Articles related to Medical Genetics

This combination of Parkinsonism and polytrauma provides a powerful example of how neurodegeneration can be compounded by structural damage, with each element worsening the other.

“The damage to DNA lasts a lifetime. Probably the biggest concern is the increased risk of other cancers developing as a result of exposure to prior chemotherapy.”

“Genetic neurodevelopmental disorders are common in the pediatric population, and establishing a specific diagnosis early provides multiple benefits including prognostication, surveillance for disorder-related complications, accurate recurrence risk, and specific management.”

“This genetic overlap suggests that there may be shared biological pathways or metabolic mechanisms connecting the preference for instant coffee with the risk of developing dry AMD.”

Hemoglobin disorders represent the single largest category of genetic disorders in the United States after chromosomal disorders, yet there is no systematic approach to managing them despite excellent guidelines from NHLBI, ASH, and NASCC.

Treatment with gantenerumab for approximately eight years reduced the risk of developing symptoms from essentially 100% to about 50% in participants with genetic mutations causing early-onset Alzheimer’s.