Kathy Giacomini, PhD, BSPharm

Co-Principal Investigator, UCSF-Stanford Center of Excellence in Regulatory Science and Innovation
Professor
Department of Bioengineering and Therapeutic Sciences
+1 415 476-8010
Research Description: 

The Giacomini research group focuses on expanding our understanding of membrane transporters. Membrane transporters are of great biological and pharmacological importance, as they play a major role in human physiology and in drug disposition and response. Major questions addressed in the laboratory include: What is the function of orphan membrane transporters? What is the in vivo role of membrane transporters in the disposition of endogenous solutes as well as in drug disposition and response? How does genetic variation in membrane transporters affect solute disposition, human disease and drug response? What are the structural determinants of specificity?

Dr. Kathy Giacomini is leading an effort to deorphan transporters in the Solute Carrier 22 Family, and to determine the clinical implications of specific genetic variants in membrane transporters. Research ventures, ranging from basic discovery to clinical studies, have demonstrated that common variants of membrane transporters contribute to differences in drug response in ethnically diverse populations. Ultimately, these studies will increase our knowledge of the genetic basis underlying drug response and will contribute to advancing the era of personalized medicine. Furthermore, our studies will elucidate the genetic mechanisms of decreased drug response and, ultimately, contribute to improving drug design for safe and effective treatments of subgroups of patients who do not respond to standard treatments.

Research in the laboratory focuses on drugs used in the treatment of diseases associated with metabolic syndrome. We are particularly interested in identifying the genetic determinants of the anti-diabetic drugs, metformin and sulfonylureas, highly prescribed drugs. In particular, our research focuses on discovering functional genetic variants that underlie variation in response to these drugs in large ethnically diverse patient populations. Finally, Kathy Giacomini and her collaborator, Russ Altman of Stanford University are the Co-PIs of the UCSF–Stanford Center of Excellence in Regulatory Sciences and Innovation (CERSI) funded by the Food and Drug Administration (FDA). Established in 2014 and renewed in 2021, the UCSF-Stanford CERSI aims to advance the field of regulatory sciences and improve the development and evaluation of diagnostics, therapeutics and medical devices. The UCSF-Stanford CERSI is the first FDA funded CERSI on the west coast and seeks to address key challenges related to education and research that will advance the discovery and development of medical products.

DEI Statement: As a biracial woman faculty member with ancestries in the Philippines and Europe, I am deeply committed to issues of diversity, equity and inclusion. I am a strong advocate for graduate students and postdocs of diverse ancestries and particularly under-represented minorities (URM). In my career, I have been the academic advisor for students who are URMs and who now have vibrant careers in academia and industry. My mentoring style is very personal. That is, I tailor my advising of each trainee to their career goals and aspirations, helping them to achieve these goals. On the recommendation of my students, I have institute diversity presentations as part of our regularly scheduled research group meetings. We begin each research group meeting with a diversity presentation, given by an individual group member, who describes some aspect of their cultural background. These are fun and educational and build an inclusive and welcoming environment in my laboratory. As the co-PI of the UCSF-Stanford Center of Excellence in Regulatory Sciences and Innovation, CERSI, we established a CERSI Diversity Scholars Program in 2021 and have now made four awards to the scholars (students or postdocs) at UCSF from diverse ethnic backgrounds. My personal goal is to promote diversity, equity and inclusion at UCSF.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Cancer Biology & Cell Signaling
Research Summary: 
Pharmacogenomics of Membrane Transporters

Websites

Publications: 

Therapeutic Orphan No More: Role for Clinical Pharmacology and Translational Science in Developing Therapeutics for Rare and Neglected Diseases.

Clinical pharmacology and therapeutics

Ramamoorthy A, Younis I, Wen YF, Mehanna M, Giacomini KM, van der Graaf PH

Publisher Correction: A genome-wide association analysis reveals new pathogenic pathways in gout.

Nature genetics

Major TJ, Takei R, Matsuo H, Leask MP, Sumpter NA, Topless RK, Shirai Y, Wang W, Cadzow MJ, Phipps-Green AJ, Li Z, Ji A, Merriman ME, Morice E, Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T, Golovina E, O'Sullivan JM, Stamp LK, Dalbeth N, Abhishek A, Doherty M, Roddy E, Jacobsson LTH, Kapetanovic MC, Melander O, Andrés M, Pérez-Ruiz F, Torres RJ, Radstake T, Jansen TL, Janssen M, Joosten LAB, Liu R, Gaal OI, Crisan TO, Rednic S, Kurreeman F, Huizinga TWJ, Toes R, Lioté F, Richette P, Bardin T, Ea HK, Pascart T, McCarthy GM, Helbert L, Stiburková B, Tausche AK, Uhlig T, Vitart V, Boutin TS, Hayward C, Riches PL, Ralston SH, Campbell A, MacDonald TM, FAST Study Group, Nakayama A, Takada T, Nakatochi M, Shimizu S, Kawamura Y, Toyoda Y, Nakaoka H, Yamamoto K, Matsuo K, Shinomiya N, Ichida K, Japan Gout Genomics Consortium, Lee C, Asia Pacific Gout Consortium, Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S, Smith MD, Rischmueller M, Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J, Giacomini KM, Brackman DJ, Jorgenson EM, GlobalGout Genetics Consortium, Liu H, Susztak K, 23andMe Research Team, Shringarpure S, So A, Okada Y, Li C, Shi Y, Merriman TR

A genome-wide association analysis reveals new pathogenic pathways in gout.

Nature genetics

Major TJ, Takei R, Matsuo H, Leask MP, Sumpter NA, Topless RK, Shirai Y, Wang W, Cadzow MJ, Phipps-Green AJ, Li Z, Ji A, Merriman ME, Morice E, Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T, Golovina E, O'Sullivan JM, Stamp LK, Dalbeth N, Abhishek A, Doherty M, Roddy E, Jacobsson LTH, Kapetanovic MC, Melander O, Andrés M, Pérez-Ruiz F, Torres RJ, Radstake T, Jansen TL, Janssen M, Joosten LAB, Liu R, Gaal OI, Crisan TO, Rednic S, Kurreeman F, Huizinga TWJ, Toes R, Lioté F, Richette P, Bardin T, Ea HK, Pascart T, McCarthy GM, Helbert L, Stiburková B, Tausche AK, Uhlig T, Vitart V, Boutin TS, Hayward C, Riches PL, Ralston SH, Campbell A, MacDonald TM, FAST Study Group, Nakayama A, Takada T, Nakatochi M, Shimizu S, Kawamura Y, Toyoda Y, Nakaoka H, Yamamoto K, Matsuo K, Shinomiya N, Ichida K, Japan Gout Genomics Consortium, Lee C, Asia Pacific Gout Consortium, Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S, Smith MD, Rischmueller M, Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J, Giacomini KM, Brackman DJ, Jorgenson EM, GlobalGout Genetics Consortium, Liu H, Susztak K, 23andMe Research Team, Shringarpure S, So A, Okada Y, Li C, Shi Y, Merriman TR

Is Pharmacogenetic Testing a Vital Tool for Enhancing Therapeutic Management of Patients Worldwide?

Clinical pharmacology and therapeutics

Giacomini KM, van der Graaf PH

Rare Diseases Linked to Mutations in Vitamin Transporters Expressed in the Human Blood-Brain Barrier.

Clinical pharmacology and therapeutics

Yee SW, Wang J, Giacomini KM