In a family with unusually low cholesterol levels, scientists found a unique genetic clue. This family had a rare gene variant that might explain their condition. The variant is in a gene called ANGPTL3. This gene is not often linked to low cholesterol, making this discovery quite interesting. Researchers wanted to understand if this variant was indeed causing the l...
The pancreas, a vital organ, varies in size and fat content among people. This variation is especially noticeable in those with diabetes. However, the reasons behind these differences are not fully understood. Race, genetics, and lifestyle choices might play a role. For instance, certain genetic markers could influence pancreas size. Similarly, lifestyle factors lik...
The pro-opiomelanocortin gene, or POMC, is a key player in the body's hormone system. It helps regulate various hormones, including those that control weight and skin color. When this gene has two harmful mutations, it can lead to some serious health issues. These issues include low cortisol levels, lighter skin color, and significant weight gain early in life. This ...
The way our bodies react to tuberculosis (TB) can be very different from one person to another. This is because our genes play a big role in how we fight off infections. A recent study dug deep into this mystery. Researchers looked at how immune cells in our blood react to the TB bacteria. They focused on four important signals that our immune cells send out when the...
Parkinson's disease is a tricky condition. It is influenced by a mix of genes, environment, and lifestyle. Roughly 30% of the risk comes from genes. However, a lot of the genetic puzzle is still missing. This is partly because most studies focus on European ancestry. Latin America offers a chance to fill in some of these gaps. Researchers decided to look into g...
The D-- blood type is a rare and unusual condition. It is missing several key markers that are usually present on red blood cells. These markers include C, c, E, and e, along with other common ones. This absence can lead to serious issues. For instance, people with this blood type can develop antibodies that attack Rh17. This can cause problems during blood transfusi...
Melanoma is a type of skin cancer that can be quite serious. Scientists have been looking into why some people get it more often than others. They found that certain genes can make a person more likely to get melanoma. These genes can be passed down from parents to their kids. This is what we call inherited genetic variants. But here's where it gets tricky. These ge...
In 2019, Ontario made a big step forward in detecting hearing loss in newborns. They started a new screening program that looks for signs of permanent hearing loss (PHL) in babies right after they're born. This isn't just about checking if babies can hear sounds, but also looking into their genes for any red flags. Specifically, they look for a virus called cytomegal...
Kids with brain development issues caused by KCNQ2 variants face a tough time getting diagnosed. This is because these variants are quite diverse and their effects aren't clear. Let's take a look at one child who had seizures right after birth, along with moderate brain development problems. This child had a specific variant called KCNQ2 G256W. Scientists studied th...