Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Sickle cell disease (SCD) is a group of hereditary red blood cell disorders. Sickle cell anemia is a type of SCD that occurs when a person inherits genes containing an atypical form of hemoglobin.

Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

A common mutation in the KRAS gene is associated with improved overall survival in pancreatic ductal adenocarcinoma (PDAC) compared with other variants, in part because the mutation appears to lead to ...

Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes. This report describes a case with hepatocyte nuclear factor 1-alpha ( HNF1A )-MODY due to a novel ...