Genomics Final

Betibeglogene autotemcel (Zynteglo®)

One-time in vitro HSC therapy to treat beta-thalassemia (lack Hb --> anemia)

Voretigene neparvovec (Luxturna®)

In vivo gene therapy--> functional RPE5 cDNA into retina for dystrophy (rAAV2)

Onasemnogene abeparvovec (Zolgensma®)

In vivo gene therapy delivering functional SMN1 gene to motor neurons (AAV9)

CAR T-cell therapies tisagenlecleucel (KYMRIAH®) and axicabtagene ciloleucel (YESCARTA®)

Reprogramming patient’s T cells to produce chimeric antigen receptor (CD19)

Patisiran (Onpattro®)

siRNA/RISC complex to block gene for hATTR amyloidosis

Nusinersen (Spinraza®)

Alters splicing of exon 7 in SMN2 gene for SMA

Eteplirsen (Exondys 51®)

Alters exon 51 truncating for Duchenne Muscular dystrophy

Human insulin (Humulin®)

Synthetic insulin to lower blood glucose/glucose uptake

Insulin aspart (Novolog®)

FAST acting synthetic insulin to lower blood glucose

Insulin glargin (Lantus®)

LONG-acting synthetic insulin to lower blood glucose (C-terminals added)

Epoetin (Epogen®)

Protein hormone that stimulates RBC production in bone marrow for anemia

Filgrastim (Neupogen®) and Pegfilgrastim (Neulasta®)

CSF that stimulates neutrophil production to treat neutropenia

Alglucosidase alpha (Myozyme®) and Alglucosidase alpha-ngpt (Nexviazyme®) and Cipaglucosidase alfa-atga(Pombiliti®) + Miglustat (Opfolda®)

Delivers functional alpha glucosidase by presenting mannose for internalization so that glycogen can be broken down and metabolized/excreted

Certolizumumab (Cimzia®)

Binds to TNF-a to suppress pro-inflammatory properties

Trastuzumab (Herceptin®)

Blocks extracellular domain of HER2 cells

Pertuzumab (Perjeta®)

Blocks dimerization arm of HER2 cell

Trastuzumab emtansine (Kadcyla®)

Combo drug with DM1--> a microtubule depolarizing agent

Nivolumab (Opdivo®) and Pembrolizumab (Keytruda®)

Bind to PD-1 receptor on T-cell to prevent inhibition by tumor cell

Primaquine

Antimalarial; If given to G6PD deficient people--> hemolytic anemia

Rifampicin

Prevents initiation of RNA synthesis for TB. From streptomyces

Streptomycin

Inhibits initiation and causes misreading of mRNA in bacteria

Tetracycline

Binds to 30s subunit/inhibits binding of amino-acyl tRNAs

Chloramphenicol

Inhibits peptidyl transferase activity of 50s ribosomal subunit in bacteria

Erythromycin

Binds to 50s subunit and inhibits translocation in bacteria

Cisplatin

Platinum alkylating analog treats testicular cancer--> DNA cross-links

Warfarin

Anticoagulant that inhibits VKORC1 --> depleting vit k needed for clotting

BRACAnalysis CDx

Identifies deleterious mutations in genes to determine cancer treatment

Nortriptyline

Tricyclic antidepressant inhibits 5-HT/NE reuptake at pre-synapse (SERT/NET)

Sulfasalazine

5-ASA decreases COX/LOX pathways (prostaglandins) in gut for UC

Sorivudine

Inhibits viral DNA synthesis--> BVU byproduct toxic when using 5-FU

Fluorouracil

Converted to fDUMP which inhibits thymidylate synthase, disrupting de novo synthesis of thymidine