Mutation News and Research

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Researchers develop new technique to locate pathogenic mutations in dark, non-coding genome

When doctors can't find a diagnosis for patient's disease, they turn to genetic detectives. Equipped with genomic sequencing technologies available for less than 10 years, these sleuths now routinely search through a patient's DNA looking for mutations responsible for mysterious diseases.

11 Aug 2017

Researcher receives NIH grant to study genetic mutation that prevents tooth formation

Inherited genetic mutations can rob up to 7 percent of the population of their smile. Several genes are important for the placement and patterning of teeth.

9 Aug 2017

JAX receives new federal research grant to study mouse models of ALS

A new five-year federal research grant totaling $3,322,009 to The Jackson Laboratory (JAX) will fund studies of a new mouse model for amyotrophic lateral sclerosis (ALS).

4 Aug 2017

Neuroscientists uncover genetic basis for formation of meningiomas in childhood cancer survivors

Neuroscientists have uncovered the genetic basis for why many long-term survivors of childhood cancer develop meningiomas, the most common adult brain tumor, decades after their treatment with cranial radiation.

4 Aug 2017

Molecular tests that detect drug-resistant TB may become faster alternative to traditional testing

Novel molecular tests are gaining popularity as a rapid way to detect genetic mutations that render tuberculosis impervious to drugs. Yet, how well these new tests fare in gauging risk of actual drug failure and patient death has remained unclear.

4 Aug 2017

Study sheds new light on how anti-cancer agent inhibits tumor growth

Researchers at Sanford Burnham Prebys Medical Discovery Institute have published a study in Nature Communications shedding new light on how K-80003 (TX803), an anti-cancer agent discovered at the Institute, prevents activation of the PI3K pathway, resulting in inhibition of cancer cell growth.

4 Aug 2017

Researchers identify new genetic mutation that prevents sperm production

Researchers at Ben-Gurion University of the Negev and Soroka University Medical Center in Beer-Sheva, Israel have discovered a new genetic mutation that prevents sperm production.

3 Aug 2017

Gene-therapy administered through skin transplants could enable treatment of many diseases

A research team based at the University of Chicago has overcome challenges that have limited gene therapy and demonstrated how their novel approach with skin transplantation could enable a wide range of gene-based therapies to treat many human diseases.

3 Aug 2017

Study reveals biological basis of severe neurological disorder in children

In a new study published today in The American Journal of Human Genetics, a multinational team of researchers describes, for the first time, the biological basis of a severe neurological disorder in children.

3 Aug 2017

Study shows new method for repairing disease-causing mutation in human embryos

Scientists have demonstrated an effective way of using a gene-editing tool to correct a disease-causing gene mutation in human embryos and stop it from passing to future generations.

3 Aug 2017

Researchers ferreting out patients most likely to become resistant to cancer treatment

According to the National Cancer Institute, the number of people beating a cancer diagnosis reached nearly 14.5 million in 2014 and is expected to rise to almost 19 million by 2024. Now, that's good news, but it doesn't mean that cancer researchers - in the lab or clinic - are resting on any laurels.

2 Aug 2017

Research shows great potential of embryonic gene editing to prevent inherited diseases

Scientists have, for the first time, corrected a disease-causing mutation in early stage human embryos with gene editing.

2 Aug 2017

Researchers examine affected canines to help develop effective treatment for children with rare epilepsy

The research, published in PLOS ONE, has identified the progression of Lafora disease, a devastating form of epilepsy which affects up to 50 young children worldwide.

2 Aug 2017

Kinase-inactive BRAF mutation triggers lung adenocarcinoma development

The initiating oncogenic event in almost half of human lung adenocarcinomas is still unknown, a fact that complicates the development of selective targeted therapies.

2 Aug 2017

Drug puts a $750,000 ‘price tag on life’

Jana Gundy and Amanda Chaffin live within two hours of each other in Oklahoma. Each has a child with the same devastating disease, one that robs them of muscle strength, affecting their ability to sit, stand or even breathe.

2 Aug 2017

$New drug Idhifa for patients with refractory acute myeloid leukemia (AML) gets FDA nod$

New drug Idhifa for patients with refractory acute myeloid leukemia (AML) gets FDA nod

The U.S. Food and Drug Administration (FDA) in a statement yesterday reported its approval for a new drug, Idhifa (enasidenib) for the treatment of acute myeloid leukemia (AML) in adults that has either relapsed or is refractory to standard chemotherapy.

2 Aug 2017

Scientist offers evidence to challenge mutation accumulation theory of oncogenesis

What causes cancer? Smoking, certainly, and also things like sun and chemical exposure. Cancer risk also increases with some genetic predispositions and in old age.

1 Aug 2017

HIV hides in more types of bone marrow cells than previously thought, research shows

Every day, 17 million HIV-infected people around the world swallow pills that keep the virus inside them at bay.

1 Aug 2017

Researchers reveal new type of sweat test for better CF diagnosis

Cystic fibrosis (CF) is an incurable genetic disease in which patients have chronic lung infections. The sooner CF is diagnosed, the better the symptoms can be managed.

31 Jul 2017

Small-molecule drug improves brain performance in mouse model of Rett syndrome

After learning that a small-molecule drug improves breathing in a mouse model of the neurodevelopmental disorder Rett syndrome, University of Alabama at Birmingham researcher Lucas Pozzo-Miller, Ph.D., wondered if he could test it on other brain functions.

28 Jul 2017

Mutation News and Research

Researchers develop new technique to locate pathogenic mutations in dark, non-coding genome

Researcher receives NIH grant to study genetic mutation that prevents tooth formation

JAX receives new federal research grant to study mouse models of ALS

Neuroscientists uncover genetic basis for formation of meningiomas in childhood cancer survivors

Molecular tests that detect drug-resistant TB may become faster alternative to traditional testing

Study sheds new light on how anti-cancer agent inhibits tumor growth

Researchers identify new genetic mutation that prevents sperm production

Gene-therapy administered through skin transplants could enable treatment of many diseases

Study reveals biological basis of severe neurological disorder in children

Study shows new method for repairing disease-causing mutation in human embryos

Researchers ferreting out patients most likely to become resistant to cancer treatment

Research shows great potential of embryonic gene editing to prevent inherited diseases

Researchers examine affected canines to help develop effective treatment for children with rare epilepsy

Kinase-inactive BRAF mutation triggers lung adenocarcinoma development

Drug puts a $750,000 ‘price tag on life’

New drug Idhifa for patients with refractory acute myeloid leukemia (AML) gets FDA nod

Scientist offers evidence to challenge mutation accumulation theory of oncogenesis

HIV hides in more types of bone marrow cells than previously thought, research shows

Researchers reveal new type of sweat test for better CF diagnosis

Small-molecule drug improves brain performance in mouse model of Rett syndrome

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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