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Genetic breakthrough in psychiatry using long-read genomic sequencing

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.

9 Apr 2025

New method uses sugar molecules to identify pancreatic cancer subtypes

Van Andel Institute scientists and collaborators have developed a new method for identifying and classifying pancreatic cancer cell subtypes based on sugars found on the outside of cancer cells.

9 Apr 2025

Eating ultra-processed foods may rewire your brain’s hunger and reward circuits

High intake of ultra-processed foods is linked to adverse metabolic health and microstructural brain changes in regions that control appetite and reward. These effects occur both through obesity-related pathways and independently via inflammation and dyslipidemia.

9 Apr 2025

Tim-3 identified as promising therapeutic target for Alzheimer's disease

Tim-3 is an immune checkpoint molecule involved in immunity and inflammation recently linked to late-onset Alzheimer's disease (AD), but its role in the brain was unknown until now.

9 Apr 2025

New STITCHR tool offers a promising step forward for gene therapy

Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing tool that can insert therapeutic genes into specific locations without causing unwanted mutations.

9 Apr 2025

ETH Zurich researchers identify redundancies between the genes involved in DNA repair

Researchers aThe DNA of human cells consists of a sequence of about 3.1 billion building blocks. Cells go to great lengths to maintain the integrity of this vast store of information.t ETH Zurich have unraveled the complex network that cells use to repair their genetic material.

9 Apr 2025

Political affiliation reflected in the brain even during mundane activities

People's political affiliation can be shown in their brain activity when they carry out mundane chores such as buying food, a new study shows.

9 Apr 2025

Handheld electro shockers may disrupt pacemakers and heart devices

Research has found that handheld electro-shockers commonly used for self defense can potentially interact with cardiac implantable electronic devices (CIEDs) such as pacemakers, putting individuals at risk.

9 Apr 2025

Laser-based infrared molecular fingerprinting detects common cancers

Cancer diagnoses traditionally require invasive or labor-intensive procedures such as tissue biopsies.

9 Apr 2025

Study reveals sex differences in bone regeneration

Bone regeneration continues to be a critical challenge in tissue engineering, with unpredictable outcomes often hindering clinical application. Current strategies overlook key factors such as donor differences and biological sex, both of which play a significant role in fracture healing.

9 Apr 2025

Cell-by-cell analysis reveals brain changes in Tourette syndrome

In the first comprehensive, cell-by-cell analysis of brain tissue from individuals with Tourette syndrome, researchers have pinpointed exactly which cells are perturbed and how they malfunction, revealing how different types of brain cells are affected by the condition.

9 Apr 2025

Neural organoids offer insight into mechanisms of dementia

Researchers at The Ohio State University Wexner Medical Center and College of Medicine have discovered a new way that neurons act in neurodegeneration by using human neural organoids – also known as "mini-brain" models – from patients with frontotemporal lobar degeneration (FTLD).

9 Apr 2025

What happens if you significantly increase dietary folic acid intake?

Increased dietary folic acid intake may lead to adverse health effects, including inflammation and neurotoxicity, highlighting the need for optimal levels.

9 Apr 2025

Early-life ozone exposure linked to increased risk of childhood asthma and wheezing

Researchers investigate the impact of early-life ozone exposure on asthma and wheezing in children alone and in combination with other air pollutants.

9 Apr 2025

Male-female pairs of mice show resilience in coordinating fear responses

When faced with a potential threat, mice often freeze in place. Moreover, when two animals are together, they typically freeze at the same time, matching each other's periods of immobility.

9 Apr 2025

QRICH1 protein discovery opens new avenues for cancer and autoimmune therapies

In a study of the immune systems of mice, scientists at Johns Hopkins Medicine say they have found a new role for a protein, QRICH1, which could become a target for drugs to dial up or down the activation of T cells to fight cancers and autoimmune diseases.

9 Apr 2025

Study reveals how the brain processes active and passive touch differently

Though the sense of touch underlies how we and most other animals interact with the world around us, much remains unknown about how this sense is processed in the brain.

9 Apr 2025

Breakthrough nanoparticle delivery method targets brain inflammation for multiple conditions

Oregon State University researchers have discovered a way to get anti-inflammatory medicine across the blood-brain barrier, opening the door to potential new therapies for a range of conditions, including Alzheimer's disease, multiple sclerosis, Parkinson's disease and cancer cachexia.

9 Apr 2025

Can nature-based therapies heal people and the planet? Study investigates holistic solutions

Researchers at Swansea University have developed a protocol for a scoping review to explore how nature-based interventions influence individual, collective, and planetary well-being.

9 Apr 2025

IL-12 cytokine factory demonstrates success in targeting hard-to-treat cancers

A team of researchers from the Rice Biotech Launch Pad at Rice University has developed an implantable "cytokine factory" that safely triggers potent immune responses against hard-to-treat cancers, including metastatic melanoma, pancreatic and colorectal tumors.

8 Apr 2025