Genetics

The cerebellum, a brain region located at the back of the head that has long been known to support the coordination of muscle movements, has recently also been implicated in more sophisticated mental functions. Purkinje cells are the only neurons located in the cerebellum that integrate information in the cerebellar cortex and send it to other parts of the nervous system.

Micro- and nanoplastics prevalent in the environment routinely enter the human body through the water we drink, foods we eat, and even the air we breathe. Those plastic particles infiltrate all systems of the body, including the brain, where they can accumulate and trigger Alzheimer’s-like conditions, according to a new study by researchers in the University of Rhode Island College of Pharmacy.

A Spanish study shows that patients with genetic dilated cardiomyopathy who experience severe arrhythmias are at an elevated risk of developing advanced heart failure and requiring a heart transplant.

Transplanting hematopoietic stem cells from healthy individuals is one of the possible treatments for blood cancers. In Switzerland, it involves nearly 300 patients per year. However, nearly half of transplants fail, mainly due to complications related to imperfect genetic compatibility between the donor and recipient.

A study in China covering 42,703 families affected by rare diseases across 32 provincial regions of China has established a new diagnosis framework for rare diseases. It offers new hope to millions of patients struggling with delayed or incorrect diagnoses.

When genetic testing reveals a rare DNA mutation, doctors and patients are frequently left in the dark about what it actually means. Now, researchers at the Icahn School of Medicine at Mount Sinai have developed a powerful new way to determine whether a patient with a mutation is likely to actually develop disease, a concept known in genetics as penetrance.

Northwestern Medicine scientists have discovered how a common virus linked to birth defects and chronic illness manipulates its host’s DNA, according to a new study published in Nature Communications.

A study published in PNAS has found that for people with a rare form of ichthyosis, medications previously used to treat cancer could be repurposed for treatment.

Lowering the activity of interleukin-6 (IL-6)—a key immune signal regulating inflammatory responses in the body—could reduce the risk of cardiovascular disease without making people more vulnerable to infections, according to new research from LMU’s Institute for Stroke and Dementia Research and international collaborators.

A new AI system that creates simulated cancer genomes could reshape the tools used to analyze tumors, helping bring about more accurate cancer diagnosis and ultimately more effective treatments.