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Study identifies inhibitor that protects cells from toxic DUX4 effects

About one in 8,000 people have facioscapulohumeral muscular dystrophy, according to a 2014 study, which is relatively common in the world of genetic diseases.

11 Sep 2019

Gene coding error likely responsible for rare form of inherited 'short telomere' disease

By combing through the entire genetic sequences of a person with a lung scarring disease and 13 of the person’s relatives, Johns Hopkins Medicine researchers say they have found a coding error in a single gene that is likely responsible for a rare form of the disease and the abnormally short protective DNA caps on chromosomes long associated with it.

From Johns Hopkins Medicine 11 Sep 2019

Genetic engineering could open possibilities for patients with Parkinson’s disease

People with Parkinson’s disease experience loss of dopamine-producing brain cells, leading to tremors, rigidity, bradykinesia, and postural instability, the primary symptoms of the disease.

11 Sep 2019

Genetic testing may help patients with metastatic breast cancer

Breast cancer is a condition wherein the cells in the breast grow uncontrollably. Breast cancer can spread to the other parts of the body, termed as metastatic breast cancer. It is one of the most aggressive and potentially deadly types of cancer.

10 Sep 2019

Research shows link between genetic mutation and flu-related heart complications

People with severe flu sometimes develop life-threatening heart problems, even when their hearts have been previously healthy, but the reason for that has been poorly understood.

10 Sep 2019

Mutations linked with sensitivity or resistance to immunotherapy in mNSCLC

The relationship between gene alterations and response to anti-PD-L1 with and without anti-CTLA-4 are not well characterized.

10 Sep 2019

Researchers develop new cocktail of drugs that shrink pancreatic tumors

Cancer is relentless and resilient. When a drug blocks a cancer cell's main survival pathway, the cell avoids the obstacle by taking different pathways or detours to save itself. This tactic is called "developing resistance," and it's one of the key challenges researchers face when seeking effective therapeutics to combat pancreatic ductal adenocarcinoma (PDA).

9 Sep 2019

Schizophrenia and brain noise filtering

The sheer abundance of noise that surrounds us makes it necessary for the brain to filter out selective components so that we can focus on what we need or want to hear. This is called filtering. When we hear two sounds that are exactly the same, the brain filters out the second sound by simply reducing the amount of nerve circuits that participate in its reception.

9 Sep 2019

Drug tolerant Tuberculosis could soon be tracked using genes

A team of researchers from the Rutgers New Jersey Medical School have found genetic foot prints of tuberculosis bacteria that are resistant to the commonly used anti-tubercular drugs. This could help scientists develop drugs to combat drug resistance in tuberculosis.

8 Sep 2019

Researchers find synergistic connection between two deadly blood-clotting diseases

Two rare but potentially deadly blood-clotting diseases, namely thrombotic thrombocytopenic purpura, or TTP, and hemolytic uremic syndrome, or HUS, show similar pathologies -- a multitude of painful blockages in small blood vessels that cause varying degrees of organ injury throughout the body. However, the two disorders have distinct biological mechanisms.

8 Sep 2019

Serotonin and anti-depressants can have a major effect on the gut's microbiota

A new study in mice led by UCLA biologists strongly suggests that serotonin and drugs that target serotonin, such as anti-depressants, can have a major effect on the gut's microbiota -- the 100 trillion or so bacteria and other microbes that live in the human body's intestines.

6 Sep 2019

Neuroscientists reveal how our brain filters sounds

Our sound environment is extremely dense, which is why the brain has to adapt and implement filtering mechanisms that allow it to hold its attention on the most important elements and save energy.

6 Sep 2019

Study aims to achieve earlier diagnosis of ATTR cardiac amyloidosis in minority populations

Researchers at Boston Medical Center and Boston University School of Medicine, in collaboration with Columbia University Irving Medical Center, are leading a national, multi-site study aimed to achieve earlier diagnosis of transthyretin cardiac amyloidosis.

4 Sep 2019

SATI gene editing could replace CRISPR

Scientists have developed a new gene editing tool called SATI that is safer than CRISPR.

2 Sep 2019

Discovery of second gene responsible natural short-sleep

Sleep is a crucial part of human health. Piling up a chronic sleep debt by consistently sleeping less than is needed for a fully rested feeling causes a number of illnesses, including heart disease, cancer and autoimmune conditions.

1 Sep 2019

New discovery may help identify type 1 diabetes earlier than is currently possible

Type 1 diabetes, an autoimmune disease that typically emerges before the age of 20, wipes out the body's ability to produce insulin--a hormone that's essential to life. Diagnosis often comes after symptoms arise, at which point the disease has taken hold.

30 Aug 2019

'Clock in a dish' provides new way to replicate developmental disorders

In early mammalian development, timing is everything. For healthy development to occur -- whether it be three weeks for a mouse or nine months for a human -- embryos follow the lead of oscillating genes, which turn on and off in precise cycles and trigger different development milestones. Oscillating genes are conductors keeping time in a symphony of growth.

29 Aug 2019

Inflammation in the lungs triggers silent mutation to cause pulmonary hypertension

Researchers at the Stanford University School of Medicine have found that inflammation in the lungs of rats, triggered by something as simple as the flu, may wake up a silent genetic defect that causes sudden onset cases of pulmonary hypertension, a deadly form of high blood pressure in the lungs.

29 Aug 2019

UC San Francisco scientists identify second 'short sleep' gene after 10-year search

After a decade of searching, the UC San Francisco scientists who identified the only human gene known to promote "natural short sleep" -- lifelong, nightly sleep that lasts just four to six hours yet leaves individuals feeling fully rested -- have discovered a second.

28 Aug 2019

Cannabis use may alter gene linked to autism in male sperm

Researchers from Duke University Medical centre, Durham, USA have come up with an important study that shows that use of cannabis among men could alter a specific gene in their sperm that is linked to autism. The study titled, “Cannabis use is associated with potentially heritable widespread changes in autism candidate gene DLGAP2 DNA methylation in sperm,” and is published in the latest issue of the journal Epigenetics.

28 Aug 2019

Mutation News and Research

Study identifies inhibitor that protects cells from toxic DUX4 effects

Gene coding error likely responsible for rare form of inherited 'short telomere' disease

Genetic engineering could open possibilities for patients with Parkinson’s disease

Genetic testing may help patients with metastatic breast cancer

Research shows link between genetic mutation and flu-related heart complications

Mutations linked with sensitivity or resistance to immunotherapy in mNSCLC

Researchers develop new cocktail of drugs that shrink pancreatic tumors

Schizophrenia and brain noise filtering

Drug tolerant Tuberculosis could soon be tracked using genes

Researchers find synergistic connection between two deadly blood-clotting diseases

Serotonin and anti-depressants can have a major effect on the gut's microbiota

Neuroscientists reveal how our brain filters sounds

Study aims to achieve earlier diagnosis of ATTR cardiac amyloidosis in minority populations

SATI gene editing could replace CRISPR

Discovery of second gene responsible natural short-sleep

New discovery may help identify type 1 diabetes earlier than is currently possible

'Clock in a dish' provides new way to replicate developmental disorders

Inflammation in the lungs triggers silent mutation to cause pulmonary hypertension

UC San Francisco scientists identify second 'short sleep' gene after 10-year search

Cannabis use may alter gene linked to autism in male sperm

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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