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Prostate Cancer Awareness Month: Myriad Genetics working to educate public about hereditary cancer risk assessment

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, is working to educate the public about hereditary cancer risk assessment and testing during Prostate Cancer Awareness Month this September.

11 Sep 2017

Combination therapy found to be effective adjuvant treatment option in melanoma patients

Combination targeted adjuvant therapy with dabrafenib and trametinib doubles relapse-free survival in patients with stage III BRAF-mutant melanoma, according to late-breaking results from the COMBI-AD trial presented today at the ESMO 2017 Congress in Madrid and published in the New England Journal of Medicine.

11 Sep 2017

A rare dementia gene runs in the family, but he’s fine — so far

John Janda knows he takes after his mother. At 68, the graying building contractor is sentimental, just as she was. He smiles indulgently as he shows off photos of his 9-month-old grandson; he tears up at the memory of losing his dad in a construction accident more than 40 years ago.

11 Sep 2017

Generation Genome: the UK’s genetics revolution?

The report set out the NHS’ intentions of routinizing whole genome sequencing. It is particularly focused towards rare diseases and cancers, although conditions such as obesity, bacterial and other infections are also included.

11 Sep 2017

Combination immunotherapy as second or third line treatment of mesothelioma shows promising results

Combination immunotherapy as second or third line treatment extends overall survival to at least 15 months in patients with pleural malignant mesothelioma, according to late-breaking results from the MAPS2 trial presented today at the ESMO 2017 Congress in Madrid.

11 Sep 2017

LORELEI trial: Treatment with alpha specific PI3K inhibitor reduces breast tumor size

Adding taselisib to letrozole before surgery significantly improved outcomes for patients with early breast cancer that was both estrogen receptor positive and HER2-negative (ER+/HER2-) according to results of the LORELEI trial, presented at the ESMO 2017 Congress in Madrid.

8 Sep 2017

Newly-discovered mutation highlights complex genetic network that underpins blood disorder

Porphyrias, a group of eight known blood disorders, affect the body's molecular machinery for making heme, which is a component of the oxygen-transporting protein, hemoglobin. When heme binds with iron, it gives blood its hallmark red color.

7 Sep 2017

Exploration of human genetics reveals new targets to combat heart disease

Again and again, it's the rare among humans that help the rest of us. The exploration of human genetics is revealing new targets to combat heart disease among atypical variants. Mutations in genes that play a role in heart health are the inspiration for a cluster of new heart drugs.

7 Sep 2017

Scientists win new funding to speed up translation of MS research into practice

An innovative multiple sclerosis Research Fellowship designed to fast-track scientific knowledge into clinical practice has been awarded to two researchers at the University of Tasmania’s Menzies Institute for Medical Research.

6 Sep 2017

Japanese scientists uncover new genetic marker for schizophrenia

Schizophrenia is a complicated disease that often appears in early adulthood. Although scientists have not traced the genetic causes, more than 80% of schizophrenia cases are considered to have a hereditary cause.

5 Sep 2017

Combined DNA and protein 'liquid biopsy' more accurate in identifying early-stage pancreatic cancer

Johns Hopkins scientists say they have developed a blood test that spots tumor-specific DNA and protein biomarkers for early-stage pancreatic cancer.

4 Sep 2017

Mutations altering gene function play role in development of intellectual disabilities

Intellectual disabilities are often caused by a mutation that damages a gene, preventing the associated protein from functioning properly.

1 Sep 2017

Researchers perform first-ever clinical trial involving genetic screening for Parkinson’s disease

In the first ever clinical investigation involving genetic screening for Parkinson's disease, researchers are testing whether the presence of a specific genetic mutation identifies which patients are the best candidates for deep brain stimulation surgery, and whether neurologists should perform that procedure differently based on that genetic information.

1 Sep 2017

Scientists question CRISPR human embryo editing claims

A paper published in the journal Nature on the 2nd August described how a gene editing tool CRISPR could be used to correct a genetic mutation that leads to a heart condition. This team had performed the genetic editing on the gene sequences in dozens of viable human embryos to attempt to prevent a genetic heart condition called hypertrophic cardiomyopathy.

31 Aug 2017

Study identifies unexpected mosaic mutations as new risk factor for developing autism

Autism spectrum disorder affects approximately one out of every 68 children in the United States. Despite expansive study, the origin and risk factors of the complex condition are not fully understood.

31 Aug 2017

New method of genetic testing leads to successful targeting of MET fusion in lung cancer

There are many ways a gene can be altered and there are many genes that, when altered, can cause cancer. Testing individually for each possible alteration in every cancer-related gene is not feasible as it would require hundreds of individual tests and many, many thousands of dollars.

31 Aug 2017

Potential rare gene mutation could act as predictor for schizophrenia and autism

Huntington's disease, cystic fibrosis, and muscular dystrophy are all diseases that can be traced to a single mutation. Diagnosis in asymptomatic patient for these diseases is relatively easy - You have the mutation? Then you are at risk. Complex diseases, on the other hand, do not have a clear mutational footprint.

30 Aug 2017

Stabilizing TREM2 could be viable therapeutic strategy to combat Alzheimer's disease

A gene called triggering receptor expressed on myeloid cells 2, or TREM2, has been associated with numerous neurodegenerative diseases, such as Alzheimer's disease, Frontotemporal lobar degeneration, Parkinson's disease, and Nasu-Hakola disease. Recently, a rare mutation in the gene has been shown to increase the risk for developing Alzheimer's disease.

30 Aug 2017

Research may lead to first-ever pharmacological treatment for rare genetic bone disease

Scientists at Children's Hospital of Philadelphia report that a drug candidate that blocks abnormal protein signals may lead to the first pharmacologic treatment for hereditary multiple exostoses (HME), a rare pediatric genetic disease.

29 Aug 2017

Research reveals LEGO-like stacking of protein complexes

When hemoglobin undergoes just one mutation, the protein complexes stick to one another, stacking like LEGO blocks to form long, stiff filaments.

29 Aug 2017

Mutation News and Research

Prostate Cancer Awareness Month: Myriad Genetics working to educate public about hereditary cancer risk assessment

Combination therapy found to be effective adjuvant treatment option in melanoma patients

A rare dementia gene runs in the family, but he’s fine — so far

Generation Genome: the UK’s genetics revolution?

Combination immunotherapy as second or third line treatment of mesothelioma shows promising results

LORELEI trial: Treatment with alpha specific PI3K inhibitor reduces breast tumor size

Newly-discovered mutation highlights complex genetic network that underpins blood disorder

Exploration of human genetics reveals new targets to combat heart disease

Scientists win new funding to speed up translation of MS research into practice

Japanese scientists uncover new genetic marker for schizophrenia

Combined DNA and protein 'liquid biopsy' more accurate in identifying early-stage pancreatic cancer

Mutations altering gene function play role in development of intellectual disabilities

Researchers perform first-ever clinical trial involving genetic screening for Parkinson’s disease

Scientists question CRISPR human embryo editing claims

Study identifies unexpected mosaic mutations as new risk factor for developing autism

New method of genetic testing leads to successful targeting of MET fusion in lung cancer

Potential rare gene mutation could act as predictor for schizophrenia and autism

Stabilizing TREM2 could be viable therapeutic strategy to combat Alzheimer's disease

Research may lead to first-ever pharmacological treatment for rare genetic bone disease

Research reveals LEGO-like stacking of protein complexes

Industry Focus eBook - Forensics & toxicology (2nd edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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