ClinPGx Blog (Page 35)

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New PharmGKB VIP Summary: CYP4F2

Cytochrome p450, family 2, subfamily F, polypeptide 2 (CYP4F2) is known to catalyze multiple biological reactions. It is predominantly expressed in the liver and kidneys, although there is evidence that it is also expressed in the intestines. Of specific interest in pharmacogenetics, hepatic CYP4F2 regulates the bioavailability of vitamin K

Introducing CFTR as a Very Important Pharmacogene (VIP)

Variants within the CFTR gene underlie Cystic Fibrosis (CF). Traditionally, drugs used in the treatment of this disease have focused on ameliorating symptoms, fighting infection, thinning mucus and dampening inflammation. Now, drug development is focusing on pharmaceuticals that correct the underlying CFTR defect. The PharmGKB CFTR VIP summary describes potential

CPIC simvastatin & SLCO1B1 guideline 2014 update published

The 2014 update of CPIC guideline regarding SLCO1B1 and simvastatin-induced myopathy, has been published in Clinical Pharmacology and Therapeutics. CPIC extensively reviewed the literature from February 2011 to December 2013 and concluded that the dosing recommendations provided in the 2012 CPIC guideline for SLCO1B1 and simvastatin-induced myopathy have not changed.

New publication: PharmGKB Uric acid-lowering drugs pathway

Disorders involving uric acid levels are prevalent (e.g. gout, hyperuricemia and resultant kidney failure) and pharmaceuticals that reduce the generation, increase the removal or prevent the absorption of uric acid have been developed to treat these disorders. Two PharmGKB pathways depicting the mechanism of action of these drugs and

Big Data Conference Videos

Videos of the talks at the Stanford Big Data Conference 2014 are now available to watch online (view agenda). A selection of our favorite talks that are currently available to watch: * Michelle Whirl-Carrillo (Associate Director of PharmGKB, Stanford University) discusses the benefits and barriers of implementing pharmacogenetics into a patient&

New publication: NAT2 VIP Summary

The PharmGKB Very Important Pharmacogene (VIP) summary for NAT2 has been published in Pharmacogenetics & Genomics. The review summarizes the important role NAT2 plays in the metabolism and detoxification of many therapeutic drugs, and why genetic variants within the NAT2 gene are associated with drug-induced toxicity as well as cancer.

Tramadol pathway summary published in PG&G

Tramadol is a centrally acting opioid analgesic used to relieve moderate to severe pain. It is administered as a racemic mixture of (+) and (-) enantiomers and exerts its analgesic effect via activating the µ-opioid receptor and inhibiting the neurotransmitter reuptake. Tramadol metabolism to its major active metabolite O-desmethyl tramadol (M1)

Big Data Conference 2014

Stanford University are hosting the second Big Data in Biomedicine conference this week, featuring speakers across academia, industry and government. PharmGKB's Associate Director will be discussing Genomic Medicine on Friday 23rd May with other speakers leading in this field. Watch the live stream of the Big Data in

Update: CPIC ivacaftor-CFTR guideline

The CPIC guideline for ivacaftor treatment based on CFTR genotype has been updated on PharmGKB, in light of changes to the FDA-approved drug label. Originally, ivacaftor was indicated only in patients with the G551D variant. This has now been extended to other variants that result in CFTR gating defects: * G1244E

New CPIC Guideline: G6PD & Rasburicase

CPIC has published therapeutic guidelines for rasburicase based on G6PD genotype. Rasburicase is a drug that lowers uric acid levels and is used to treat or prevent hyperuricemia in cancer patients undergoing chemotherapy, and in newborns to prevent kidney damage. It is contraindicated for use in patients with G6PD deficiency