Josh Knowles is a physician-scientist, and the overall theme of his research has been understanding the genetic basis of cardiovascular disease. His work stretches across the scientific continuum from Discovery, to the development of Model Systems, to the Translation of these findings to clinical applications, and most recently to the Public Health aspect of genetics. Josh completed his MD-PhD at UNC with Prof. Nobuyo Maeda and Nobel Laureate Oliver Smithies. He did Internal Medicine residency and Cardiology fellowship training at Stanford working with Dr. Tom Quertermous. Currently, his Discovery and basic Translational efforts center on understanding the genetic basis of insulin resistance using GWAS studies coupled with exploration in model systems. His clinical translational focus is on Familial Hypercholesterolemia (FH), and he is the volunteer Chief Medical Advisor of the FH Foundation (FHF), which is a patient-led organization dedicated to increasing awareness of FH, identifying and treating patients with FH, and screening family members to prevent deleterious outcomes. He helped lead the FHF efforts to establish a national patient registry (CASCADE FH) and to apply for an ICD10 code for FH, and he is now using cutting-edge “big-data” approaches to identify previously undiagnosed FH patients in electronic medical records (FIND FH). He has published over 90 papers with research projects currently funded by the National Institutes of Health, the American Heart Association, and the Doris Duke Charitable Foundation.
View Josh's biosketch here.
Basic Research Team
Ivan completed his Ph.D. at the University of the Basque Country where he studied the signaling pathways regulating the balance between self-renewal and differentiation of human mesenchymal stem cells (MSCs), and the characterization of human cord blood-derived hematopoietic stem cells (HSCs). During his postdoctoral appointment in the Quertermous lab in Cardiovascular Medicine at Stanford, he developed a large-scale inducted pluripotent stem cell (iPSC) library to model insulin sensitivity in vitro, and he described the determinants of iPSC transcriptional variability. Currently in the Knowles lab, his research focuses on understanding the genetic basis of insulin resistance and the associated cardiometabolic traits through the combination of different approaches: i) unraveling novel candidate genes through the intersection of colocalization and perturbation analyses, ii) developing the existing iPSC library for network-based modeling, and iii) performing functional screens incorporating CRISPR-based gene modification and single cell sequencing in skeletal muscle cells. - You can view Ivan's publications here.
Chong is a senior research scientist. She is a cell and molecular biologist with extensive research experience in genome engineering and high-throughput screening based on CRISPR/Cas9 technology. She is working on large scale genetic screening and epigenomics projects to identify and characterize causal genes of insulin resistance and related cardiometabolic disease. Before joining Stanford Cardiovascular Medicine in 2017, she had managed several core facilities at UCSF, including the ES Cell Targeting Core and IGI CRISPR Screening Core. Chong obtained her BS and MS in Biology from Sogang University in Korea and her Ph.D. in Biochemistry and Molecular Biology from SUNY Stony Brook. As a postdoctoral fellow, she investigated the role of Smads signaling during dorsoventral axis formation in frogs at SUNY Stony Brook, and then transcriptional regulation of skNAC during early cardiac development in mice at the Gladstone Institute, UCSF. - You can view Chong's publications here.
Ewa is a postdoctoral fellow in the Knowles lab. She is a cell and developmental biologist who obtained her MSc in Biology from the University of Warsaw, Poland. During her PhD studies in Haematology at the University of Cambridge, she used zebrafish models to functionally characterize novel regulators of blood formation. Following graduation in 2016, she was a postdoctoral fellow in the Teruel laboratory at the Department of Chemical and Systems Biology at Stanford University, where she studied the molecular mechanisms of adipogenesis. In the Knowles lab, she has focused on characterizing the role of novel regulators of adipose tissue formation using cell and mouse models. Ewa has also received a Dean’s Postdoctoral Fellowship and an American Heart Association Postdoctoral Fellowship. - You can view Ewa's publications here.
