Mutation News and Research

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Novel computational analysis of prostate cancer suggests potential targets for therapy

Cancer researchers have applied a comprehensive set of analytical tools to lethal cases of metastatic prostate cancer, yielding a detailed map of the complex networks of interactions among genes and proteins that enable prostate cancer cells to proliferate and evade treatment.

11 Aug 2016

Cutting off fuel to cancer cells may be potential therapeutic strategy for Kras-driven lung cancers

Research from investigators at Rutgers Cancer Institute of New Jersey and Princeton University has identified a new approach to cancer therapy in cutting off a cancer cell's 'fuel supply' by targeting a cellular survival mechanism known as autophagy.

11 Aug 2016

New disease gene linked to shortened telomeres appears to raise risk of pulmonary fibrosis-emphysema

Johns Hopkins researchers say they have identified a new disease gene that, when mutated, appears to increase the risk in a small number of people of developing emphysema and a lung-scarring condition known as pulmonary fibrosis.

10 Aug 2016

Geneticists identify enzyme that regulates chromosome segregation during meiosis

GENETICISTS have identified an enzyme which regulates the production of sperm and egg cells in human reproduction.

10 Aug 2016

Gene mutation linked to impulsive drunken behaviour shields bearers from obesity, insulin resistance

University of Helsinki researchers have previously demonstrated that a point mutation in a gene of serotonin 2B receptor can render the carrier prone to impulsive behaviour, particularly when drunk.

10 Aug 2016

Rare genetic variations linked to severe porphyria

An international research team has linked rare variations in a cell membrane protein to the wide variation in symptom severity that is a hallmark of porphyria, a rare disorder that often affects the skin, liver and nervous system.

10 Aug 2016

Researchers develop computational algorithm to analyze big genomic data for different cancers

University of Hawai'i Cancer Center researchers developed a computational algorithm to analyze "Big Data" obtained from tumor samples to better understand and treat cancer.

10 Aug 2016

Researchers develop machine-learning program that helps identify hundreds of ASD-related genes

Investigators eager to uncover the genetic basis of autism could now have hundreds of promising new leads thanks to a study by Princeton University and Simons Foundation researchers.

9 Aug 2016

Scientists link malfunctioning molecular pathways to specific heart abnormalities in SCA

Patients with sickle cell anemia (SCA) develop heart complications and nearly a quarter die a sudden death. Now, researchers have linked malfunctioning molecular pathways to specific heart anomalies in SCA that result from progressive fibrosis and result in sudden death.

9 Aug 2016

Experts develop new genomic testing method for pulmonary hypertension caused by genetic mutation

Pulmonology and genetics experts from two Utah healthcare organizations have collaboratively developed a new diagnostic genomic testing method for a rare form of pulmonary hypertension caused by a genetic mutation they discovered three years ago.

9 Aug 2016

Researchers shed new light on roots of dystonia

Researchers at VIB-KU Leuven have managed to get a clearer view on the roots of dystonia, a neurological disorder that causes involuntary twisting movements.

9 Aug 2016

New study shows hedgehog signalling offers protection against colon cancer

Many types of cancer are caused by gene mutations in the signalling pathways that control cell growth, such as the hedgehog signalling pathway.

8 Aug 2016

New findings on microcephaly may offer clues to explore how Zika virus disrupts brain development

Long before Zika virus made it a household word, the birth defect called microcephaly puzzled scientists and doctors -- even as it changed the lives of the babies born with it during the pre-Zika era.

8 Aug 2016

Researchers show how p53 protein can control gene expression at levels of transcription, mRNA translation

Proteins that bind DNA or RNA are usually put in different categories, but researchers at Umea University in Sweden and Inserm in France recently showed how the p53 protein has the capacity to bind both and how this controls gene expression on the levels of both transcription (RNA synthesis) and mRNA translation (protein synthesis).

7 Aug 2016

Botulinum toxins may cause remote effects by moving between neurons

The botulinum toxins are among the deadliest substances on Earth, and two specific toxins — including the popular drug Botox — have multiple uses for treating many neuromuscular conditions, including frown lines, disabling muscle spasms and migraine headaches.

5 Aug 2016

Brazilian study discovers promising therapeutic and diagnostic target for treatment of melanoma

A Brazilian study shows that inhibition of an RNA named RMEL3, which is encoded by a previously uncharacterized gene (also named RMEL3), can reduce the viability of cultured melanoma cells by up to 95%.

4 Aug 2016

Experimental immunotherapeutic strategy may pave way for new treatments against lymphoma

Lymphoma is a cancer that affects lymphocytes, a type of white blood cell. The disease originates in a lymphoid organ (lymph node, spleen, or bone marrow) before spreading through the blood to infiltrate not only other lymphoid organs but also other tissues.

4 Aug 2016

Research findings may have implications for ALS and other neurological disorders

Amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease) is a progressive disorder that devastates motor nerve cells. People diagnosed with ALS slowly lose the ability to control muscle movement, and are ultimately unable to speak, eat, move, or breathe.

4 Aug 2016

Scientists uncover genetic cause of rare pediatric progressive neuropathy

Researchers from the National Institutes of Health and their colleagues identified the genetic cause and a possible therapeutic target for a rare form of pediatric progressive neuropathy.

3 Aug 2016

New drug treatment could reduce body weight in obese patients with rare genetic disorder

As part of a phase II study at Charité - Universitätsmedizin Berlin and the Berlin Institute of Health, two obese patients with a rare genetic disorder were given a drug treatment to stimulate the satiety center in the brain.

3 Aug 2016

Mutation News and Research

Novel computational analysis of prostate cancer suggests potential targets for therapy

Cutting off fuel to cancer cells may be potential therapeutic strategy for Kras-driven lung cancers

New disease gene linked to shortened telomeres appears to raise risk of pulmonary fibrosis-emphysema

Geneticists identify enzyme that regulates chromosome segregation during meiosis

Gene mutation linked to impulsive drunken behaviour shields bearers from obesity, insulin resistance

Rare genetic variations linked to severe porphyria

Researchers develop computational algorithm to analyze big genomic data for different cancers

Researchers develop machine-learning program that helps identify hundreds of ASD-related genes

Scientists link malfunctioning molecular pathways to specific heart abnormalities in SCA

Experts develop new genomic testing method for pulmonary hypertension caused by genetic mutation

Researchers shed new light on roots of dystonia

New study shows hedgehog signalling offers protection against colon cancer

New findings on microcephaly may offer clues to explore how Zika virus disrupts brain development

Researchers show how p53 protein can control gene expression at levels of transcription, mRNA translation

Botulinum toxins may cause remote effects by moving between neurons

Brazilian study discovers promising therapeutic and diagnostic target for treatment of melanoma

Experimental immunotherapeutic strategy may pave way for new treatments against lymphoma

Research findings may have implications for ALS and other neurological disorders

Scientists uncover genetic cause of rare pediatric progressive neuropathy

New drug treatment could reduce body weight in obese patients with rare genetic disorder

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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