Notes in 5 Treatment for Genetic Diseases

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Published	07/30/2024	{{c1::Transduction}} refers to {{c2::modification of a bacterial host genome by integrating genetic material introduced by phage infection}}.
Published	07/30/2024	{{c1::Inborn errors of metabolism (IEMs)}} is a group of rare genetic diseases that generally result from a defect in an enzyme or transport prot…
Published	07/30/2024	{{c1::Antimorphic mutation}} is a type of mutation in which the altered gene product possesses an antagonistic (often inactive) function to …
Published	07/30/2024	Obstacles in treating monogenic diseases{{c1::1. Gene is not identified / pathogenesis is not understood}}{{c1::2. Prediagnostic fetal damage}}{{c2::3…
Published	07/30/2024	Disease:G6PD deficiencyMetabolic Intervention: {{c1::Avoidance of antimalarial drugs}}
Published	07/30/2024	Disease:Slow acetylatorsMetabolic Intervention: {{c1::Avoidance of Isoniazid}}
Published	07/30/2024	Disease:PhenylketonuriaMetabolic Intervention: {{c1::Dietary restriction of phenylalanine}}
Published	07/30/2024	Disease:GalatosemiaMetabolic Intervention: {{c1::Dietary restriction of galactose}}
Published	07/30/2024	Disease:Congenital hypothyrodism (monogenic)Metabolic Intervention: {{c1::Thyroxine replacement}}
Published	07/30/2024	Disease:Biotinidase deficiencyMetabolic Intervention: {{c1::Biotin replacement}}
Published	07/30/2024	Disease:Urea cycle disodersMetabolic Intervention: {{c1::Diversion via sodium benzoate}}
Published	07/30/2024	Disease:Familial hypercholesterolemia heterozygotesMetabolic Intervention: {{c1::Diversion via bile acid sequestrants (e.g. colesevelam, Enzyme inhibi…
Published	07/30/2024	Disease:Familial hypercholesterolemia homozygotesMetabolic Intervention: {{c1::Depletion of LDL (LDL apheresis)}}
Published	07/30/2024	Disease:Marfan SyndromeMetabolic Intervention: {{c1::Receptor antagonism via losartan}}
Published	07/30/2024	If a disease is  {{c1::autosomal dominant::inheritance pattern}}, it may be treated by increasing the expression of the normal allele
Published	07/30/2024	{{c1::Precision medicine}} looks at the genetics, environment, and lifestyle of a person in order to select treatment that could work best for them
Published	07/30/2024	Risks of gene therapy{{c1::1. Adverse response to vector or vector-disease combination}}{{c2::2. Insertional mutagenesis causing malignancy}}{{c2::3. …
Published	07/30/2024	Three most widely used classes of viral vectors in gene therapy + 1 bonus:{{c1::1. Retrovirus (8 kb)2. Adeno-associated virus (AAV) (5 kb)3. Adenoviru…
Published	07/30/2024	Retroviruses can accommodates up to how many bases of added DNA?{{c2::8 kb}}
Published	07/30/2024	Adeno-associated viruses can accommodates up to how many bases of added DNA?{{c2::5 kb}}
Published	07/30/2024	Adenovirus can accommodates up to how many bases of added DNA?{{c2::30–35 kb}}
Published	07/30/2024	{{c1::structural genes}} are genes which encode products that serve as cellular structures or enzymes
Published	07/30/2024	{{c1::regulatory genes}} are genes which encode products that regulate gene expression
Published	07/30/2024	In using {{c1::retroviral}} vectors, the {{c2::target cell must divide}} before the virus is integrated into the host DNA
Published	07/30/2024	What class of retroviruses is capable of DNA integration in nondividing cells (e.g. neurons){{c1::Lentivirus}}
Published	07/30/2024	Most genetic disease result from {{c1::loss}} of function mutations
Published	07/30/2024	Example: Increased HbF synthesis in sickle cell disease Molecular Treatment: {{c1::DNA hypomethylation therapy with decitabine}}
Published	07/30/2024	Example: Using danazol in Hereditary angioedema Molecular Treatment: {{c1::Increase geneexpression from the wild-type locus or froma mutant locus with…
Published	07/30/2024	Example: Antisense oligonucleotides in Duchenne muscular dystrophyMolecular Treatment: {{c1::induce skipping of a mutant exon (exon 51) to restore the…
Published	07/30/2024	Example: X-linked Severe Combined ImmunodeficiencyMolecular Treatment: {{c1::Gene therapy}}
Published	07/30/2024	Example: Adenosine deaminase deficiencyMolecular Treatment: {{c1::Gene therapy}}
Published	07/30/2024	Example: Transthyretin AmyloidosisMolecular Treatment: {{c1::RNA interference to decrease the abundance of an mRNA encoding a dominant mutant protein}…
Published	07/30/2024	Example: Lumacaftor to stabilizethe fold of ΔF508 in Cystic FibrosisMolecular Treatment: {{c1::Molecular chaperones to facilitate the folding of mutan…
