Mutation News and Research

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Scientists aim to develop new ointment that could reduce risks of primary skin cancer

Scientists from Far Eastern Federal University, V.I. Vernadsky Crimean Federal University, Dmitry Mendeleev University of Chemical Technology, and Far Eastern Branch of the Russian Academy of Sciences, assumed the risks of primary skin cancer and its recurrences can be significantly reduced by applying the ointment with antisense oligonucleotides which are short DNA, RNA fragments used in oncology to suppress the synthesis of tumor proteins.

3 Jul 2019

Copper compound with potential as therapy for ALS shows further promise

A compound with potential as a treatment for ALS has gained further promise in a new study that showed it improved the condition of mice whose motor neurons had been damaged by an environmental toxin known to cause features of ALS.

2 Jul 2019

Study urges genetic testing before abdominal-based free-flap breast reconstruction

For women with breast cancer who opt for breast reconstruction using a tissue flap from the abdomen, gene testing for high-risk mutations should be performed before surgery, concludes a report in the July issue of Plastic and Reconstructive Surgery, the official medical journal of the American Society of Plastic Surgeons

2 Jul 2019

Gene mutations may not always predict cardiomyopathy

More than 750,000 people in the United States have dilated cardiomyopathy, a potentially life-threatening condition in which the heart's main pumping chamber, the left ventricle, enlarges and grows increasingly weak.

2 Jul 2019

Scientists identify new genetic mutation behind serious skull disorder

A collaboration led by scientists at Oregon State University, the University of Oxford in the United Kingdom and Erasmus University in The Netherlands has identified a new genetic mutation behind the premature fusing of the bony plates that make up the skull.

2 Jul 2019

Gene mutation discovery leads to novel treatment for patient with severe lymphatic condition

Faced with a preteen boy in pain and struggling to breathe from a severe, deteriorating rare condition, researchers at Children's Hospital of Philadelphia identified the responsible gene mutation and harnessed that knowledge to develop a novel treatment that dramatically improved the problem.

2 Jul 2019

Protein Clumps In ALS Neurons Provide Potential Target For New Therapies

Amyotrophic lateral sclerosis is a neurological condition that affects motor neurons -- the nerve cells that control breathing and muscles.

2 Jul 2019

Scientists unravel how cells unfold proteins

A happy cell is a balanced cell, but for every stupendously twisted protein it creates, it must tear the old ones asunder. That means untangling a convoluted pretzel-like mass for recycling. Cdc48 plays a critical role in unraveling the spent proteins.

29 Jun 2019

Study uncovers new way to identify driver genes important for cancer progression

Until now, researchers believed recurrent mutations (hotspot mutations) in cancer tumors were the important mutations (driver mutations) that promoted cancer progression.

29 Jun 2019

Study finds new cancer driver which is fast, furious and loud

The Fast and the Furious movie franchise meets the Fast N' Loud television series to define an oncogene that drives 35% of prostate cancers.

27 Jun 2019

Scientists suggest possible cell-based therapy for premature infants with rare lung condition

Researchers suggest a possible cell-based therapy to stimulate lung development in fragile premature infants who suffer from a rare condition called Bronchopulmonary Dysplasia, which in the most severe cases can lead to lifelong breathing problems and even death.

27 Jun 2019

Researchers identify missing link between amyloid plaques and tau tangles in Alzheimer's

Years before symptoms of Alzheimer's disease appear, two kinds of damaging proteins silently collect in the brain: amyloid beta and tau. Clumps of amyloid accumulate first, but tau is particularly noxious.

25 Jun 2019

MSK receives approval for new molecular assay from New York State Department of Health

Memorial Sloan Kettering Cancer Center announced that the New York State Department of Health has issued an approval for a new molecular assay called Analysis of Circulating cfDNA to Evaluate Somatic Status.

24 Jun 2019

FDA expands approval of cystic fibrosis treatment to include pediatric patients as young as 6 years old

The U.S. Food and Drug Administration today expanded the indication for Symdeko (a combination of tezacaftor/ivacaftor) tablets for treatment of pediatric patients ages 6 years and older with cystic fibrosis who have certain genetic mutations.

22 Jun 2019

New mutation discovered in the leptin gene

The global obesity epidemic is so far-reaching it now has an overarching name: globesity. Texas Biomed Staff Scientist Raul Bastarrachea, M.D., is part of a team that discovered a new mutation in the gene that regulates the key hormone suppressing hunger called leptin.

22 Jun 2019

Molecular virologist receives nearly $2 million NIH grant renewal to study hepatitis E virus

For decades, University Distinguished Professor of Molecular Virology X.J. Meng and his lab at the Virginia-Maryland College of Veterinary Medicine have studied hepatitis E virus (HEV), the causative agent of hepatitis E in humans.

21 Jun 2019

New study points out simple problem with existing model of cancer

The saying "God doesn't play dice" is meant to suggest that nothing happens by chance. On the other hand, cancer seems like the ultimate happenstance: Don't we all have a 43-year-old, vegan, triathlete friend fighting cancer? Does this mean that cancer plays dice?

21 Jun 2019

Bad gene associated with sudden death in epilepsy and breathing problems

In sudden death in epilepsy, people stop breathing for no apparent reason and die. Now, a group of UConn neuroscientists have a lead as to why, they report in the journal eLife.

21 Jun 2019

Scientists identify early signs of Parkinson’s disease years before symptoms develop

Scientists have identified the earliest signs of Parkinson’s disease in the brain up to 20 years before patients present with any symptoms.

20 Jun 2019

New biological mechanism may explain heightened somatic awareness

An international team spearheaded by researchers at McGill University has discovered a biological mechanism that could explain heightened somatic awareness, a condition where patients experience physical discomforts for which there is no physiological explanation.

20 Jun 2019

Mutation News and Research

Scientists aim to develop new ointment that could reduce risks of primary skin cancer

Copper compound with potential as therapy for ALS shows further promise

Study urges genetic testing before abdominal-based free-flap breast reconstruction

Gene mutations may not always predict cardiomyopathy

Scientists identify new genetic mutation behind serious skull disorder

Gene mutation discovery leads to novel treatment for patient with severe lymphatic condition

Protein Clumps In ALS Neurons Provide Potential Target For New Therapies

Scientists unravel how cells unfold proteins

Study uncovers new way to identify driver genes important for cancer progression

Study finds new cancer driver which is fast, furious and loud

Scientists suggest possible cell-based therapy for premature infants with rare lung condition

Researchers identify missing link between amyloid plaques and tau tangles in Alzheimer's

MSK receives approval for new molecular assay from New York State Department of Health

FDA expands approval of cystic fibrosis treatment to include pediatric patients as young as 6 years old

New mutation discovered in the leptin gene

Molecular virologist receives nearly $2 million NIH grant renewal to study hepatitis E virus

New study points out simple problem with existing model of cancer

Bad gene associated with sudden death in epilepsy and breathing problems

Scientists identify early signs of Parkinson’s disease years before symptoms develop

New biological mechanism may explain heightened somatic awareness

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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