A therapeutic procedure in which a treatment directly or indirectly compensates for the loss or gain of activity of a genetically defective protein within the network or pathway of which that protein is a member. [PNS]
complementation therapy
A therapeutic procedure in which a genetically defective protein is replaced by a canonical source of the same protein, genetically as in gene therapy, or by some other means of delivery, whose completion is hypothesized by a health care provider to eliminate a disorder or to alleviate the signs and symptoms of a disorder or pathological process. [PNS]
leechuck
2019-07-15T10:19:07Z
direct complementation of genetically defective protein
A therapeutic procedure which directly addresses the effects of a protein defect produced by the mutation, its structure, activity or end product. Therapies which target the local interaction or regulatory network or pathway in which the affected proten lies are also regarded as mechanistic therapies. [PNS]
leechuck
2019-07-15T17:59:32Z
mechanistically predicated therapeutic procedure
A therapeutic procedure in which the normal product of a defective enzyme or protein is provided to alter its concentration or availability by delivery, stabilisation or modulation of turnover. [PNS]
leechuck
2019-07-15T18:02:30Z
compensatory complementation of a genetically defective protein
A therapeutic procedure in which the composition or metabolic activity of the pathway or network in which the defective protein is found is modified, compensating for alteration of activity of that protein. [PNS]
leechuck
2019-07-15T18:03:22Z
functional complementation of a genetically defective protein
A therapeutic procedure in which the diet is supplemented with or depleted in molecules closely related to the products or end processes of a genetically defective protein which occur as natural products in the diet. [PNS]
leechuck
2019-07-15T18:03:52Z
dietary regime modification
A therapeutic procedure in which the diet is depleted in molecules closely related to the products or end processes of a genetically defective protein which occur naturally in the diet. [PNS]
leechuck
2019-07-15T18:04:24Z
dietary exclusion
A therapeutic procedure in which the diet is supplemented with foodstuffs containing molecules closely related to the products or end processes of a genetically defective protein, which occur naturally in the diet. [PNS]
leechuck
2019-07-15T18:04:54Z
dietary supplementation
A therapeutic procedure involving enteral, parenteral or transdermal provision of small molecules closely related to the products or end processes of a genetically defective protein. [PNS]
leechuck
2019-07-15T18:06:25Z
metabolite replacement
A therapeutic procedure in which generally small molecules are delivered to the organism in order to to directly increase, decrease or alter the activity or stability of a genetically defective protein.[PNS]
leechuck
2019-07-15T18:07:23Z
activity modification of a genetically defective protein
A therapeutic procedure aimed at amelioration of one or more abnormal phenotypes generated as a consequence of a defective protein or process by a means unrelated to the immediate pathway or network environment of the defective protein. Generally working at the level of the tissue or overall organismal physiology. [PNS]
leechuck
2019-07-15T18:07:49Z
symptomatic treatment procedure
A therapeutic procedure to mitigate the immediate or future effects of the presence of a genetically defective protein which involves physical conditioning or anatomical modification.[PNS]
leechuck
2019-07-15T18:08:30Z
surgical or physical treatment procedure
A therapeutic procedure that inhibits a component of the pathway or network in which a genetically defective protein is found, compensating for alteration of activity of that protein.[PNS]
leechuck
2019-07-15T18:08:56Z
functional complementation of a defective protein by inhibition
A therapeutic procedure that stimulates a component of the pathway or network in which a genetically defective defective protein is found, compensating for alteration of activity of that protein. [PNS]
leechuck
2019-07-15T18:09:20Z
functional complementation or a defective protein by stimulation
Modulation of the level or specificity of expression of a genetically defective gene through modification of an epigenetic mark or process using chemical, biological or genetic means.
https://orcid.org/0000-0002-5111-7263
activity modification of a genetically defective protein by epigenetic manipulation
Modulation of the activity or stability of a genetically defective gene through direct modification of one or both endogenous alleles of the gene, using genome editing techniques such as CRISPR/Cas
https://orcid.org/0000-0002-5111-7263
activity modification of a genetically defective protein by genome editing
any procedure designed to suppress or mitigate the effects of a recessive genetic change in an abnormal protein by modification of its transcription or translation, excluding those strategies which involve epigenetic modification or modification of the germline or somatic genome sequence. For example an abnormal Vmax of reaction, alteration of KM, failure to respond to positive feedback, acquisition of neofunction.
modification of the amount or stability of a transcript or the efficiency of translation of a transcript in order to reduce or increase the expression of a genetically abnormal protein.
ORCID: 0000-0002-5111-7263
3.10.19
activity modification of a genetically defective protein by transcriptional or translational modification
Insertion of one or more normal copies of a genetically defective gene into the genome of affected cells.
https://orcid.org/0000-0002-5111-7263
direct complementation of a genetically defective protein by gene therapy
a treatment strategy or plan which the clinician beleives will cure or ameliorate a disease caused by a deleterious genetic variation in a patient, affecting their metabolism. It may modify some or all of its signs or symptoms, or alter the prognosis and course of the disease, either by severity, timecourse or phenotypic quality.
https://orcid.org/0000-0002-5111-7263
metabolic disease treatment
a procedure to suppress or mitigate the effects of a dominant alteration in a genetically abnormal protein by reducing or suppressing transcription or translation of the abnormal protein gene or rna, or destabilising or otherwise inhibiting an abnormally increased activity or neoactivity of the abnormal protein.
ORCID: 0000-0002-5111-7263
4.10.19
procedure to mitigate dominant effects of a genetically abnormal protein