Published	07/30/2024	Example: Ivacaftor to improve the function of CFTR with the Gly551Asp missense mutation in Cystic FibrosisMolecular Treatment: {{c1::Molecular potenti…
Published	07/30/2024	Example: using factors VIII or IX in HemophiliaMolecular Treatment: {{c1::Protein replacement with the native protein}}
Published	07/30/2024	Example: Enzyme replacement therapy for Gaucher and Fabry diseaseMolecular Treatment: {{c1::Protein replacement with the native protein}}
Published	07/30/2024	Example: PEG-ADA foradenosine-deaminasedeficient SCIDMolecular Treatment: {{c1::Protein replacement using a modified protein}}
Published	07/30/2024	Example: Pyridoxine in classichomocystinuriaMolecular Treatment: {{c1::Cofactor therapy to increase the function or stability of a mutant protein}}
Published	07/30/2024	{{c1::Molecular chaperones}} are proteins that assist the conformational folding or unfolding and the assembly or disassembly of other macromolec…
Published	07/30/2024	What are the various levels of treatment of monogenic diseases? (sorry) {{c1::1. Mutant gene2. Mutant mRNA3. Mutant protein4. Metabolic or other …
Published	07/30/2024	Treatment strategy: Transplantation (e.g., bone marrow transplant in β-thalassemia)Level of intervention: {{c1::Mutant gene}}
Published	07/30/2024	Treatment strategy: Gene therapy (e.g. transfer of the γc cytokine receptor subunit gene of the interleukin receptor in X-linked SCID)Level of interve…
Published	07/30/2024	Treatment strategy: Pharmacological modulation of gene expression (e.g. decitabine to increase Hb F in sickle cell disease)Level of intervention: {{c1…
Published	07/30/2024	Treatment strategy: RNA interference (e.g. RNAi for transthyretin amyloidosis)Level of intervention: {{c1::Mutant mRNA}}
Published	07/30/2024	Treatment strategy: Protein replacement (e.g. GCase administrationin Gaucher disease, factor VIII in hemophilia A)Level of intervention: {{c1::Mutant …
Published	07/30/2024	Treatment strategy: Enhancement of residual function (e.g. pyridoxine in classic homocystinuria)Level of intervention: {{c1::Mutant mRNA}}
Published	07/30/2024	Treatment strategy: Dietary disease-specific compensation (e.g. low-phenylalanine diet in PKU)Level of intervention: {{c1::Metabolic or other biochemi…
Published	07/30/2024	Treatment strategy: Pharmacologic disease-specific compensation (e.g. sodium benzoate in urea cycle defects)Level of intervention: {{c1::Metaboli…
Published	07/30/2024	Treatment strategy: Medical intervention (e.g. transfusion in thalassemia)Level of intervention: {{c1::Clinical phenotype}}
Published	07/30/2024	Treatment strategy: Surgical intervention (e.g. correction of congenital heart disease)Level of intervention: {{c1::Clinical phenotype}}
Published	07/30/2024	Treatment strategy: Genetic counseling (e.g. after child w/ trisomy 21 is born)Level of intervention: {{c1::The family}}
Published	07/30/2024	Treatment strategy: Carrier screening (e.g. for Tay-Sachs disease)Level of intervention: {{c1::The family}}
Published	07/30/2024	Treatment strategy: Presymptomatic diagnosis (e.g. Huntington disease)Level of intervention: {{c1::The family}}
Published	07/30/2024	What treatment strategies fall under this level of intervention: Mutant Gene{{c1::1. Gene editing1. Parial modification of somatic genotype via transp…
Published	07/30/2024	What treatment strategies fall under this level of intervention: Mutant mRNA{{c1::Pharmacological modulation of gene expression*2. RNA interferen…
Published	07/30/2024	What treatment strategies fall under this level of intervention: Mutant protein{{c1::1. Enhancement of residual function (e.g. skipping, correctors, p…
Published	07/30/2024	What treatment strategies fall under this level of intervention: Metabolic or other biochemical dysfunction{{c1::1. Dietary disease-specific compensat…
Published	07/30/2024	What treatment strategies fall under this level of intervention: Clinical phenotype{{c1::1. Medical intervention2. Surgical intervention::2}}
Published	07/30/2024	What treatment strategies fall under this level of intervention: The family{{c1::1. Genetic counseling2. Carrier screening3. Presymptomatic diagnosis:…
Published	07/30/2024	What treatment modality (of metabolic inborn errors) is most commonly used?{{c1::Product replacement}}
Published	07/30/2024	Types of treatment of genetic disease via metabolic intervention (sorry){{c1::1. Avoidance}}{{c1::2. Dietary restriction}}{{c2::3. Diversion}}{{c2::4.…
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