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UCLA researchers reveal reversibility of Friedreich's ataxia in mouse models

In children and adults with Friedreich's ataxia, an inherited disease that causes damage to the nervous system, a loss of coordination typically progresses to muscle weakness and can involve vision, diabetes, and other problems over the course of several years.

20 Dec 2017

Scientists develop test to predict treatment outcomes in patients with childhood leukemia

UC San Francisco physician-scientists have developed a test that can predict how patients with juvenile myelomonocytic leukemia (JMML) will respond to treatment, and may also be able to identify patients who are likely to recover spontaneously with little to no treatment.

19 Dec 2017

FDA approves new gene therapy targeting rare form of inherited vision loss

The U.S. Food and Drug Administration today approved Luxturna (voretigene neparvovec-rzyl), a new gene therapy, to treat children and adult patients with an inherited form of vision loss that may result in blindness.

19 Dec 2017

Treatment for skin cancer could be more effective if combined with arthritis drug

Treatment for the most deadly form of skin cancer could be more effective if combined with a well-known drug for rheumatoid arthritis, new research has shown.

19 Dec 2017

Mutational patterns could identify breast cancer patients most likely to respond to platinum-based chemotherapy

The presence in advanced breast cancer of mutational signatures characteristic of homologous recombination deficiency (HRD) was associated with improved clinical outcomes to treatment with platinum-based chemotherapy.

19 Dec 2017

Moderate exercise reduces progression of Marfan syndrome symptoms in mice

Regular physical activity is a common therapy for people with cardiovascular problems, but not recommended to those with Marfan syndrome, a rare disease of the connective tissue, but mainly affecting the cardiovascular system.

18 Dec 2017

Gene that could be associated with reduced pain response found

Researchers found an Italian family, the Marsilis that have six individuals who respond significantly differently to pain than others. This includes a 78-year-old lady and her two daughters and their three children.

18 Dec 2017

Prostate cancer researchers find significant disparities between two liquid biopsy providers

Two Johns Hopkins prostate cancer researchers found significant disparities when they submitted identical patient samples to two different commercial liquid biopsy providers.

15 Dec 2017

Rare gene mutation gives rise to low sensitivity to pain

Researchers at University College London have identified a rare gene mutation in an Italian family who have little sensitivity to some forms of pain. Chronic pain caused by conditions such as lower back pain and osteoarthritis is one of the most prominent causes of disability worldwide, as assessed by the Global Burden of Disease reviews.

15 Dec 2017

Researchers examine link between tumor mutational burden and response to immune checkpoint therapy

Predicting how patients will respond to anti-cancer therapies can be vital in informing clinical decisions and improving treatment outcome.

15 Dec 2017

Human ‘common cold’ virus kills healthy chimpanzees in Uganda

In the wild, chimpanzees face any number of dire threats, ranging from poachers to predators to deforestation.

13 Dec 2017

Targeted lung cancer treatments may benefit smokers and non-smokers alike

Smokers are less likely than non-smokers to have lung cancers caused by targetable genetic changes. But a study published this week in the journal Clinical Cancer Research shows that when they do, smokers benefit just as much as non-smokers from targeted treatments.

13 Dec 2017

Pitting pathogens against each other could prevent drug resistance emerging

Limiting the nutrient resources that pathogens depend on for replication could prevent the emergence of drug resistance, according to research findings. In a study published in Proceedings of the National Academy of Sciences, scientists have taken advantage of the competition that occurs between host pathogens to achieve successful treatment of infection with existing drugs, even when drug-resistant pathogens were present.

12 Dec 2017

Researchers identify promising solution for improving cystic fibrosis treatments

Researchers at the University of Montreal Hospital Research Centre have identified a promising solution to improving treatments offered to patients with cystic fibrosis.

12 Dec 2017

Newly discovered molecular chaperones may soon be part of therapies for Huntington's disease

Huntington's disease is a neurodegenerative disease. It is always fatal. The disease is caused by a defect in the Huntingtin gene. To this day, no therapy will put a stop to the insidious disintegration of brain cells.

12 Dec 2017

Study: Combination targeted therapy has high response rates in AML patients

Initial findings from a multi-national open-label phase Ib study of inhibitory drug therapy for relapsed or refractory acute myeloid leukemia (AML) have demonstrated a complete response in up to 50 percent patients say researchers at The University of Texas MD Anderson Cancer Center.

11 Dec 2017

St. Jude gene therapy offers hope for infants with 'bubble boy' disease

Early evidence suggests that gene therapy developed at St. Jude Children's Research Hospital will lead to broad protection for infants with the devastating immune disorder X-linked severe combined immunodeficiency disorder.

11 Dec 2017

Bi-annual MRI beats mammograms in detecting breast cancer among women with genetic risk

Intensive surveillance including a dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) exam every six months was far more effective in detecting breast cancer in younger women with a high-risk genetic profile than an annual mammogram, according to a research team based at the University of Chicago Medicine and the University of Washington, Seattle.

11 Dec 2017

Salk scientists unravel mystery about how the spinal cord deals with different information

We think of our brain as masterminding all of our actions, but a surprising amount of information related to movement gets processed by our spinal cord.

8 Dec 2017

Study finds mechanism of resistance to checkpoint inhibitors and way to reverse it

Researchers have discovered a mechanism of resistance to checkpoint inhibitors and how to reverse it. The biomarker results from the IMvigor210 study are reported at the ESMO Immuno Oncology Congress 2017.

8 Dec 2017

Mutation News and Research

UCLA researchers reveal reversibility of Friedreich's ataxia in mouse models

Scientists develop test to predict treatment outcomes in patients with childhood leukemia

FDA approves new gene therapy targeting rare form of inherited vision loss

Treatment for skin cancer could be more effective if combined with arthritis drug

Mutational patterns could identify breast cancer patients most likely to respond to platinum-based chemotherapy

Moderate exercise reduces progression of Marfan syndrome symptoms in mice

Gene that could be associated with reduced pain response found

Prostate cancer researchers find significant disparities between two liquid biopsy providers

Rare gene mutation gives rise to low sensitivity to pain

Researchers examine link between tumor mutational burden and response to immune checkpoint therapy

Human ‘common cold’ virus kills healthy chimpanzees in Uganda

Targeted lung cancer treatments may benefit smokers and non-smokers alike

Pitting pathogens against each other could prevent drug resistance emerging

Researchers identify promising solution for improving cystic fibrosis treatments

Newly discovered molecular chaperones may soon be part of therapies for Huntington's disease

Study: Combination targeted therapy has high response rates in AML patients

St. Jude gene therapy offers hope for infants with 'bubble boy' disease

Bi-annual MRI beats mammograms in detecting breast cancer among women with genetic risk

Salk scientists unravel mystery about how the spinal cord deals with different information

Study finds mechanism of resistance to checkpoint inhibitors and way to reverse it

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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