What is pharmacogenetics (farm-uh-ko-genetics)? Pharmacogenetics is a big word for a simple idea — your genetics can influence how you process certain medications. Pharmacogenetics can help your healthcare provider when choosing an appropriate course of treatment. How does the CYP2C19 gene impact drug metabolism? The CYP2C19 gene contains instructions for making the CYP2C19 enzyme, which… Continue reading CYP2C19 Drug Metabolism
Severe Acne
What is severe acne? Severe acne is a common skin condition that occurs when hair follicles in the skin become clogged with oil, bacteria, and dead skin cells. This can lead to many deep and painful types of pimples along with many whiteheads and blackheads. Severe acne is most common on the face, but can… Continue reading Severe Acne
Gestational Diabetes
What is gestational diabetes? Gestational diabetes mellitus, commonly known as gestational diabetes, is a form of diabetes that starts during pregnancy. During pregnancy, the body produces high levels of certain hormones that impair the body’s response to insulin, resulting in increased blood sugar levels. After childbirth, these levels typically return to normal. For most people,… Continue reading Gestational Diabetes
Gallstones
What are gallstones? The gallbladder is a small, pouch-like organ underneath the liver that stores bile, a fluid that helps digest fats in the small intestine. Gallstones are solid, pebble-like masses that form in the gallbladder and are typically classified into two types depending on their makeup. Cholesterol gallstones, which make up 80% of gallstones… Continue reading Gallstones
Nijmegen Breakage Syndrome
What is Nijmegen breakage syndrome? Nijmegen (pronounced “NY-may-gen”) breakage syndrome is a rare genetic disorder. It is characterized by developmental delay, recurring infections, and an increased risk of cancer. A person must have two variants in the NBN gene in order to have this condition. People with just one variant in the NBN gene are… Continue reading Nijmegen Breakage Syndrome
Hereditary Fructose Intolerance
What is hereditary fructose intolerance? Hereditary fructose intolerance is a rare genetic disorder. It is characterized by low blood sugar levels, stomach pain, and vomiting after eating fructose (a type of sugar). A person must have two variants in the ALDOB gene in order to have this condition. People with just one variant in the… Continue reading Hereditary Fructose Intolerance
ARSACS
What is ARSACS? ARSACS (also known as autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a rare genetic disorder characterized by loss of sensation and muscle control, as well as muscle stiffness that worsens over time. A person must have two variants in the SACS gene in order to have this condition. People with just one… Continue reading ARSACS
Salla Disease
What is Salla disease? Salla disease (also known as free sialic acid storage disease) is a rare genetic disorder. It is characterized by a gradual loss of muscle tone and coordination, as well as impaired growth, intellectual disability, and seizures. A person must have two variants in the SLC17A5 gene in order to have this… Continue reading Salla Disease
HDL Cholesterol
What is HDL cholesterol? High-density lipoprotein (HDL) cholesterol is a waxy substance made of fat and protein molecules that circulates in the blood. HDL cholesterol picks up “bad” LDL cholesterol from the blood and carries it back to the liver where it is broken down and removed from the body. This helps prevent LDL cholesterol… Continue reading HDL Cholesterol
Eczema (Atopic Dermatitis)
What is eczema? Eczema is a skin condition that causes dry, discolored, and itchy skin. People with eczema are more likely to get skin infections and are more likely to develop asthma and allergies. Atopic dermatitis (AD) is the most common type of eczema, and the two terms are sometimes used interchangeably. What is atopic… Continue reading Eczema (Atopic Dermatitis)
