What is coronary artery disease? Coronary artery disease, sometimes called CAD, is a type of heart disease typically caused by the buildup of plaque inside the coronary arteries. The coronary arteries are important because they are the major blood vessels that supply the heart with oxygen-rich blood. When plaque builds up in the coronary arteries,… Continue reading Coronary Artery Disease
Atrial Fibrillation
What is atrial fibrillation? Atrial fibrillation, sometimes called AFib or AF, is a common type of arrhythmia, or irregular heartbeat. It happens when the two upper chambers of the heart (called the atria) beat irregularly. Normally, the atria pump blood into the two lower chambers of the heart (the ventricles) at a steady beat and… Continue reading Atrial Fibrillation
Fear of Public Speaking & Genetics
How it works When the brain senses a threat in the environment, a part of the brain called the amygdala responds by activating the “fight or flight” response. This response includes many biological changes, like a faster heart rate and increased blood flow to the brain. Studies have found that when speaking in front of… Continue reading Fear of Public Speaking & Genetics
Gaucher Disease Type 1 & Genetics
Causes of Gaucher disease type 1 Gaucher disease type 1 is caused by variants (differences) in the GBA gene. The GBA gene contains instructions for making an enzyme that breaks down a large, fatty molecule called glucocerebroside into simpler sugars and fats. Certain variants in the GBA gene prevent the enzyme from functioning. This can… Continue reading Gaucher Disease Type 1 & Genetics
MUTYH-Associated Polyposis
What is MUTYH-associated polyposis? MUTYH-associated polyposis (MAP) is a hereditary colorectal cancer syndrome. People with MAP tend to develop colon and rectal polyps and have an increased risk of developing colorectal cancer. They may also have a slightly increased risk of developing certain other cancers. The genetics behind MUTYH-associated polyposis Most colorectal cancers start as… Continue reading MUTYH-Associated Polyposis
APOL1-Related Chronic Kidney Disease
What is chronic kidney disease? Chronic kidney disease is a condition in which the kidneys stop working properly over time. Because the kidneys serve as filters for our blood, chronic kidney disease can cause excess fluid and waste from the blood to build up in the body. This can lead to health problems including bone… Continue reading APOL1-Related Chronic Kidney Disease
Pyruvate Kinase Deficiency
What is pyruvate kinase (PK) deficiency? Pyruvate kinase (PK) deficiency is a rare genetic disorder in which red blood cells break down too quickly, leading to chronic anemia. A person must have two variants in the PKLR gene, or two copies of a variant, in order to have this condition. People with just one variant… Continue reading Pyruvate Kinase Deficiency
Tyrosinemia Type I & Genetics
What is tyrosinemia type I? Tyrosinemia type I is a rare genetic disorder characterized by high levels of the amino acid tyrosine that can lead to liver and kidney disease. A person must have two variants in the FAH gene in order to have this genetic condition. People with just one variant in the FAH… Continue reading Tyrosinemia Type I & Genetics
Sjögren-Larsson Syndrome
What is Sjögren-Larsson syndrome? Sjögren-Larsson syndrome is a rare genetic disorder characterized by scaly dry skin, intellectual disability, and persistent muscle stiffness. A person must have two variants in the ALDH3A2 gene in order to have this genetic condition. People with just one variant in the ALDH3A2 gene are called carriers. They’re not expected to… Continue reading Sjögren-Larsson Syndrome
MCAD Deficiency
What is MCAD deficiency? MCAD Deficiency is a rare genetic disorder characterized by episodes of very low blood sugar while fasting or under stress. A person must have two variants in the ACADM gene in order to have this genetic condition. People with just one variant in the ACADM gene are called carriers. They’re not… Continue reading MCAD Deficiency
