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Study finds molecular key to formation of mature and fully functioning T cells

In a finding that could help lead to new therapies for immune diseases like multiple sclerosis and IBD, scientists report in the Journal of Experimental Medicine identifying a gene and family of proteins critical to the formation of mature and fully functioning T cells in the immune system.

25 Oct 2019

Protein mutation that causes inflammatory bowel diseases becomes dysfunctional

A new study led by researchers at St. Michael's Hospital and the Princess Margaret Cancer Centre in Canada and Zhejiang University School of Medicine in China has uncovered why a protein mutation that causes inflammatory bowel diseases is dysfunctional.

24 Oct 2019

Gene linked to schizophrenia likely confers risk for illness

Researchers have discovered in mice how one of the few genes definitively linked to schizophrenia, called SETD1A, likely confers risk for the illness. Mice genetically engineered to lack a functioning version of the enzyme-coding gene showed abnormalities in working memory, mimicking those commonly seen in schizophrenia patients.

24 Oct 2019

Study seeks participants with VCFS-related psychosis to help create biobank of cerebral organoids

A landmark study is calling for at least 50 people in the U.S. with Velo-Cardio-Facial Syndrome (VCFS)-related psychosis to provide blood samples to create the world’s largest VCFS biobank to date of tiny spheres of neural tissue called "cerebral organoids."

24 Oct 2019

MIT neuroscientists find a way to reverse noise hypersensitivity in mice

People with autism often experience hypersensitivity to noise and other sensory input. MIT neuroscientists have now identified two brain circuits that help tune out distracting sensory information, and they have found a way to reverse noise hypersensitivity in mice by boosting the activity of those circuits.

23 Oct 2019

New CRISPR genome “prime editing” system

Gene editing to correct genetic faults and removing the risk of hereditary diseases may soon become reality. Researchers have come up with a new gene editing technology that could help patients with sickle cell anaemia and up 89 percent of other genetic defects.

22 Oct 2019

Q-Suite Motor Assessment Tool helps detect subtle motor abnormalities in children

In clinical trials of adults with Huntington's disease (HD) the Q-Suite Motor Assessment Tool (Q-Motor) has proven to be helpful to detect and quantitate subtle motor abnormalities.

22 Oct 2019

LSU Health New Orleans awarded $1.74 million to advance research on Usher syndrome

Jennifer J. Lentz, PhD, Associate Professor at LSU Health New Orleans Neuroscience Center of Excellence and Departments of Otorhinolaryngology, Genetics and Ophthalmology, in collaboration with Robert K. Koenekoop MD, PhD and Professor of Pediatric Surgery, Human Genetics and Ophthalmology at McGill University in Montreal, Quebec, Canada, has been awarded a $1.74 million USD grant to advance research on Usher syndrome.

22 Oct 2019

Columbia researchers capture new detailed images of a temperature-sensing molecule

Columbia University researchers have captured new detailed images of a temperature-sensing molecule in its open, intermediate, and closed states.

21 Oct 2019

Peptide-based nanoparticles can suppress pancreatic cancer growth without adverse effects

Despite advances in cancer survival, more than 90 percent of people with pancreatic cancer die within five years. Most patients with pancreatic tumors (and half of those with colorectal cancers) carry a mutation in the KRAS gene, which normally controls cell growth and death.

21 Oct 2019

New drug treats inflammation related to inherited heart disease in young athletes

When young athletes experiences sudden cardiac death as they run down the playing field, it's usually due to arrhythmogenic cardiomyopathy, an inherited heart disease.

From Johns Hopkins Medicine 17 Oct 2019

Improved antibody validation

Antibodies are used in a variety of clinical and research situations to examine the structure and function, and distribution of proteins. However, many researchers have found a lack of specificity in the functioning of these antibodies. This means that any work conducted using these antibodies will not yield reliable results.

16 Oct 2019

UCLA research identifies potential strategy that may halt Huntington's disease

A new study examining the role that star-shaped brain cells called astrocytes play in Huntington's disease has identified a potential strategy that may halt the disease and repair some of the damage it causes.

16 Oct 2019

Epigenetic changes can lead to development of GISTs, other cancers

Most cases of gastrointestinal stromal tumor (GIST), a type of soft-tissue cancer (sarcoma), are caused by mutations in genes that can be effectively targeted with drugs that inhibit the activity of rogue cancer-promoting enzymes.

16 Oct 2019

Scientists decipher assembly line of glutamate receptors

Rapid communication of neurons in the brain, as well as the ability to learn, fundamentally rely on neurotransmitter receptors located in the contact sites of neurons, the synapses. The most important receptors in the mammalian brain are glutamate receptors of the AMPA-type that generate the electrical signal required for fast communication between neurons.

16 Oct 2019

Subtle changes in mitochondrial DNA can have profound consequences for patient's health

Subtle changes in the DNA of mitochondria, the tiny power plants within cells, can have profound consequences for a patient's health.

16 Oct 2019

Scientists discover how malaria switched host from African gorillas to humans

Researchers have revealed the series of events that probably led to the world’s deadliest form of malaria being able to jump from ancient great apes to humans.

16 Oct 2019

Research reveals increased inflammatory activity in patients with frontotemporal dementia

Recent research from the University of Eastern Finland revealed increased inflammatory activity in a subgroup of patients with frontotemporal dementia. Increased inflammation was associated with parkinsonism symptoms and more rapid disease progression.

15 Oct 2019

Gene mutations in the ClC-2 chloride channel cause high blood pressure, kidney damage

When the adrenal gland produces too much aldosterone, this often leads to high blood pressure and kidney damage (hyperaldosteronism). It has only recently emerged that several patients harbor a mutation in the gene for the ClC-2 chloride channel.

15 Oct 2019

Study suggests new model of treatment for heart attack or stroke victims

Each year, heart attacks kill almost 10 million people in the world, and more than 6 million die from stroke. A heart attack is caused by a clot that blocks the artery blood flow. Unirrigated tissues are deprived from the oxygen that is carried by the blood. Under these conditions, the affected tissues undergo a rapid necrosis.

15 Oct 2019

Mutation News and Research

Study finds molecular key to formation of mature and fully functioning T cells

Protein mutation that causes inflammatory bowel diseases becomes dysfunctional

Gene linked to schizophrenia likely confers risk for illness

Study seeks participants with VCFS-related psychosis to help create biobank of cerebral organoids

MIT neuroscientists find a way to reverse noise hypersensitivity in mice

New CRISPR genome “prime editing” system

Q-Suite Motor Assessment Tool helps detect subtle motor abnormalities in children

LSU Health New Orleans awarded $1.74 million to advance research on Usher syndrome

Columbia researchers capture new detailed images of a temperature-sensing molecule

Peptide-based nanoparticles can suppress pancreatic cancer growth without adverse effects

New drug treats inflammation related to inherited heart disease in young athletes

Improved antibody validation

UCLA research identifies potential strategy that may halt Huntington's disease

Epigenetic changes can lead to development of GISTs, other cancers

Scientists decipher assembly line of glutamate receptors

Subtle changes in mitochondrial DNA can have profound consequences for patient's health

Scientists discover how malaria switched host from African gorillas to humans

Research reveals increased inflammatory activity in patients with frontotemporal dementia

Gene mutations in the ClC-2 chloride channel cause high blood pressure, kidney damage

Study suggests new model of treatment for heart attack or stroke victims

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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