Alström syndrome (AS) is a rare genetic condition. It affects about 1 in 10, 000 to 1 in 1, 000, 000 live births. It is caused by changes in the ALMS1 gene. A young girl was diagnosed with AS at age 5. She had a unique change in her ALMS1 gene. This change had not been seen before. It was a homozygo
In the world of medical science, there are cases that puzzle experts and push the boundaries of our understanding. One such case involves a rare genetic variant in the ACTC1 gene. This variant is linked to some serious health issues that can be spotted even before a baby is born. Doctors can see pr
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. Rese
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 ma
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,
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 focu
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 chan
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 antibo
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 i
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 fo
