Category: Genetics

APOE4 variant linked to greater neurological damage in multiple sclerosis

A genetic variant widely associated with Alzheimer’s disease may also contribute to more severe neurological damage in people with multiple sclerosis, according to a new study. Researchers found that individuals with multiple sclerosis who carry the APOE4 gene variant experience greater neurodegeneration, including increased nerve damage, more extensive brain tissue changes, and slower cognitive processing…

Mary Reilly receives AANEM’s 2025 Honorary Member Award

The American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) has announced that Dr Mary Reilly, MD has received the 2025 Honorary Member Award for her scientific contributions and unwavering commitment to improving patient care in neuromuscular medicine. Dr Reilly graduated from University College Dublin in 1986, earned her Doctor of Medicine in 1996, and was…

New genetic disorder identified

Researchers from Washington University School of Medicine, collaborating globally, have uncovered a new genetic disorder linked to defective protein folding. This breakthrough provided a diagnosis for a child with rare neurological symptoms, offering hope for families navigating complex diagnostic journeys. Published in Science, the study identified a genetic mutation in the CCT3 gene as the…

Genetic testing for neurodevelopmental conditions

More personalised care for children 18 December 2024:Adding genetic testing to the evaluation of paediatric patients with neurodevelopmental disorders (NDD) resulted in more personalised care, including changes in medication, referrals to clinical trials or specialists, and surveillance for potential medical issues, according to a new UCLA Health study. Children who present with neurodevelopmental differences, such…