Kathy Giacomini, PhD, BSPharm

Dean-School of Phrmcy/AssocVC
P_Dean's Office
[email protected]
+1 415 476-8010

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.

Publications

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

Response to Comment on Dawed et al. Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas. Diabetes Care 2021;44:2673-2682.

Diabetes care

Dawed AY, Yee SW, Zhou K, van Leeuwen N, Zhang Y, Siddiqui MK, Etheridge A, Innocenti F, Xu F, Li JH, Beulens JW, van der Heijden AA, Slieker RC, Chang YC, Mercader JM, Kaur V, Witte JS, Lee MTM, Kamatani Y, Momozawa Y, Kubo M, Palmer CNA, Florez JC, Hedderson MM, 't Hart LM, Giacomini KM, Pearson ER, for MetGen Plus, for the DIRECT Consortium, Ewan Pearson, Adem Dawed, Kaixin Zhou, Rury Holman, Ruth Coleman, Leen ‘t Hart, Roderick Slieker, Joline Beulens, Amber van der Heijden, Giel Nijpels, Petra Elders, Femke Rutters, Bruno Stricker, Fariba Ahmadizar, Catherine de Keyser, Adriaan Koov, Mattijs Out, Janis Klovinš, Linda Zaharenko, Martin Javorsky, Ivan Tkac, Jose Florez, Kathy Giacomini, Sook Wah Yee, Monique Hedderson, Michiaki Kubo, Alison Motsinger-Reif, Michael Wagner, Sabina Semiz, Tanja Dujic, Mette Christensen, Kim Brøsen, Dawn Waterworth, Meg Ehm, Ronald Ma, Bruce Psaty, James Floyd

Scientific considerations for global drug development.

Science translational medicine

Wilson JL, Cheung KWK, Lin L, Green EAE, Porrás AI, Zou L, Mukanga D, Akpa PA, Darko DM, Yuan R, Ding S, Johnson WCN, Lee HA, Cooke E, Peck CC, Kern SE, Hartman D, Hayashi Y, Marks PW, Altman RB, Lumpkin MM, Giacomini KM, Blaschke TF

Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin.

Nature genetics

Zhou K, Yee SW, Seiser EL, van Leeuwen N, Tavendale R, Bennett AJ, Groves CJ, Coleman RL, van der Heijden AA, Beulens JW, de Keyser CE, Zaharenko L, Rotroff DM, Out M, Jablonski KA, Chen L, Javorský M, Židzik J, Levin AM, Williams LK, Dujic T, Semiz S, Kubo M, Chien HC, Maeda S, Witte JS, Wu L, Tkác I, Kooy A, van Schaik RHN, Stehouwer CDA, Logie L, Sutherland C, Klovins J, Pirags V, Hofman A, Stricker BH, Motsinger-Reif AA, Wagner MJ, Innocenti F, 't Hart LM, Holman RR, McCarthy MI, Hedderson MM, Palmer CNA, Florez JC, Giacomini KM, Pearson ER

A research roadmap for next-generation sequencing informatics.

Science translational medicine

Altman RB, Prabhu S, Sidow A, Zook JM, Goldfeder R, Litwack D, Ashley E, Asimenos G, Bustamante CD, Donigan K, Giacomini KM, Johansen E, Khuri N, Lee E, Liang XS, Salit M, Serang O, Tezak Z, Wall DP, Mansfield E, Kass-Hout T

Phase I Study of Vorinostat as a Radiation Sensitizer with 131I-Metaiodobenzylguanidine (131I-MIBG) for Patients with Relapsed or Refractory Neuroblastoma.

Clinical cancer research : an official journal of the American Association for Cancer Research

DuBois SG, Groshen S, Park JR, Haas-Kogan DA, Yang X, Geier E, Chen E, Giacomini K, Weiss B, Cohn SL, Granger MM, Yanik GA, Hawkins R, Courtier J, Jackson H, Goodarzian F, Shimada H, Czarnecki S, Tsao-Wei D, Villablanca JG, Marachelian A, Matthay KK

A genome-wide association study of bronchodilator response in Latinos implicates rare variants.

The Journal of allergy and clinical immunology

Drake KA, Torgerson DG, Gignoux CR, Galanter JM, Roth LA, Huntsman S, Eng C, Oh SS, Yee SW, Lin L, Bustamante CD, Moreno-Estrada A, Sandoval K, Davis A, Borrell LN, Farber HJ, Kumar R, Avila PC, Brigino-Buenaventura E, Chapela R, Ford JG, Lenoir MA, Lurmann F, Meade K, Serebrisky D, Thyne S, Rodríguez-Cintrón W, Sen S, Rodríguez-Santana JR, Hernandez RD, Giacomini KM, Burchard EG

PharmGKB summary: methotrexate pathway.

Pharmacogenetics and genomics

Mikkelsen TS, Thorn CF, Yang JJ, Ulrich CM, French D, Zaza G, Dunnenberger HM, Marsh S, McLeod HL, Giacomini K, Becker ML, Gaedigk R, Leeder JS, Kager L, Relling MV, Evans W, Klein TE, Altman RB

Comparison of human solute carriers.

Protein science : a publication of the Protein Society

Schlessinger A, Matsson P, Shima JE, Pieper U, Yee SW, Kelly L, Apeltsin L, Stroud RM, Ferrin TE, Giacomini KM, Sali A

Membrane transporters in drug development.

Nature reviews. Drug discovery

Giacomini KM, Huang SM, Tweedie DJ, Benet LZ, Brouwer KL, Chu X, Dahlin A, Evers R, Fischer V, Hillgren KM, Hoffmaster KA, Ishikawa T, Keppler D, Kim RB, Lee CA, Niemi M, Polli JW, Sugiyama Y, Swaan PW, Ware JA, Wright SH, Yee SW, Zamek-Gliszczynski MJ, Zhang L

Pharmacogenomics: challenges and opportunities.

Annals of internal medicine

Roden DM, Altman RB, Benowitz NL, Flockhart DA, Giacomini KM, Johnson JA, Krauss RM, McLeod HL, Ratain MJ, Relling MV, Ring HZ, Shuldiner AR, Weinshilboum RM, Weiss ST