Johanne is a postdoctoral fellow in the Division of Cardiovascular Medicine and the Department of Biomedical Data Sciences. She obtained her MSc in Biotechnology (2010) and PhD in Metabolic Genetics at University of Copenhagen, Denmark (2017). Her research has mainly focused on studies evaluating the combined effect of polygenic risk scores with lifestyle risk factors on blood lipid levels and the development of cardiovascular diseases in Danish prospective population-based cohorts. In the Knowles lab, her research currently focuses on identifying novel genetic variants that are causally related to cardiometabolic disease by developing novel statistical methods and tools, as well as studying the underlying biological mechanisms behind selected associated variation via functional follow-up experiments. - You can view Johanne's publications here.
Jiehan is a postdoctoral fellow in the Division of Cardiovascular Medicine. She received her undergraduate degree in Pharmaceutical Chemistry at the University of Toronto, and her PhD in Pharmacology & Therapeutics at McGill University, Canada. Her research has mainly focused on studying the development and function of adipocytes in health and obesity-related diseases. In the Knowles lab, she is currently combining the CRISPR gene perturbation in adipocytes with single-cell RNA-sequencing to identify causal genes in obesity-related insulin resistance. - You can view Jiehan's publications here.
Laeya is a postdoctoral research fellow in the Division of Cardiovascular Medicine at Stanford. She received her MS degree in Molecular Medicine from the Norwegian University of Science and Technology in 2012, and her PhD from the University of Bergen in 2018. During her PhD, she worked in collaboration with the Broad Institute of MIT and Harvard to bridge the high-throughput data result of human genome sequencing with functional and translational studies related to type 2 diabetes. Her main focus was defining the functional and clinical relevance of variants in HNF1A by in vitro functional studies. In the Knowles lab, her main focus is identifying genes underlying insulin resistance using CRIPSR gene perturbation approaches. - You can view Laeya's publications here.
Peter is a postdoctoral research fellow in the Division of Cardiovascular Medicine at Stanford. He got his undergraduate training in medical sciences from the Karolinska Institutet, Sweden, where he later pursued his doctoral studies. In May 2018, he defended his doctoral thesis focusing on investigating autophagy pathways in atherosclerosis using genetic approaches. In the Knowles lab, Peter will investigate the impact of putative culprit genes indicated from GWA studies on cellular phenotypes relating to cardiometabolic diseases using CRISPR-Cas9 in relevant model systems. - You can view Peter's publications here.
Panjamaporn (Pam) Sangwung
Pam has a Ph.D. in Physiology and Biophysics from Case Western Reserve University. Her field of study is cardiovascular physiology with emphasis on energy metabolism, insulin resistance (IR), and endothelial cell/vascular biology. The overarching goal of her research is to reveal fundamental mechanisms underlying IR, type 2 diabetes (T2D), metabolic disorders, and cardiovascular diseases. Her current research is focused on elucidating underlying mechanisms of a novel insulin resistance gene, human N-acetyltransferase 2 (NAT2), in the development of IR and malfunctioning mitochondria. Understanding these pathways will provide valuable insight into the development of new treatments and cures for T2D and CVD. - You can view Pam's publications here.
Theresia M. Schnurr
Theresia is a Visiting Scholar in the Division of Cardiovascular Medicine. She obtained her MSc in Biochemistry/Molecular Biology at the University of Alaska Fairbanks, USA (2013), and her PhD in Basic Metabolic Research at the University of Copenhagen, Denmark (2018). Her overall research interest is to investigate how common genetic variation contributes to cardiometabolic disease and how lifestyle factors interact with a genetic predisposition to common disease traits. In the Hansen lab at the University of Copenhagen, she applied diverse statistical genetic analysis methods in European cohort studies to uncover genetic underpinnings of adiposity and metabolic disease-related traits, and to understand their complex relationship with lifestyle at the molecular level. In the Knowles lab, she focuses on combining a computational and experimental framework to identify novel genetic variants that are causally related to cardiometabolic disease, and to investigate their relationship to lifestyle factors. Her vision is to provide insights that will pave the way for personalized prevention and treatment, and for new drug targets. - You can view Theresia's publications here.
