Mutation News and Research

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Study shows why certain genetically predisposed individuals do not develop heart disease

Life can change dramatically when someone learns they are genetically predisposed to a disease, such as a condition called familial hypercholesterolemia, where a mutated gene can lead to elevated cholesterol and increased risk for a premature heart attack.

20 Aug 2020

Could the high rate of mutations bring about SARS-CoV-2's extinction in India?

A new study published on the preprint server bioRxiv in August 2020 shows the importance of uncovering the dynamics of the virus with particular attention to geographic variation.

19 Aug 2020

Study investigates onset of spinocerebellar ataxia associated with loss of motor coordination

A European research alliance tracks the onset of ataxias "Spinocerebellar ataxias" are diseases of the nervous system associated with a loss of motor coordination.

19 Aug 2020

Study shows how bats survive the Ebola virus

A new study by researchers from The University of Texas Medical Branch at Galveston uncovered new information on why the Ebola virus can live within bats without causing them harm, while the same virus wreaks deadly havoc to people. This study is now available in Cell Reports.

19 Aug 2020

RNA-based therapeutic approach holds promise as potential cure for hereditary diseases

ETH Zurich scientists have developed an RNA molecule that can be used in bone marrow cells to correct genetic errors that affect protein production.

18 Aug 2020

Combination therapy effective for patients with cholangiocarcinoma marked by BRAF mutations

In a Phase II trial led by researchers at The University of Texas MD Anderson Cancer Center, the combination of dabrafenib, a BRAF inhibitor, and trametinib, a MEK inhibitor, achieved a 51% overall response rate (ORR) in patients with cholangiocarcinoma marked by the BRAF V600E mutation.

18 Aug 2020

Researchers identify shared molecular roots between lipid dysfunction and autism

Researchers at Harvard Medical School, Massachusetts Institute of Technology and Northwestern University have identified a subtype of autism arising from a cluster of genes that regulate cholesterol metabolism and brain development.

18 Aug 2020

SARS-CoV-2 poses significant threat to many marine mammal species

A new study conducted by researchers at Dalhousie University in Halifax, Canada, has found that many species of marine mammal are highly vulnerable to infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the agent that causes coronavirus disease 2019 (COVID-19).

17 Aug 2020

Genome analysis helps detect 568 genes that drive cancer

Analysis of the genomes of 28,000 tumors from 66 types of cancer has led to the identification of 568 cancer driver genes

17 Aug 2020

Scientists hope to find clues about how life emerged by tinkering with its oldest components

"I'm fascinated with life, and that's why I want to break it."

15 Aug 2020

UD researchers gain new insights into hepatitis B virus' genetic blueprint

Researchers at the University of Delaware, using supercomputing resources and collaborating with scientists at Indiana University, have gained new understanding of the virus that causes hepatitis B and the "spiky ball" that encloses the virus's genetic blueprint.

13 Aug 2020

Tiny packages of materials released by tumors may serve as biomarkers for detecting cancers

Because cancer is easier to successfully treat when it's caught early, a major goal in cancer research is to develop new ways to find tumors at early stages, before they start to spread.

13 Aug 2020

Research reveals how quickly pre-cancerous skin lesions can form on the DNA

Luis Ortiz-Rodríguez grew up on the beaches of Puerto Rico--surfing, swimming and running in the hot sand--and swears he had never put on sunblock a day in his life.

13 Aug 2020

Discoveries point to a new potential treatment approach for fatal childhood brain tumor

Progress against DIPG, a fatal childhood brain tumor, is usually a game of inches. Studies that hint at even small gains are cause for celebration.

13 Aug 2020

Scientists identify genetic link to predict treatment response in patients with aggressive blood cancer

A Singapore team led by clinician-scientists and researchers from the National Cancer Centre Singapore (NCCS) discovered a genetic link to better predict treatment response for relapsed/refractory patients with natural- killer T-cell lymphoma (NKTCL), a highly aggressive form of blood cancer.

13 Aug 2020

Researchers to investigate the role of Connexin 26 protein controlled breathing

The protein Connexin 26 has been previously identified as being directly sensitive to Carbon dioxide and linked to conditions such as KIDS syndrome and deafness.

13 Aug 2020

Scientists unlock behavior of an enzyme involved in cancer spread

A new insight into cell signals that control cancer growth and migration could help in the search for effective anti-cancer drugs. A McGill-led study reveals key biochemical processes that advance our understanding of colorectal cancer, the third most common cancer among Canadians.

12 Aug 2020

FDA approves new treatment option for patients with rare Duchenne muscular dystrophy mutation

Today, the U.S. Food and Drug Administration granted accelerated approval to Viltepso (viltolarsen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping.

12 Aug 2020

Two lipid-binding proteins in mitochondria control overall stability of protein complexes

Mitochondria are the powerhouse of cells which continuously convert energy from food into the chemical energy currency called ATP.

12 Aug 2020

Study identifies factors that influence women's decisions regarding therapy options

Removal of the ovaries before natural menopause (surgical menopause) often exacerbates menopause symptoms and places women at increased risk for heart disease, osteoporosis, and cognitive decline.

12 Aug 2020

Mutation News and Research

Study shows why certain genetically predisposed individuals do not develop heart disease

Could the high rate of mutations bring about SARS-CoV-2's extinction in India?

Study investigates onset of spinocerebellar ataxia associated with loss of motor coordination

Study shows how bats survive the Ebola virus

RNA-based therapeutic approach holds promise as potential cure for hereditary diseases

Combination therapy effective for patients with cholangiocarcinoma marked by BRAF mutations

Researchers identify shared molecular roots between lipid dysfunction and autism

SARS-CoV-2 poses significant threat to many marine mammal species

Genome analysis helps detect 568 genes that drive cancer

Scientists hope to find clues about how life emerged by tinkering with its oldest components

UD researchers gain new insights into hepatitis B virus' genetic blueprint

Tiny packages of materials released by tumors may serve as biomarkers for detecting cancers

Research reveals how quickly pre-cancerous skin lesions can form on the DNA

Discoveries point to a new potential treatment approach for fatal childhood brain tumor

Scientists identify genetic link to predict treatment response in patients with aggressive blood cancer

Researchers to investigate the role of Connexin 26 protein controlled breathing

Scientists unlock behavior of an enzyme involved in cancer spread

FDA approves new treatment option for patients with rare Duchenne muscular dystrophy mutation

Two lipid-binding proteins in mitochondria control overall stability of protein complexes

Study identifies factors that influence women's decisions regarding therapy options

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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