Tag Archives: Genetics

Genetics Home Reference: familial hypercholesterolemia

Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called (LDLs), which are the primary carriers of cholesterol… Read More »

Seattle Genetics, Astellas snag quick FDA approval for bladder cancer-fighter Padcev

Historically, metastatic bladder cancer has been “a very bad prognosis,” in the words of Seattle Genetics CEO Clay Siegall. But his company and partner Astellas now have a shot at trying to change that. Wednesday, the FDA handed the duo an early approval for Padcev, a first-of-its kind antibody drug conjugate. The product targets Nectin-4, a protein… Read More »

Breakthrough or a threat?: Research on genetics of same-sex behaviour ignites ethical debate

By Hannah Thomasy Are sexual preferences genetic? According to a recent paper in Science, the answer is at least partially yes. By screening close to 500,000 DNA samples, researchers identified five locations in the genome that were significantly associated with same-sex sexual behaviour. “This work supports the notion that there is a biological component to… Read More »

Genetics Home Reference: PACS1 syndrome

Dutta AK. Schuurs-Hoeijmakers syndrome in a patient from India. Am J Med Genet A. 2019 Jan 28. doi: 10.1002/ajmg.a.61058. [Epub ahead of print] Gadzicki D, Döcker D, Schubach M, Menzel M, Schmorl B, Stellmer F, Biskup S, Bartholdi D. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. Clin Genet.… Read More »

Genetics Home Reference: kidney stones

Genetic changes can increase the risk of developing kidney stones, often acting in combination with a variety of environmental and lifestyle factors. Most genes involved in the condition are important for transmitting chemical signals from outside cells to inside cells or transporting materials in and out of cells. These processes help regulate the levels of… Read More »