Last Updated: May 20, 2024 Triplet Expansion Disorders The trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders or triplet repeat expansion disorders) represent a family of genetic disorders caused by an increase in the number of...
Last Updated: September 15, 2022 BRCA1 Gene and Protein Functions The BReast CAncer 1, early onset gene (BRCA1) which encodes the breast cancer type 1 susceptibility protein was originally identified in 1994 as a causative gene in hereditary breast and ovarian...
Last Updated: September 15, 2022 Introduction to Xeroderma Pigmentosum Xeroderma pigmentosum defines a class of autosomal recessive inherited diseases that are characterized clinically by sun sensitivity that results in progressive degeneration of sun exposed areas of...
Last Updated: October 7, 2023 Introduction to Ataxia Telangiectasia Ataxia telangiectasia (AT) is an autosomal recessive disorder that is characterized by hypersensitivity to ionizing radiation, progressive truncal ataxia affecting the gait with onset by 1 to 3 years...
Last Updated: September 15, 2022 Introduction to Imprinting Genomic imprinting refers to a genetic phenomenon whereby there is preferential expression of a gene from only one of the two parental alleles. This phenomenon of allele-specific expression results from...
Last Updated: August 25, 2022 Introduction to Friedreich Ataxia Friedreich ataxia (FRDA) is an autosomal recessive disease named for Nicholas Friedreich who, in 1863, described a degenerative atrophy of the posterior columns of the spinal cord that resulted in a...