Mutation News and Research

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Discovery of molecular origins of a heart beat

Researchers have found that molecular origins of a heart beat. They have found the proteins that make up tiny sodium channels in the tissues of the heart that can help generate the heart beats. The results of the study titled, “Structure of the Cardiac Sodium Channel” was published yesterday 19th of December 2019 in the journal Cell.

22 Dec 2019

New research could lead to an improved vaccine to protect against meningococcal infections

New research from experts at the University of Nottingham could lead to an improved vaccine to protect against the bacterium, Neisseria meningitides that causes sepsis and meningitis.

22 Dec 2019

Study uncovers a previously unknown subtype of muscle stem cells

Scientists have discovered a new subtype of muscle stem cells. These cells have the ability to build and regenerate new muscles, making them interesting targets for the development of gene therapies.

21 Dec 2019

Data results of NCI-MATCH trial in tumors with DNA mismatch repair deficiencies

Final results are published from an evaluation of 42 patients treated with the immune checkpoint inhibitor nivolumab in the large multi-arm precision medicine trial, NCI-Molecular Analysis for Therapy Choice (NCI-MATCH or EAY131).

20 Dec 2019

Researchers discover a way to move precision immunotherapy forward for multiple myeloma

Researchers at the Icahn School of Medicine at Mount Sinai have discovered a way to move precision immunotherapy forward by using genomics to inform immunotherapy for multiple myeloma, a blood cancer, according to a study published in Clinical Cancer Research, a journal of the American Association for Cancer Research, in December.

19 Dec 2019

A fast, sensitive technique to detect cancer markers brings liquid biopsy closer to clinic

A fast, inexpensive yet sensitive technique to detect cancer markers is bringing researchers closer to a "liquid biopsy" - a test using a small sample of blood or serum to detect cancer, rather than the invasive tissue sampling routinely used for diagnosis.

18 Dec 2019

Scientists use supercomputers to shed light on skin cancer formation mechanism

Skin cancer, particularly melanoma, which is the deadliest and most serious type of human skin cancer, begins as a small lesion or blemish. Usually, these blemishes start off as harmless accumulation of melanocytes, which give the skin its color. As the disease progresses, it can spread throughout the body.

18 Dec 2019

Study opens up new treatment possibilities for Wilms' tumor

As an embryo develops, its cells must learn what to do with the thousands of genes they've been equipped with. That's why each cell comes with a detailed gene-expression manual outlining exactly which genes should be switched on, to what extent, and when.

18 Dec 2019

Different mutations in a single gene can have myriad effects on a person's health

Mount Sinai researchers have found that different mutations in a single gene can have myriad effects on a person's health, suggesting that gene therapies may need to do more than just replenish the missing or dysfunctional protein the gene is supposed to encode, according to a study published in Nature Genetics in November.

18 Dec 2019

Yale researchers identify cellular chicanery that jumpstarts cancer

The progression of cancer has been studied extensively, and the key steps in this journey have been well mapped, at least in some solid tumors: Lesions to genes that confer risk of cancer accumulate and alter normal cell behaviors, giving rise, scientists believe, to early stage cancer cells that eventually swamp normal cells and become deadly.

18 Dec 2019

Using math equations to detect and forecast liver cancer risk

The use of mathematical modeling in the study of biological systems has become a challenging and rewarding field of research as it yields many unknown pieces of information. A new study published online on December 16, 2019, in the journal Proceedings of the National Academy of Science (PNAS).

17 Dec 2019

Moffitt researchers develop efficient method for creating mouse models to study melanoma

Genetically engineered mouse models are often used by scientists to study how the addition, deletion or mutation of genes affects the development of disease and effects of drugs.

17 Dec 2019

Researchers identify novel genetic signature with prognostic value for certain breast cancers

Researchers have identified a genetic signature with prognostic value for certain kinds of breast cancer. The discovery also contributes to a better understanding of the molecular mechanisms of pathological angiogenesis, the aberrant proliferation of blood vessels that occurs during cancer and other diseases.

17 Dec 2019

The evidence for BRCA1/2 or any genetic testing in breast cancer patients

A new statement by the American College of Medical Genetics and Genomics (ACMG), published in the journal Genetics in Medicine, discusses the place of germline genetic testing in breast cancer patients.

15 Dec 2019

Researchers find many psychiatric disorders share the same gene variants

An international team of researchers has found that many psychiatric disorders share a common and specific set of gene variants.

13 Dec 2019

ACMG recommends evaluations of breast cancer patients before genetic testing

According to a statement on behalf of the American College of Medical Genetics and Genomics (ACMG) published Dec. 13 in the organization's official journal, Genetics in Medicine, there is insufficient evidence to recommend universal genetic testing for BRCA1/2 alone or in combination with multi-gene panels for all breast cancer patients.

13 Dec 2019

Precision epigenome editing can repair genetic syndrome of intellectual disability

Using a targeted gene epigenome editing approach in the developing mouse brain, Johns Hopkins Medicine researchers reversed one gene mutation that leads to the genetic disorder WAGR syndrome, which causes intellectual disability and obesity in people.

13 Dec 2019

Research suggests contributory role of 'Asian glow' mutation and alcohol to Alzheimer’s

A new study from Stanford, published on December 12 in the journal Acta Neuropathologica Communications, suggests that an important enzyme that helps break down alcohol in the body is defective in patients with Alzheimer’s disease (AD). Understanding its relationship with alcohol and with genes that predispose to AD could help avert the latter in humans at risk.

12 Dec 2019

Rice University study aims to clarify microscopic aspects of cancer initiation

When do cancer-prone cells turn into full-blown cancer? A Rice University scientist and his colleague believe there's a way to know.

12 Dec 2019

Huntington's disease patients need to better understand the risks and benefits of new therapies

For patients with Huntington's disease (HD), clinical trials can offer hope when there are no treatments available despite unknowns about whether the therapy will work or is safe.

10 Dec 2019

Mutation News and Research

Discovery of molecular origins of a heart beat

New research could lead to an improved vaccine to protect against meningococcal infections

Study uncovers a previously unknown subtype of muscle stem cells

Data results of NCI-MATCH trial in tumors with DNA mismatch repair deficiencies

Researchers discover a way to move precision immunotherapy forward for multiple myeloma

A fast, sensitive technique to detect cancer markers brings liquid biopsy closer to clinic

Scientists use supercomputers to shed light on skin cancer formation mechanism

Study opens up new treatment possibilities for Wilms' tumor

Different mutations in a single gene can have myriad effects on a person's health

Yale researchers identify cellular chicanery that jumpstarts cancer

Using math equations to detect and forecast liver cancer risk

Moffitt researchers develop efficient method for creating mouse models to study melanoma

Researchers identify novel genetic signature with prognostic value for certain breast cancers

The evidence for BRCA1/2 or any genetic testing in breast cancer patients

Researchers find many psychiatric disorders share the same gene variants

ACMG recommends evaluations of breast cancer patients before genetic testing

Precision epigenome editing can repair genetic syndrome of intellectual disability

Research suggests contributory role of 'Asian glow' mutation and alcohol to Alzheimer’s

Rice University study aims to clarify microscopic aspects of cancer initiation

Huntington's disease patients need to better understand the risks and benefits of new therapies

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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