Monday, November 23, 2020
Diseases Genetic

Latest articles in Genetic

BRCA1 and 2: The Breast Cancer Genes

Recent breast cancer statistics suggest that 1 in 8 women will be diagnosed with breast cancer in their lifetime. Approximately 60 percent of women who have inherited these harmful gene mutations will develop breast cancer.

Lysosomal or Lipid Storage Diseases

Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body.

Crohn’s Disease

Crohn’s disease is a chronic disease that causes inflammation and irritation in your digestive tract. Most commonly, Crohn’s affects your small intestine and the beginning of your large intestine

Alagille syndrome

Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts.

Direct to Consumer, Genetic Testing

Direct-to-consumer genetic testing provides people access to certain of their genetic information without necessarily involving a healthcare provider

FBN1 gene, fibrillin 1

The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.

Marfan Syndrome (MFS)

Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones

Loeys-Dietz syndrome (LDS)

Also known as LDS or Loeys-Dietz aortic aneurysm syndrome, this is a disorder that affects the connective tissue in many parts of the body

The SERPINA1 Gene, serpin family A member 1

The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which is a type of serine protease inhibitor (serpin)

AAT Deficiency, Inherited Emphysema

Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.

Editors Choice

Lysosomal or Lipid Storage Diseases

Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body.

Direct to Consumer, Genetic Testing

Direct-to-consumer genetic testing provides people access to certain of their genetic information without necessarily involving a healthcare provider

FBN1 gene, fibrillin 1

The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.