chromosomal, micro array analysis
A technique that detects, small deletions and copy number variance in chromosomes
enzyme replacement therapy
infusion of a recombinant human enzyme to compensate for a deficient or absent enzyme in a single gene disease
episome
A small circle of DNA in the nucleus separate from the chromosomes
ex vivo gene therapy
Gene therapy that delivers a wild type gene two cells outside of the body, and then the cells are infused into the body
Gene editing
adding removing or replacing a gene with a copy with a different DNA sequence using a tool such as CRISPR
Gene therapy
adding a wild type copy of a gene to a cell in which the gene is mutant
genetic counselor
A clinician who calculates risks of inherited disorders in families applying the laws of inheritance to pedigrees and interpreting genetic test results
Germline gene therapy
genetic alteration of a gait or fertilized ovum, which perpetuates the change throughout the organism and transmit it to future generations
in vivo gene therapy
Introduction of vectors carrying therapeutic human genes directly into a body part
pharmacogenetics
Testing for variants of a gene that affect metabolism of a specific drug
Pharmacogenomics
Testing for variants of many genes or gene expression patterns that affect metabolism of a specific drug
pharmacological chaperone therapy
An oral drug that binds a misfiled enzyme, stabilizing it sufficiently to permit some function
pre-implantation genetic diagnosis
Removing a cell from an early embryo and testing it for a mutation to deduce the genotype of the embryo
somatic gene therapy
Genetic alteration of a specific cell type, which is not transmitted to future generations
substrate reduction therapy
An oral drug that reduces the level of substrate so that an enzyme can function more effectively
