Earlier this year, in a prospective trial of adolescents with generalized anxiety disorder, Dr. Strawn and collaborators demonstrated that pharmacogenomic markers (i.e., CYP2C19 phenotypes, HTR2A genotypes) predict escitalopram treatment response in anxious youth as well as weight gain and activation—two very important side effects that are commonly encountered with SSRI treatment in adolescents. He is interested in the potential utility of pharmacogenetically-guided antidepressant treatment for the most common and serious treatment-limiting side effects of SSRIs in in pediatric patients and as a means to improve response.
He is a member of the GTEx Consortium, having served as co-chair of the GWAS Working Group, and the T2D-GENES Consortium. He is on the Editorial Board of Circulation Research, a journal of the American Heart Association. A faculty member of Vanderbilt Genetics Institute, he is a Life Member of Clare Hall, University of Cambridge, with an honorary scientist post in Cambridge University's MRC Epidemiology Unit. He is a recipient of the inaugural NIH Genomic Innovator Award (https://www.nih.gov/news-events/news-releases/nih-announces-six-inaugural-genomic-innovator-awards).
A better understanding of the genetic underpinnings of these traits may improve the pharmacogenetic optimization of smoking cessation treatment, which would in turn reduce the enormous societal and personal costs associated with smoking.
Dr. Cairns has also led the application of computational and experimental system pharmacology to explain therapeutic outcomes, including the development of a network platform to connect drug response and prognosis phenotypes and the application of machine learning approach under the Mayo- University of Illinois at Urbana-Champaign (UIUC) collaboration program to handling genomic data to study the mechanism of therapeutic agents and their response in cancer. These approaches considered complementary or alternative to conventional Genome –wide association approach, and have been used successfully to generate hypotheses related to drug response.
As a part of CPIC, Dr. Uppugunduri is involved in the development of a clinical guidelines for personalized proton pump inhibitor dosing based on CYP2C19 gene (in development). He is also a member of the educational division of European Society of Pharmacogenomics and Personalized Therapy (ESPT). Dr. Uppugunduri is involved in knowledge dissemination via virtual platforms for e.g. he founded a forum on personalized medicine earlier in nature work, and currently available at www.personalizedmedicine.in to engage researchers with similar interests and to have a dialogue.
Dr. Uppugunduri is currently working at Onco-Hematology unit, Department of Paediatrics, Gynaecology and Obstetrics, University of Geneva. He is also affiliated to a foundation supporting the research in pediatric onco-hematology (www.cansearch.ch). Dr. Uppugunduri is a recognized Clinical Pharmacologist (NON MD title by Swiss Society of Clinical Pharmacology and Toxicology) and participates in the implementation of therapeutic drug monitoring. He works with multidisciplinary team at his unit and laboratory, has strong collaboration with the teams of Clinical Pharmacology and Toxicology Division (https://www.hug-ge.ch/pharmacologie-toxicologie-cliniques) at University Hospitals of Geneva (University of Geneva). Dr. Uppugunduri is working with the objective of developing, evaluating, interpreting new/existing pharmacogenetics markers with clinical utility. He is also participating in teaching /education of medical doctors/allied health professionals in training on topics in clinical pharmacology and pharmacogenetics.
Dr. Chiara Fabbri is also a psychiatrist and she has worked mostly with patients having mood disorders at Bologna University (Italy) and in London (Affective Disorders Service, Maudsley Hospital). Knowing the clinical presentations of mood disorders and having direct contact with patients represent a great help in her everyday research work, in terms of motivation and expertise.
I have performed several retrospective analyses of clinical trial datasets to discover pharmacogenetic, pharmacokinetic, and pharmacometabolomic predictors of paclitaxel-induced peripheral neuropathy and am currently collecting and analyzing larger cooperative group clinical trial cohorts to validate these findings. One ongoing project that I am particularly excited is using our previously published neuropathy prediction model, which includes paclitaxel pharmacokinetics and dosing, and attempting to introduce genetics to explain residual variability in the “neuropathy sensitivity” phenotype. I also have ongoing work in the pharmacogenetics of hormonal treatment in breast cancer. I am currently leading a meta-analysis of all patient cohorts that have tamoxifen pharmacokinetic data and CYP2D6 genetic data to generate an endoxifen prediction algorithm and empirically derive estimates of the percentage activity of individual CYP2D6 alleles. I hope that this project will improve the accuracy of translating CYP2D6 genotype into predicted activity phenotype and produce a percentage phenotypic activity that is more intuitive for clinicians.
He is the co-editor of Pharmacogenomics: Challenges and Opportunities in Therapeutic Implementation (2nd edition), and his notable honors include the 2011 William Bowes Jr Award in Medical Genetics from Partners HealthCare Center for Personalized Genetic Medicine, and the 2012 Dr. Harold and Golden Lamport Research Award from the Icahn School of Medicine at Mount Sinai.
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