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AAN announces winners of 2016 Neuro Film Festival

The American Academy of Neurology is pleased to announce the winning entries to the 2016 Neuro Film Festival.

10 Jul 2016

Scientists identify epigenetic alterations involved in autoinflammatory diseases

Researchers from the Chromatin and Disease group of the Bellvitge Biomedical Research Institute, led by Dr. Esteban Ballestar, have identified for the first time epigenetic alterations in autoinflammatory diseases, particularly in cryopyrin-associated periodic syndromes (CAPS).

8 Jul 2016

Moffitt researchers discover novel way to control SETDB1 protein upregulated in cancer

Cancer is a group of more than 100 different diseases. All are driven by cells and genes that escape the normal process of division and begin their own plan to replicate in the body.

8 Jul 2016

Scientists identify set of genes that could predict clinical outcomes in patients with FLT3-ITD AML

Researchers from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore have identified a set of genes, including DNMT3A, that could potentially be used to predict clinical outcomes of patients who suffer from a type of Acute Myeloid Leukemia (AML) associated with an FLT3 internal tandem duplication (FLT3-ITD) mutation.

8 Jul 2016

Germline genetic testing necessary for men with metastatic prostate cancer

Men with metastatic prostate cancer should be considered for germline genetic testing of DNA repair genes, regardless of age or family history, according to a team of researchers from Memorial Sloan Kettering Cancer Center, Fred Hutchinson Cancer Research Center, Dana-Farber Cancer Institute, University of Washington School of Medicine, University of Michigan, and the Institute of Cancer Research Royal Marsden Hospital.

8 Jul 2016

Study shows miR-19 helps new neurons in the adult brain stay on track

A small stretch of ribonucleic acid called microRNA could make the difference between a healthy adult brain and one that's prone to disorders including schizophrenia.

8 Jul 2016

Study identifies genetic mutations responsible for development of cardiac hypertrophy in adults

Investigators at Beth Israel Deaconess Medical Center have identified a developmental cause of adult-onset cardiac hypertrophy, a dangerous thickening of the heart muscle that can lead to heart failure and death.

8 Jul 2016

Scientists use stem cell techniques to unravel biology of autism

The brains of some people with autism spectrum disorder grow faster than usual early on in life, often before diagnosis.

8 Jul 2016

Tumor DNA fragments in blood can help identify risk of colorectal cancer recurrence

Ludwig researchers working in collaboration with colleagues in Australia and the US have shown that fragments of tumor DNA circulating in the blood can be used to gauge the risk of colorectal cancer recurrence and the efficacy of chemotherapy following surgery.

7 Jul 2016

New genetic test provides rapid diagnosis of mitochondrial disease

Newcastle researchers have developed a genetic test providing a rapid diagnosis of mitochondrial disorders to identify the first patients with inherited mutations in a new disease gene.

7 Jul 2016

Inherited mutations in DNA repair genes may predispose to metastatic prostate cancer

Inherited mutations in genes that function to repair DNA may contribute to metastatic prostate cancer more than previously recognized, according to a study out today in the New England Journal of Medicine.

7 Jul 2016

New ESMO guidelines reflect personalized approach for management of metastatic colorectal cancer

ESMO, the leading European professional organisation for medical oncology, has released new consensus guidelines for the management of metastatic colorectal cancer that reflect an increasingly personalized approach to treatment, as published online today in Annals of Oncology.

7 Jul 2016

Minoryx Therapeutics initiates phase 1 clinical trial of MIN-102

Minoryx Therapeutics, a drug development company specialized in the discovery and development of new drugs for orphan diseases, today announces the initiation of its first-in-man Phase 1 clinical trial for its lead compound MIN-102.

7 Jul 2016

Genetic test detects colon cancer-linked DNA in blood to predict disease recurrence risk

Scientists at the Johns Hopkins Kimmel Cancer Center and University of Melbourne report they have used a genetic test that spots bits of cancer-related DNA circulating in the blood to accurately predict the likelihood of the disease's return in some — but not all — of a small group of patients with early-stage colon cancer.

7 Jul 2016

Added benefit of idelalisib drug not proven for patients with CLL

Already in 2014, the German Institute for Quality and Efficiency in Health Care examined in an early benefit assessment whether idelalisib offers advantages over the appropriate comparator therapy for patients with chronic lymphocytic leukaemia (CLL).

6 Jul 2016

Whole-genome omics data can improve accuracy of breast cancer survival predictions

Precise predictions of whether a tumor is likely to spread would help clinicians and patients choose the best course of treatment. But current methods fall short of the precision needed.

6 Jul 2016

Scientists discover X-chromosome-inherited type of osteogenesis imperfecta

Researchers from the University of Zurich and University Children's Hospital Zurich have discovered the first X-chromosome-inherited type of the congenital disease osteogenesis imperfecta, also known as brittle-bone disease.

6 Jul 2016

New lung-targeted gene therapy shows promise in improving treatment for emphysema

Researchers have developed a new strategy using lung-targeted gene therapy that may lead to improved treatments for inherited diseases including emphysema.

6 Jul 2016

Researchers identify potential biomarker for Parkinson's disease in biobanked urine samples

For more than five years, urine and cerebral-spinal fluid samples from patients with Parkinson's disease have been locked in freezers in the NINDS National Repository, stored with the expectation they might someday help unravel the still-hidden course of this slow-acting neurodegenerative disease.

6 Jul 2016

Researchers identify astroglia-mediated mechanism for causing FXS symptoms in mice

A study published today in the Journal of Neuroscience led by Yongjie Yang of Tufts University School of Medicine identifies an astroglial trigger mechanism as contributing to symptoms of fragile X syndrome in mice.

6 Jul 2016

Mutation News and Research

AAN announces winners of 2016 Neuro Film Festival

Scientists identify epigenetic alterations involved in autoinflammatory diseases

Moffitt researchers discover novel way to control SETDB1 protein upregulated in cancer

Scientists identify set of genes that could predict clinical outcomes in patients with FLT3-ITD AML

Germline genetic testing necessary for men with metastatic prostate cancer

Study shows miR-19 helps new neurons in the adult brain stay on track

Study identifies genetic mutations responsible for development of cardiac hypertrophy in adults

Scientists use stem cell techniques to unravel biology of autism

Tumor DNA fragments in blood can help identify risk of colorectal cancer recurrence

New genetic test provides rapid diagnosis of mitochondrial disease

Inherited mutations in DNA repair genes may predispose to metastatic prostate cancer

New ESMO guidelines reflect personalized approach for management of metastatic colorectal cancer

Minoryx Therapeutics initiates phase 1 clinical trial of MIN-102

Genetic test detects colon cancer-linked DNA in blood to predict disease recurrence risk

Added benefit of idelalisib drug not proven for patients with CLL

Whole-genome omics data can improve accuracy of breast cancer survival predictions

Scientists discover X-chromosome-inherited type of osteogenesis imperfecta

New lung-targeted gene therapy shows promise in improving treatment for emphysema

Researchers identify potential biomarker for Parkinson's disease in biobanked urine samples

Researchers identify astroglia-mediated mechanism for causing FXS symptoms in mice

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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