Mutation News and Research

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Random DNA copying ‘mistakes’ account for most cancer mutations, study finds

Johns Hopkins Kimmel Cancer Center scientists report data from a new study providing evidence that random, unpredictable DNA copying "mistakes" account for nearly two-thirds of the mutations that cause cancer.

24 Mar 2017

OTUD6B gene mutations linked to physical and intellectual deficits

An international team of researchers from institutions around the world, including Baylor College of Medicine, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits.

24 Mar 2017

Inner ear gene therapy holds promise for treating patients with hearing loss and dizziness

In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders and Johns Hopkins University School of Medicine showed that gene therapy was able to restore balance and hearing in genetically modified mice that mimic Usher Syndrome, a genetic condition in humans characterized by partial or total hearing loss, dizziness, and vision loss that worsens over time.

23 Mar 2017

EPFL scientists develop synthetic methods to crack code of Huntington's disease

Huntington's disease is a neurodegenerative disorder that causes patients to lose their ability to move, speak, and even think. It is caused by a gene mutation that produces an abnormal form of the protein huntingtin, which aggregates and builds up inside neurons of the cortex and striatum.

23 Mar 2017

MSU lands $727,000 NIH grant to improve use of fish as disease models for human medicine

Michigan State University has landed a $727,000 grant from the National Institutes of Health to improve the use of fish as disease models for human medicine.

23 Mar 2017

Study finds steady increase in BRCA testing among low-risk women

Discovery of the BRCA genetic mutation in the mid-90s represented a breakthrough in breast and ovarian cancer prevention. About 5-10% of breast cancer cases and 10-18% of ovarian cancer cases can be attributed to two BRCA mutations.

23 Mar 2017

UC researchers advocate ‘precision medicine’ approach to studying and treating Parkinson's disease

Two landmark publications with one or more co-authors from the University of Cincinnati Gardner Neuroscience Institute outline a transformative approach to defining, studying and treating Parkinson's disease.

22 Mar 2017

RUB researchers identify new rare muscle disorder

A new rare muscle disorder has been identified by researchers at Ruhr-Universität Bochum. This hereditary disease is caused by a defect in the BICD2 gene that manifests itself in altered cellular transport processes in skeletal muscle cells.

22 Mar 2017

Researchers uncover gene mutation that may provide answers to unexplained female infertility

Researchers at Baylor College of Medicine, Texas Children's Hospital and Rice University have uncovered a gene mutation that may provide answers to unexplained female infertility. The study appears in Scientific Reports, a member of the Nature family of journals.

22 Mar 2017

USC study close to finding gene involved in cleft lip and palate

A group of researchers has found that three siblings born with cleft lip and palate share a common gene mutation associated with the birth defect.

22 Mar 2017

New study correlates 80 cancer-related gene mutations with 34 AML subgroups

A large, new study of adults with acute myeloid leukemia (AML) correlates 80 cancer-related gene mutations with five subtypes of AML, which are defined by the presence of specific chromosomal abnormalities. The findings might help guide mutation testing and treatment decisions in the future.

21 Mar 2017

Parasitic fish offers unique insights into evolution of gut neurons in ancient vertebrates

Lamprey are slimy, parasitic eel-like fish, one of only two existing species of vertebrates that have no jaw. While many would be repulsed by these creatures, lamprey are exciting to biologists because they are so primitive, retaining many characteristics similar to their ancient ancestors and thus offering answers to some of life's biggest evolutionary questions

21 Mar 2017

Research findings hold promise to generate blood cell precursors from hPSCs

The Galat laboratory at Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, has developed an elegant system to derive blood cell precursors from human pluripotent stem cells (hPSC).

21 Mar 2017

Researchers develop new method that uses gene editing to find cancer's weak spots

Genetic mutations that cause cancer also weaken cancer cells, creating an opportunity for researchers to develop drugs that will selectively kill them, while sparing normal cells.

20 Mar 2017

Resurgent outbreak of avian influenza underscores need for control efforts at animal source

A resurgent outbreak of a new strain of avian influenza that can be lethal for humans underscores the need for robust and rapid detection and response systems at animal source.

20 Mar 2017

Genetic mutations underlying treatment resistance in NSCLC more dynamic than previously thought

The genetic mutations underlying treatment resistance in non-small cell lung cancer (NSCLC) are more complex and dynamic than previously thought.

17 Mar 2017

High-resolution images of protein complex performing first step in genome-replication dance captured

It's a good thing we don't have to think about putting all the necessary pieces in place when one of our trillions of cells needs to duplicate its DNA and then divide to produce identical daughter cells.

17 Mar 2017

Scientists identify new toxic pathway for protein aggregates in ALS and FTLD

Led by professor Ludo Van Den Bosch, scientists from Belgium, the UK and the US have identified new processes that form protein "clumps" that are characteristic of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD).

17 Mar 2017

The Sohn Conference Foundation funds research to advance understanding of how pediatric cancer metastasizes

The Sohn Conference Foundation today unveiled the Sohn Collaborative for Liquid Biopsy at Weill Cornell Medicine to develop a blood test that will predict how cancer spreads in both children and adults.

17 Mar 2017

Penn studies provide new understanding of lung cancer progression and prevention

Treating the brain with a preventative course of radiation may help Small Cell Lung Cancer (SCLC) patients - whose tumors often spread to their brain -- live longer, according to a new study from researchers in the Abramson Cancer Center and Perelman School of Medicine at the University of Pennsylvania.

16 Mar 2017

Mutation News and Research

Random DNA copying ‘mistakes’ account for most cancer mutations, study finds

OTUD6B gene mutations linked to physical and intellectual deficits

Inner ear gene therapy holds promise for treating patients with hearing loss and dizziness

EPFL scientists develop synthetic methods to crack code of Huntington's disease

MSU lands $727,000 NIH grant to improve use of fish as disease models for human medicine

Study finds steady increase in BRCA testing among low-risk women

UC researchers advocate ‘precision medicine’ approach to studying and treating Parkinson's disease

RUB researchers identify new rare muscle disorder

Researchers uncover gene mutation that may provide answers to unexplained female infertility

USC study close to finding gene involved in cleft lip and palate

New study correlates 80 cancer-related gene mutations with 34 AML subgroups

Parasitic fish offers unique insights into evolution of gut neurons in ancient vertebrates

Research findings hold promise to generate blood cell precursors from hPSCs

Researchers develop new method that uses gene editing to find cancer's weak spots

Resurgent outbreak of avian influenza underscores need for control efforts at animal source

Genetic mutations underlying treatment resistance in NSCLC more dynamic than previously thought

High-resolution images of protein complex performing first step in genome-replication dance captured

Scientists identify new toxic pathway for protein aggregates in ALS and FTLD

The Sohn Conference Foundation funds research to advance understanding of how pediatric cancer metastasizes

Penn studies provide new understanding of lung cancer progression and prevention

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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