research identifies skin disease inherited as germline mutation from father

Nagoya University research identified a patient with the whole-body skin disease epidermolytic ichthyosis that had been inherited as a germline mutation from her father with the milder epidermolytic nevus.

16 Jun 2017

NSAIDs linked to longer survival for certain colorectal cancer patients

Among long-term colorectal cancer survivors, use of nonsteroidal anti-inflammatory drugs, or NSAIDs, is associated with about a 25 percent reduction in all-cause mortality, according to new research from Fred Hutchinson Cancer Research Center published online in the Journal of Clinical Oncology.

16 Jun 2017

New TSRI study could have implications for development of flu vaccines, drug therapies

Scientists at The Scripps Research Institute have shown that for the virus that causes the flu, two wrongs can sometimes make a right.

15 Jun 2017

Study shows how RNA splicing errors may trigger development of ALS, FTD

The most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)- rare and related neurological disorders marked by progressive deterioration of motor or cognitive abilities- may be due to errors in RNA splicing, an intermediary step for translating genetic instructions into functional proteins.

14 Jun 2017

New mutation in MUC1 gene could be valuable biomarker for diagnosing kidney disease

Medullary cystic kidney disease type 1 (MCKD1) is a rare genetic kidney disease. Despite this, because it is an autosomal dominant disease, once the mutation is in a family, many family members are affected. Current diagnostic methods discover the disease late in its development.

14 Jun 2017

Scientists create method for mapping genome-wide DNA damage caused by chemical carcinogen

Scientists have known for decades that smoking cigarettes causes DNA damage, which leads to lung cancer. Now, for the first time, UNC School of Medicine scientists created a method for effectively mapping that DNA damage at high resolution across the genome.

13 Jun 2017

Review suggests need for improved treatment outcome measures in clinical trials for FXS

A group of researchers from several institutions in the USA, including Johns Hopkins Medicine, reports that its review of 22 clinical trials of fragile X syndrome (FXS) suggests the need for a wider use of newer and improved treatment outcome measurement tools for this and other several neurodevelopmental disorders.

13 Jun 2017

Decades-old drug used to treat malaria reduces toxic protein linked to ALS

A new study finds that a decades-old drug used to treat malaria lowers levels of a biomarker linked to the inherited form of amyotrophic lateral sclerosis, also known as ALS and Lou Gehrig's Disease.

12 Jun 2017

Study provides new insight into cells that rejuvenate the brain

Alzheimer's disease is a neurodegenerative disease manifested by various neuronal pathological processes and a significant decline in brain function.

9 Jun 2017

Researchers who study HED identify mechanism that may be disrupted in male pattern baldness

It is almost axiomatic in medicine that the study of rare disorders informs the understanding of more common, widespread ailments.

8 Jun 2017

Genetic manipulation of exosomes may offer new therapeutic approach to treating pancreatic cancer

Genetic manipulation of exosomes, virus-sized particles released by all cells, may offer a new therapeutic approach to treating pancreatic cancer, according to a study at The University of Texas MD Anderson Cancer Center.

8 Jun 2017

UM SOM scientists identify mutated gene that may be key player in heart disease

Heart disease kills more than 600,000 Americans every year, which translates to more than one in every four deaths. Although lifestyle choices contribute to the disease, genetics play a major role.

7 Jun 2017

Study suggests promising therapeutic strategy for childhood brain tumor

A study published in Molecular Cancer Research reveals that a tumor suppressor gene p16 is turned off by a histone mutation (H3.3K27M), which is found in up to 70 percent of childhood brain tumors called diffuse intrinsic pontine glioma (DIPG).

6 Jun 2017

Galactic cosmic ray exposure increases cancer risk for astronauts traveling to the red planet

The cancer risk for a human mission to Mars has effectively doubled following a UNLV study predicting a dramatic increase in the disease for astronauts traveling to the red planet or on long-term missions outside the protection of Earth's magnetic field.

6 Jun 2017

New targeted oral therapy results in durable responses across many kinds of cancer

Scientists may have developed the first targeted, oral, tumor-type agnostic therapy - a cancer medicine that works comparably well across many kinds of cancer, regardless of patient age. In clinical trials of adults and children with 17 different types of advanced cancer, larotrectinib treatment resulted in responses in 76% of patients.

5 Jun 2017

Positive results for AstraZeneca’s PARP inhibitor Lynparza in advanced breast cancer

A new study has shown that AstraZeneca's Lynparza (olaparib) can significantly slow the progress of breast cancer that is caused partially due to mutations of the culprit gene called BRCA. BRCA gene mutations are responsible for around 3% of all breast cancers. These cases of the disease that have a basis in the gene are notoriously difficult to treat and women who are tested positive for this gene may even opt for removal of their breasts before even the cancer strikes. Noted actress Angelina Jolie went for a similar prophylactic mastectomy.

5 Jun 2017

Mutation News and Research

Mutations identified that enable human transmission of avian flu

Nagoya University research identifies skin disease inherited as germline mutation from father

NSAIDs linked to longer survival for certain colorectal cancer patients

New TSRI study could have implications for development of flu vaccines, drug therapies

Study shows how RNA splicing errors may trigger development of ALS, FTD

New mutation in MUC1 gene could be valuable biomarker for diagnosing kidney disease

Scientists create method for mapping genome-wide DNA damage caused by chemical carcinogen

Review suggests need for improved treatment outcome measures in clinical trials for FXS

Decades-old drug used to treat malaria reduces toxic protein linked to ALS

Study provides new insight into cells that rejuvenate the brain

Researchers who study HED identify mechanism that may be disrupted in male pattern baldness

Genetic manipulation of exosomes may offer new therapeutic approach to treating pancreatic cancer

UM SOM scientists identify mutated gene that may be key player in heart disease

Study suggests promising therapeutic strategy for childhood brain tumor

Galactic cosmic ray exposure increases cancer risk for astronauts traveling to the red planet

New targeted oral therapy results in durable responses across many kinds of cancer

Positive results for AstraZeneca’s PARP inhibitor Lynparza in advanced breast cancer

Combination therapy shows potential for effective treatment of RAS-mutant cancers

Tumorigenesis may be induced from neighboring tissues, study suggests

Study underlines significance of microglia for homeostasis in the brain

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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