Category: Health Predispositions

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

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

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

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

What is age-related macular degeneration?

Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss among older adults. The disease results in damage to the central part of the retina, impairing vision needed for reading, driving, or even recognizing faces. Vision loss related to AMD usually becomes noticeable in a person’s 60s or 70s and tends to worsen over time.

Genetics of Parkinson’s disease risk Risk for Parkinson’s disease is influenced by genetics. In fact, the disease is associated with genetic variants (differences) in many genes. Two of the best studied genes associated with Parkinson’s disease are called LRRK2 and GBA. There are other genes and variants that have also been linked to Parkinson’s disease,… Continue reading Parkinson’s Disease

Genetics of Hereditary Thrombophilia Hereditary thrombophilia is genetic. The two most common genetic variants (differences) linked to hereditary thrombophilia are found in two genes, called F5 and F2. These genes are important in the normal clotting process. But the F5 variant (sometimes called factor V Leiden) and the F2 variant increase the risk of developing… Continue reading Hereditary Thrombophilia & Genetics

Is hereditary hemochromatosis genetic? Yes. Hereditary hemochromatosis is a genetic condition. Most cases of hereditary hemochromatosis are due to variants in the HFE gene, although variants in other genes have also been found. Hereditary hemochromatosis affects many people Hereditary hemochromatosis is one of the most common genetic diseases in the U.S. It is estimated that… Continue reading Hereditary Hemochromatosis & Genetics

Is TTR-Related Hereditary Amyloidosis Genetic? Yes,TTR-related hereditary amyloidosis is genetic. It is caused by genetic variants (differences) in the TTR gene. However, TTR-related hereditary amyloidosis is not the only cause of amyloidosis. There are other forms of hereditary amyloidosis that are caused by genetic variants in other genes. In addition, some people develop TTR-related amyloidosis… Continue reading TTR-Related Hereditary Amyloidosis

Is G6PD deficiency genetic? G6PD deficiency is a genetic condition involving a gene called G6PD. The G6PD gene contains instructions for making an enzyme that plays a role in protecting red blood cells against damage. Certain genetic variants (differences) in the G6PD gene reduce the levels or activity of the enzyme. This can lead to… Continue reading G6PD Deficiency & Genetics