Genetically Speaking, You’re More Like Your Dad

You may have inherited your mother’s eyes, but, genetically speaking, you use more DNA passed down from your father. That’s the conclusion of a new study on mice that researchers say likely applies to all mammals.

We humans get one copy of each gene from mom and one from dad (ignoring those pesky sex chromosomes) that hasn’t changed. The same is true for all mammals. But that doesn’t necessarily mean that mom and dad genes are equally active in creating who we are.

Researchers now report that thousands of mouse genes show parent-specific effects, and that on balance, the scales are tipped in favor of dads. Studying whether this imbalance exists in humans could give scientists insights into the causes of inherited conditions like diabetes and heart disease.

Source: Genetically Speaking, You’re More Like Your Dad

Mutations That Change Your Heart and Your Brain

Thirteen percent of newborns with congenital heart disease (CHD) also have congenital abnormalities that don’t affect the heart. This is twice the rate at which they appear in newborns without heart problems. Infants with CHD are also at an increased risk of neurodevelopmental disorders later in life, like motor, social, language, and cognitive impairments.

These elevated risks were thought to be caused by poor circulation during gestation or the stresses imposed by postnatal therapies. But a new study suggests that both types of abnormality are actually due to mutations in genes highly expressed in the developing heart and brain. Results are published in Science.

Source: Mutations that change your heart and your brain

Interventions in early development often require referral during the first three years, but due to variability in early development, a child may effectively “fly under the radar” because they are mildly delayed, but showing just enough progress to be deferred until later. Many pediatricians may not make an early referral for these reasons and the child may show up for a first developmental evaluation (specialist) around age 4 or 5 years. By this point a lot of opportunity has been missed and other skills (e.g., social skills) may begin to lag behind due to increased frustration and aggression (and lots of disciplinary incidents).

This knowledge may help flag a child as being at greater risk and result in earlier pediatrician referrals, thus catching the problem earlier.

This Test For Heart Disease in Newborns Costs Less Than a Diaper Change

Congenital heart disease is one of several ailments, including pneumonia and sepsis, that kill eight babies every minute, every day. But a decades-old technology, combined with a smartphone app, can tell doctors in less than 60 seconds if a baby is at risk for any of these asymptomatic, hard-to-detect killers. And in developing nations like China, it costs less than a diaper change.

Source: This Test For Heart Disease in Newborns Costs Less Than a Diaper Change

There’s some controversy in pediatrics about the utility of the oxygen saturation screening for congenital heart disease.  There are a lot of false positives and a lot of the most common types of congenital heart defects don’t result in oxygen saturation problems.  There are a lot of issues with doing this in places in the U.S. without easy access to pediatric cardiologists and echocardiography, where the false positives make it harder for kids with real issues to get seen and treated.

Expanding this into resource poor nations is a waste.  What good is a positive screen if you don’t have available echo techs, cardiologists, and cardiothoracic surgeons?  It’s only a chance at a long life if you can do something about a positive screen. For example hypoplastic left heart syndrome, one of the conditions we’re screening for, requires three complex surgeries over the first 3 years of life, months of cardiac ICU time, a really good multidisciplinary team, and is ultimately just palliative and usually ends up with a heart transplant in the teens or early twenties. So what’s the utility of screening for this in a country that is struggling to provide basic clean water and manage diseases that cost pennies to prevent or treat?