Melissa studied neuroscience at the University of Nevada, Reno. She then earned her master’s in biology from Florida Atlantic University in 2017, where her research with fruit flies combined genetics with metabolic and behavioral outputs to learn how sleep and metabolism are integrated. Melissa then began working at Stanford University in Dr. James Priest’s lab, where she moved to the mouse model to investigate causes of congenital heart disease by characterizing disease-associated gene variants and looking at how maternal glucose effects the developing heart. In the Knowles lab, Melissa is looking to understand the genetic basis of insulin resistance and the associated cardiometabolic traits by modeling insulin resistance in various cell lines using CRISPR-based gene modification techniques and screening for genes that modulate the cell’s uptake of glucose. - You can view Melissa's publications here.
Sophia Figueroa Katz
Sophia earned a Bachelor of Arts with Honors in Human Biology at Stanford University and is now a medical student at the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University. As a Sarnoff Cardiovascular Research Fellow, she is completing a research year under the mentorship of Dr. Joshua Knowles and Dr. Marco Perez. She aspires to become a pediatrician-scientist. Her research interests include prevention and early detection of cardiovascular disease as well as disparities in cardiovascular risk factors and outcomes.
Clinical Research Team
I am a physician scientist and conduct clinical research on the link between insulin resistance and cardiovascular disease and diabetes. I am particularly interested in techniques for direct measurement of insulin resistance and insulin secretion. My clinical interests include cardiovascular disease prevention and diagnosis and treatment of insulin resistance and prediabetes. Learn more about my work here.
Cindy Lamendola received her master in nursing science at UCSF and is an adult nurse practitioner and clinical research nurse coordinator at Stanford University School of Medicine. Her career’s focus has been on cardiovascular disease, as well as type 2 diabetes. Her clinical research focus is on insulin resistance, type 2 diabetes, and its relationship to cardiovascular disease. She had the privilege to do clinical research under Dr. Gerald Reaven, the “Father of Insulin Resistance,” for 20 years with a focus on effects of diets, weight loss, and medications on insulin resistance as well as other metabolic studies evaluating cardiovascular risk factors. She was fortunate to join Dr. Knowles’s team both clinically in the Stanford Center for Inherited Cardiovascular Disease (SCICD), with a focus on genetics and lipid disorders, such as familial hypercholesterolemia; and to continue working with him on clinical research in insulin resistance. Our current research focus has been on researching possible mechanisms of how statin drugs increase the risk of developing type 2 diabetes. She has been involved in cardiovascular nursing and primary and secondary prevention for most of her career, focusing on type 2 diabetes. She is a founding member and current board member of the Preventive Cardiovascular Nurses Association (PCNA), a member and fellow of the American Heart Association (AHA), and a member of the American Diabetes Association. She has been involved with many PCNA projects, including the pocket guide for cardiovascular risk reduction and projects focusing on insulin resistance, CVD, and Type 2 Diabetes. She has worked with the AHA and ADA on projects focusing on CVD and DM. She has published articles and book chapters on lipids, insulin resistance, type 2 diabetes, cardio metabolic risks, and their relationships to CVD.
Hannah is a cardiovascular genetic counselor at the Stanford Center for Inherited Cardiovascular Disease (SCICD). Her interest in Familial Hypercholesterolemia (FH) began as a volunteer in the Lipid Clinic at SCICD, where she had the opportunity to assist with Stanford's Find FH project and CASCADE FH registry. She was then accepted into Indiana University's Genetic Counseling graduate program, and she assisted with the development of the Lipid Clinic at Indiana University. Following graduation, she was offered a genetic counseling position at SCICD. She primarily focuses on counseling individuals with familial hypercholesterolemia in the adult FH Clinic and is currently developing a lipid clinic at Lucile Packard Children's Hospital.
