Articles related to Medical Genetics

Recent studies suggest that ALS may begin to develop shortly after conception, taking years or decades before symptoms appear, highlighting the importance of early intervention and lifestyle modifications.

The PREVENT equation, developed by the American Heart Association in 2023, aims to provide a more accurate cardiovascular risk assessment for today’s population, potentially reducing statin prescriptions by 40%.

Valoctocogene roxaparvovec gene therapy demonstrates long-term efficacy in reducing bleeding episodes and factor VIII use in patients with severe hemophilia A, potentially changing the treatment landscape for this condition.

Unknown family histories in adoptees and others can lead to disparities in healthcare delivery, necessitating a reevaluation of current practices in genetic risk assessment and preventive care.

Yale researchers have developed an AI model capable of diagnosing Marfan syndrome from facial photographs with 98.5% accuracy, potentially enabling earlier intervention for this life-threatening genetic disorder.

In a phase 3 trial involving 103 pediatric patients with congenital adrenal hyperplasia, crinecerfont treatment resulted in a mean reduction of androstenedione levels by 197 ng/dL after 4 weeks, compared to an increase of 71 ng/dL in the placebo group.