Articles related to Medical Genetics

A 29-year-old woman bought a genetic test that includes BRCA analysis. She comes to you with the results and asks for guidance. The results are negative for BRCA1 and BRCA2, but she has a positive family history for breast cancer. What do you advise?

A quartet of current clinical trials involving first-in-class molecules and CRISPR gene editing show great promise. STELLAR investigates a fusion protein in PAH, CodeBreak 200 studies a first-in-class of KRAS inhibitor, EMERGENT-2 focuses on a new treatment for schizophrenia, and NCT04601051 studies a gene editing drug for one form of amyloidosis.

Diabetes medications, such as metformin, have glucose-independent effects on the male reproductive system. However, until now, it was unknown if these effects lead to birth defects in offspring. This study concludes that metformin intake in men is associated with major birth defects, particularly genital birth defects in boys.

Let’s be honest, some medical specialties are easier than others, offering better hours at higher rates of pay and with less stress. However, for every doctor whose specialty affords them time on the golf course, there are other specialties that leave physicians trapped in a spiraling cycle of unpredictable hours, bad pay, and terrible work-life balance. How does your specialty measure up?

Only about half of doctors in America identify themselves as “millionaires.” Like the rest of us, many physicians need to invest their money to grow it and build a retirement fund. And, increasingly, doctors are following the lead of the super-rich and investing in art. One-percenters are increasingly putting their money into art, which offers superior returns to the stock market averages with less risk and stress. Over time, the price of art tends to move in one direction — upwards — whereas stock prices can gyrate wildly and are prone to extreme volatility.

The U.S. Food and Drug Administration (FDA) held a two-day public meeting to discuss managing the potential side effects of gene therapies following the death of a boy with a rare neuromuscular disease. High doses of gene therapies are known to cause liver damage, and recent studies have also found a potential long-term cancer risk in mice and dogs treated with gene therapies.