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Cystic Fibrosis as a Paradigm for Precision Medicine: Professor Carolos Milla & Dr. Zachary Sellers, Stanford University

June 1, 2020 - 12:00pm to 1:00pm

Research Seminar


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Abstract: Well into the 21st century, Cystic Fibrosis remains the most common life-shortening inherited disease and in the United States, 1,000 children are born with the disease every year. A consequence of mutations in the Cystic Fibrosis Trans-membrane Conductance Regulator (CFTR) gene, remarkable clinical and scientific efforts have led to fast-paced improvements in the treatment of Cystic Fibrosis. Drs. Milla and Sellers will review the progress towards a cure for cystic fibrosis and how this is informed by in-depth genetic knowledge at the individual level.

Dr. Milla’s current research efforts are focused on precisely defining at the individual patient level the clinical phenotype and its pathophysiologic mechanisms at the cellular level by making use of technologies developed to work with the patient’s own respiratory cells. This not only permits a complete understanding of the individual patient’s condition, but also permits the evaluation in vitro of drugs that can have an impact in the cellular machinery to restore normal function. Dr. Sellers will review novel physiologic biomarkers his laboratory is developing to further dissect the defects introduced by CFTR gene mutations and how this can be applied at the individual level to establish an individualized precision medicine service. Dr. Milla will close by reviewing the implications this work has for other genetic disorders and precision medicine efforts in general.


Carlos Milla, MD

Professor of Pediatrics (Pulmonary Medicine) @Lucile Packard Children’s Hospital Stanford
Dr. Carlos Milla is a Professor of Pediatrics (Pulmonary Medicine) at the Lucile Salter Packard Children's Hospital. His research interests have centered on the inflammatory responses that lead to airway disease in Cystic Fibrosis (CF) and the metabolic factors that contribute to CF lung disease progression. Current efforts are focused on the understanding of the early events that drive the development of lung disease through the study of infants with CF identified by newborn screening. This includes the development of new diagnostic tools that permit the early detection of lung disease manifestations.
Zachary Sellers, MD, PhD
Instructor in Pediatrics Gastroenterology @Stanford School of Medicine
I am a pediatric physician-scientist striving to advance cystic fibrosis clinical care and translational research. Clinically, I am focused on gastrointestinal manifestations of cystic fibrosis, developing diagnostic and therapeutic modalities to improve the gastrointestinal and liver health of those with cystic fibrosis. I also specialize in the clinical management of pediatric pancreatitis and am involved with the international INSPPIRE consortium to study pediatric pancreatitis. In the laboratory, my projects are centered around understanding mechanisms of ion transport in cystic fibrosis tissues and determining how loss of CFTR ion transport leads to pathologic changes in human physiology. Our laboratory has specialized expertise in the measurement of bicarbonate transport. We are also part of a Multi-PI collaboration pursuing CFTR gene editing and stem cell engraftment for the treatment of cystic fibrosis.
Event Sponsor: 
Stanford Maternal and Child Health Research Institute
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