Institutional profile: Karolinska Institutet.

Area of Science:

• Pharmacogenomics
• Translational Research
• Clinical Pharmacology

Background:

• Karolinska Institutet (KI) has a 25-year history of intensive pharmacogenomics research.
• Early work focused on identifying novel CYP2D6 alleles impacting drug metabolism.
• Access to phenotyped individuals and early therapeutic drug monitoring facilitated discoveries.

Purpose of the Study:

• To highlight the extensive research and translational efforts in pharmacogenomics at KI.
• To showcase the discovery and validation of genetic variants influencing drug metabolism.
• To emphasize the role of clinical pharmacology and new research centers in advancing the field.

Main Methods:

• Identification and characterization of novel genetic alleles (e.g., CYP2D6, CYP2C19, UGT2B17).
• Functional characterization and clinical validation of allelic variants.
• Therapeutic drug monitoring and in vitro studies using human hepatocytes.

Main Results:

• Discovery of numerous novel polymorphisms affecting drug metabolism.
• Successful functional and clinical validation of identified genetic variants.
• Establishment of a leading clinical pharmacology laboratory for therapeutic drug monitoring.

Conclusions:

• KI's sustained investment in pharmacogenomics has yielded significant advancements in understanding drug metabolism.
• Translational research integrating clinical data and laboratory findings is crucial for pharmacogenetic discoveries.
• New facilities provide enhanced opportunities for studying drug metabolism and toxicity.