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brain evolution concept - Human Accelerated Regions of the genome

‘Human accelerated regions’: How they make our brains uniquely human

Basic/Translational, Research
Starting when humans diverged from chimpanzees some 5 to 6 million years ago, we’ve evolved in our uniquely human fashion thanks to changes in our genome. And certain parts of the human genome, known as human accelerated regions or HARs, have evolved especially rapidly. Intriguing new work led by Christopher Walsh, MD, PhD, of Boston ... Read More about ‘Human accelerated regions’: How they make our brains uniquely human
Tagged: autism spectrum disorder, developmental medicine, genetics and genomics, neuroscience
understanding interferon's role COVID-19

Unpacking the body’s interferon response to COVID-19

Basic/Translational, Research
Interferons are potent natural antivirals, rallying other parts of the immune system to defend against viruses. Some clinical trials have tested interferons as a treatment for COVID-19, but results have been mixed. And the science has been unclear about whether interferons are helpful or harmful. Key takeawayAn early, protective interferon response in the upper respiratory ... Read More about Unpacking the body’s interferon response to COVID-19
Tagged: cellular and molecular medicine, coronavirus, immunology, infectious diseases
cancerous cell transformation concept

RNA-modifying protein offers a possible lead for treating aggressive cancers

Basic/Translational, Research
A protein that modifies RNAs, called METTL1, could be a target for treating some aggressive, difficult-to-treat cancers, suggests new research in Molecular Cell. The study provides evidence that blocking METTL1 curbs cancer cells’ ability to grow, selectively killing them, and the researchers believe it could be targeted with drugs. METTL1 and related proteins had previously ... Read More about RNA-modifying protein offers a possible lead for treating aggressive cancers
Tagged: cancer, drug development, genetics and genomics
COVID-19 nasal swab with different cell types in the nasopharynx

Why do some people get severe COVID-19? The nose may know

Basic/Translational, Research
The body’s first encounter with SARS-CoV-2, the virus behind COVID-19, happens in the nose and throat, or nasopharynx. A new study in the journal Cell suggests that the first responses in this battleground help determine who will develop severe disease and who will get through with mild or no illness. Building on work published last ... Read More about Why do some people get severe COVID-19? The nose may know
Tagged: coronavirus, genetics and genomics, immunology, infectious diseases
illustration of the genetics of joint disease - hip dysplasia and knee osteoarthritis

The surprisingly specific genetics of joint disease

Basic/Translational, Research
A new study provides unexpected insights into the biology of two common, heritable orthopedic conditions: developmental dysplasia of the hip (DDH) and knee osteoarthritis (OA). The findings, published July 6 in Nature Communications, show how a gene can have different effects in different parts of the body. They also raise the possibility of preventive measures ... Read More about The surprisingly specific genetics of joint disease
Tagged: epigenetics, genetics and genomics, hip dysplasia, orthopedics, personalized medicine, sports medicine
polymicrogyria

A ‘pump’ gene’s surprising role in early brain formation

Basic/Translational, Research
In polymicrogyria, the cortex of the brain has many irregular, small folds (gyria) and disorganization of its layers. Many affected children have severe developmental delay, intellectual disabilities, and epilepsy, and many need to use a wheelchair. Mutations in several different genes can cause this “overfolding of the brain” condition. Key takeaways The gene ATP1A3, associated ... Read More about A ‘pump’ gene’s surprising role in early brain formation
Tagged: brain malformation, cellular and molecular medicine, genetics and genomics, neurology, neuroscience, polymicrogyria
A cutaway view of the brain with the choroid plexus shown in the brain’s cavities, bathed by CSF.

An ‘atlas’ of the choroid plexus across the lifespan

Basic/Translational, Research
Once viewed merely as a producer of the cerebrospinal fluid (CSF) bathing the brain and spinal cord, the choroid plexus is now known to be a key player in brain development and immunity. These fronds of brain tissue, located in the CSF-filled brain cavities known as ventricles, secrete instructive cues into the CSF to regulate ... Read More about An ‘atlas’ of the choroid plexus across the lifespan
Tagged: cellular and molecular medicine, immunology, neuroscience
ALS drugs hyperexcitability screen

Motor neurons made from patients’ cells reveal possible ALS drugs and targets

Basic/Translational, Research
Amyotrophic lateral sclerosis (ALS) is a severe, fatal neurodegenerative disorder causing loss of motor neurons and voluntary muscle action. While mouse studies have identified potential treatments, these drugs have typically done very poorly in human trials. “One of the most difficult challenges in drug discovery is identifying a target that has a key role in ... Read More about Motor neurons made from patients’ cells reveal possible ALS drugs and targets
Tagged: drug development, epilepsy, neurology, neuroscience, stem cells
illustration of lungs with COVID virus infected

What drives severe lung inflammation in COVID-19?

Basic/Translational, Research
A main feature of COVID-19 is lung inflammation and respiratory failure caused by an overexuberant immune response known as the cytokine storm. But why does the body produce such an excess of cytokine immune cells? New research from Talal Chatila, MD, of the Division of Immunology at Boston Children’s Hospital and colleagues provides some insights, ... Read More about What drives severe lung inflammation in COVID-19?
Tagged: coronavirus, immunology
illustration of neuron stem cells in culture dish

Recommendations for reproducibility in stem cell research

Basic/Translational, Research
The ability to program induced pluripotent stem cells (iPSCs) and drive their differentiation into a variety of neural cells is essential for studying neurological disorders, including intellectual and developmental disabilities (IDDs). But issues regarding variability and reproducibility from lab to lab make translating discoveries difficult, in turn slowing the progress of IDD research. To address ... Read More about Recommendations for reproducibility in stem cell research
Tagged: intellectual disability, neurology, stem cells

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