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Hereditary spastic paraplegia characteristics unveiled

Researchers have detailed the characteristics of a large cohort of patients with hereditary spastic paraplegias.

15 Feb 2016

Scientists discover role of nucleocytoplasmic transport in specific forms of ALS and FTD

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two devastating adult-onset neurodegenerative disorders.

15 Feb 2016

New approach could be used to treat Duchenne muscular dystrophy

Scientists at the UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and Center for Duchenne Muscular Dystrophy at UCLA have developed a new approach that could eventually be used to treat Duchenne muscular dystrophy.

14 Feb 2016

Astrocytes implicated in preclinical AD

Astrocytes are activated in the brains of people with autosomal dominant Alzheimer’s disease long before symptoms appear and even before amyloidosis begins, a study shows.

12 Feb 2016

Humans can tolerate parasites responsible for sleeping sickness, Chagas disease, leishmaniasis

Humans can tolerate the parasites responsible for the sleeping sickness, Chagas disease and leishmaniasis for many years.

12 Feb 2016

Nutrients in food may influence our genes

Almost all of our genes may be influenced by the food we eat, suggests new research published today in the journal Nature Microbiology. The study, carried out in yeast - which can be used to model some of the body's fundamental processes - shows that while the activity of our genes influences our metabolism, the opposite is also true and the nutrients available to cells influence our genes.

12 Feb 2016

UW-Madison research team starts work on Zika virus infection

In October, when David O'Connor last visited Brazil as part of a decade-long research program studying drug-resistant strains of HIV, one of his Brazilian collaborators had a request.

11 Feb 2016

CMU researchers create robotically-driven experimentation system to reduce drug discovery cost

Researchers from Carnegie Mellon University have created the first robotically driven experimentation system to determine the effects of a large number of drugs on many proteins, reducing the number of necessary experiments by 70 percent.

11 Feb 2016

Researchers reveal inherited genetic mutations associated with ovarian cancer risk

Previous research has established a link between genetic mutations in the BRCA1 and BRCA2 genes to an increased risk of developing ovarian, fallopian tube or peritoneal cancer in women.

11 Feb 2016

Scientists propose use of mathematical models to find better treatment for bladder cancer

MIPT scientists together with their colleagues from St. Petersburg and Israel have analyzed more than 500 previously published scientific articles and proposed their own approach to the choice of methods used for the treatment of one of the most common cancers.

11 Feb 2016

Researchers identify genetic mutations that lower complications associated with diabetes

The most significant complications of diabetes include diabetic retinal disease, or retinopathy, and diabetic kidney disease, or nephropathy. Both involve damaged capillaries.

11 Feb 2016

SBP researchers identify molecular switch that controls genes needed to repair skeletal muscle

Researchers at Sanford Burnham Prebys Medical Research Institute (SBP) have conclusively identified the protein complex that controls the genes needed to repair skeletal muscle.

11 Feb 2016

Kumamoto University researchers identify protein that limits severity of Alport syndrome

Researchers from Kumamoto University, Japan have identified a protein that limits the severity of Alport syndrome, a type of genetic kidney disease. The finding can provide clues that point toward new therapeutic approaches for Alport syndrome.

11 Feb 2016

Helpful protein can change genetic sequence of normal cells and make mutations that cause cancers

Washington State University researchers have determined how a protein that helps cells fight viruses can also cause genetic mutations that lead to cancer.

10 Feb 2016

ESCMID gathers more solid data to better assess Zika virus risks, prepares for possible outbreak in Africa, Europe

Experts at the European Society of Clinical Microbiology and Infectious Diseases – an organization promoting research, risk assessment, knowledge sharing and best practices in the fight against infectious diseases – are developing tools to monitor the spread of the Zika virus and are conducting research to gather more solid data to better assess the risks associated with the infection.

10 Feb 2016

2D-NMR could be a powerful complementary technique for assessing biosimilarity of protein drugs

A first-ever interlaboratory study of four versions of a therapeutic protein drug—all manufactured from living cells—reports that an established analytical tool akin to magnetic resonance imaging reliably assessed the atomic structures of the biologically similar products, yielding the equivalent of a fingerprint for each.

10 Feb 2016

Temple team describes use of cadaver DNA to advance genetics learning in medical curriculum

Cadavers have long been one of the most important resources for anatomy teaching in medical school. Now, they are also at the forefront of cutting-edge genetics teaching, thanks to innovative thinking by professors at the Lewis Katz School of Medicine at Temple University.

10 Feb 2016

Researchers find new mutation signature in cancer cells

Mutations are the replacement of DNA bases known as Adenine (A), Cytosine (C), Guanine (G) and Thymine (T) with other bases. When mutations such as C to T or G to A are found within a specific DNA sequence, this is known as a mutation signature.

10 Feb 2016

Study reveals link between genomic instability, aneuploidy and cancer

A recent analysis of 43,205 human tumours unveiled that 68% of solid tumours are aneuploid, that is to say, they have an altered number of chromosomes. In recent years, scientists have attempted to clarify whether this aneuploidy contributes to tumour development or whether it is a co-lateral effect of the genomic instability of cancer cells, which increase the rate of mutations and the likelihood of cancer.

9 Feb 2016

$Certain genes could lead to stress fracture injuries$

Certain genes could lead to stress fracture injuries

In a paper published in The Official Journal of the International Purine Club University of Liverpool researchers have successfully identified how certain genes can contribute towards a person's susceptibility to stress fracture injuries. This research provides a platform for further research into providing a personalised health approach to this common sports injury.

9 Feb 2016

Mutation News and Research

Hereditary spastic paraplegia characteristics unveiled

Scientists discover role of nucleocytoplasmic transport in specific forms of ALS and FTD

New approach could be used to treat Duchenne muscular dystrophy

Astrocytes implicated in preclinical AD

Humans can tolerate parasites responsible for sleeping sickness, Chagas disease, leishmaniasis

Nutrients in food may influence our genes

UW-Madison research team starts work on Zika virus infection

CMU researchers create robotically-driven experimentation system to reduce drug discovery cost

Researchers reveal inherited genetic mutations associated with ovarian cancer risk

Scientists propose use of mathematical models to find better treatment for bladder cancer

Researchers identify genetic mutations that lower complications associated with diabetes

SBP researchers identify molecular switch that controls genes needed to repair skeletal muscle

Kumamoto University researchers identify protein that limits severity of Alport syndrome

Helpful protein can change genetic sequence of normal cells and make mutations that cause cancers

ESCMID gathers more solid data to better assess Zika virus risks, prepares for possible outbreak in Africa, Europe

2D-NMR could be a powerful complementary technique for assessing biosimilarity of protein drugs

Temple team describes use of cadaver DNA to advance genetics learning in medical curriculum

Researchers find new mutation signature in cancer cells

Study reveals link between genomic instability, aneuploidy and cancer

Certain genes could lead to stress fracture injuries

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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