Hannah is a cardiovascular genetic counselor at the Stanford Center for Inherited Cardiovascular Disease (SCICD). She specializes in FH and other lipid disorders. She also serves as grant coordinator of the Stanford/Baylor ClinGen grant and is a member of the ClinGen FH Variant Curation expert panel and the Complex Disease (polygenic risk score), Ancestry and Diversity, and Consent and Disclosure working groups. She graduated from the Johns Hopkins School of Public Health/National Human Genome Research Institute genetic counseling program. Her thesis work involved FH genetic testing utility and decision making, and she continues to be involved in FH implementation research.
Alumni of the Knowles Lab
Indu earned her PhD at the Medical University of Graz in Austria. As a postdoctoral fellow in the Knowles lab, she worked to functionally characterize NAT2 as an insulin sensitivity locus. Indi is currently working as a scientist at Bayer in San Francisco, CA. - You can view Indi's publications here.
While in the Knowles lab, Mohsen was a Postdoctoral research fellow in the Division of Cardiovascular Medicine. In 2014, he completed his Ph.D. in Medical Genetics at Tehran University. As part of his thesis at Yale University, he was involved in the genetic characterization of a form Metabolic Syndrome, which was caused by mutations in a muscle and testis abundant kinase, DYRK1B. Mohsen joined the Knowles lab in July 2015 in order to focus his training more on the genetic basis of insulin resistance. He has been examining the functional genomics of insulin resistance genes (NAT2 and FAM13A) in cell culture and animal models, as well as gene expression datasets from human cohorts. His research interests are the deep phenotyping approach through which multi-OMICs and longitudinal profiling unravel the underlying cause of diabetes and the development of insulin resistance in the presence or absence of obesity (lipodystrophy). - You can view Mohsen's publications here.
Hadi is a medical doctor who worked on large-scale genomic analyses of UK Biobank data while working in the Knowles lab. Specifically, he performed Mendelian rendomization analysis of diabetes and related traits to try to find causal genes. Hadi is now working on endocrinology on an NIH training grant. - You can viwe Hadi's publicaitons here.
Chelsea earned her bachelors degree at Stanford University. In the Knowles lab, she worked to help understand how statin medications can increase some people's risk for developing diabetes. Chelsea is currently a student at Duke University Medical School.
Vander is earning his bachelors degre at Stanford University, and he was working in the Knowles lab to try to understand how statin medications can increase some people's risk for diabetes.
Willie was a HumBio intern and research assistant in the Knowles lab in 2015. She is now a Research Assistant/Clinical Anatomy Scholar at the Division of Clinical Anatomy at Stanford University School of Medicine, Department of Surgery.
Caroline is earning her bachelors degree and was working in the Knowles lab to map insulin resistance genes.
Qi is a medical doctor who, while in the Knowles lab, worked on understanding the pathways underlying the effect of the NAT2 gene on insulin resistance. Qi now works as a physician in China.
Cynthia was a high school student who interned in the Knowles lab, helping our efforts in understanding the genetics invovled in insulin resistance.
Karina worked as a Laboratory Research Assistant in the Knowles and Quertermous labs from 2016 to 2017. She performed protein analyses to elucidate the role of genes FAM13A and NAT1 in insulin resistance. She also assisted with mouse colony management, mammalian cell culture, and quantitative protein and RNA assays.
Mohammad was a postdoctoral fellow in the Knowles lab who worked on the differentiation and characterization of iPSCs to adipocytes.
Jay was a pre-med scholar who did a gap research experience with the Knowles lab in 2019. He assisted with mouse colony management and genotyping, as well as other assays. He will be attending UC Davis for medical school in the fall of 2020.
Emily got her bachelors degree in Genetic Counseling from the University of Washington. In the Knowles lab, she worked on our Familial Hypercholesterolemia efforts, and she now works as a genetic councelor for the Familial Hypercholesterolemia Foundation.