2024 Conference Speakers

Akihiro Asai, MD Ph.D.

Assistant Professor of Pediatrics

Cincinnati Children’s Hospital and Medical Center
Center for Undiagnosed and Rare Liver Disease

Biography

https://www.cincinnatichildrens.org/research/divisions/g/gastroenterology/labs/asai

My research focus is to develop an effective treatment for inherited cholestasis syndromes by using innovative disease-modeling platforms. We use patient-specific induced Pluripotent Stem Cells (iPSCs) to recapitulate human liver diseases by a cutting-edge method to generate “a liver in the dish.” We have established technologies to induce hepatic differentiation into iPSCs and achieved the robust hepatocellular function of bile acid synthesis and transport. Notably, we have successfully modeled Progressive Familial Intrahepatic Cholestasis type 2 (BSEP deficiency), a representative genetic cholestatic disorder, within our experimental system. This research has unveiled novel pathophysiological mechanisms in this genetic condition, as detailed in our publication in Stem Cell Reports (2020). Furthermore, we have extended our disease modeling efforts to another prototypic genetic cholestatic disorder, PFIC type 4 (TJP2 deficiency), using similar yet refined methodologies. Our research findings, reported in Journal of Hepatology Reports (2022), reveal that TJP2 deficiency in induced hepatocytes (iHep) disrupts cellular polarity when cultured in a monolayer system. These discoveries provide a solid foundation for our current research proposal. In addition to my basic science research, I actively participate as a co-investigator in four clinical studies at our institution, focusing on treatments for HBV and HCV in children, as well as the management of PFIC and pediatric acute liver failure. Additionally, I serve as a site investigator for the LOGIC study, a longitudinal investigation into the genetic causes of intrahepatic cholestasis, as part of the NIH-funded Childhood Liver Disease Network.

After completing my clinical training to become a pediatric gastroenterologist, I joined Dr. Bezerra’s research laboratory at Cincinnati Children’s Hospital Medical Center (CCHMC) as a research fellow. I advanced bench scientific skills and knowledge under the instruction of Drs. James Wells, Takanori Takebe, Jorge Bezerra, Lee Denson, and Stacey Huppert. I have utilized their expertise to master the skills of stem cell culture to investigate cell-cell interaction during hepatocyte differentiation (Development, 2017). In 2016, after completing a one-year clinical fellowship in advanced pediatric transplant hepatology at CCHMC, I joined the faculty of pediatric gastroenterology, hepatology, and nutrition as a physician-scientist and started my independent research laboratory. With secured funding from pilot initiatives and internal research funding, I established an independent research program composed of experts at CCHMC. I have benefitted from the productive environment of CCHMC to interact and collaborate with colleagues in the clinical and basic science realm to address questions that are timely and utilize cutting-edge technology in stem cell biology (Gastroenterology, 2020).

Ongoing and recently completed projects that I would like to highlight:

The Peter and Tommy Colucci Research Award for PFIC (Philanthropic gift to The Cincinnati Children Research Foundation)
10/2021 – 9/2026 (active)
Create Center for Undiagnosed and Rare Liver disease in Cincinnati Children’s Hospital.
Role: co-PI

Pinnacle Research Award (American Association for the Study of Liver Diseases Foundation)
07/01/2018 – 06/30/2021(completed)
Disease modeling for BSEP deficiency using iPSC-derived human hepatocytes
Role: PI

Procter Scholar Award (The Cincinnati Children Research Foundation)
01/01/18-12/31/19 (completed)
Developed iPSC-derived hepatocyte to model defects in bile acid transport and synthesis.
Role: PI

Laura Bull, Ph.D, RDN

Professor-Department of Medicine
Biomedical Sciences Graduate Program

University of California San Francisco

PFIC Network Medical Advisory Board

Biography

https://profiles.ucsf.edu/laura.bull

Laura Bull, Ph.D., RDN is a Professor in the Liver Center of the Department of Medicine at UCSF (University of California San Francisco). She is also affiliated with the UCSF Institute for Human Genetics. Her research has focused upon understanding the genetic causes and manifestations of pediatric and pregnancy-related cholestasis.

Gitta Lubke, Ph.D.

Professor Emerita
University of Notre Dame
PFIC Network Science Advisor & Patient Registry Data Manager

IMPACT Project Team

Biography

Dr. Lubke works with the PFIC Network as a Science Advisor to help develop a quality research program, write grant proposals, and maintain a patient registry. She is also Co-Lead of the ongoing Projet IMPACT. The goal of IMPACT is to prepare the PFIC community for patient-centered outcomes research by July 2025. IMPACT is funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington Engagement Award (EASO-30455).

Dr. Paula Hertel, MD

Staff Physician-Texas Children’s Hospital
Assistant Professor of Pediatrics-Baylor College of Medicine

Biography

https://www.texaschildrens.org/find-a-provider/paula-marie-hertel-md

Dr. Hertel is a pediatric gastroenterologist and hepatologist at Texas Children’s Hospital and Associate Professor of Pediatrics at Baylor College of Medicine in Houston, Texas. Her career is dedicated to caring for children with liver disease and liver transplant, and to clinical research in pediatric liver disease. She has a particular passion for the care of children with cholestatic liver diseases, including PFIC, and to the study of these complex disorders. She is a member of the PFIC Writing Group for the National Institutes of Health (NIH) “ChiLDReN” liver research network, and helped to lead this group’s effort in a baseline analysis of children diagnosed with PFIC enrolled in the Network. At this time, she is working with the PFIC Writing Group on a follow-up study that will include an analysis of serum specimens to determine if lysophosphatidylcholine (LPC) can serve as an effective biomarker (blood test) for itch in children with PFIC. This work is supported by a PFIC Network Small Research Grant , for which she was a recipient.

Dr. Hertel is also the Texas Children’s Hospital site’s Principal Investigator for the NIH-sponsored NASH Clinical Research Network, which is focused on study of children and adults with MASLD and MASH (fatty liver disease), and is an ongoing contributor to work published by this group. She lives in Houston with her husband, two children, pet dog and parrot, and enjoys reading and travel in her free time. She is extremely grateful to the families and donors of the PFIC Network and thoroughly enjoys the opportunity to participate in the Network’s unique and important collaboration between physicians, researchers, and families.

Henkjan J. Verkade, MD,Ph.D.

Professor of Pediatrics

Beatrix Children’s Hospital
University Medical Center Groningen

PFIC Network Medical Advisory Board

Biography

Pediatric Gastroenterology & Hepatology, Dept. Pediatrics
Beatrix Children’s Hospital /
University Medical Center Groningen
P.O. Box 30.001
9700 RB Groningen
The Netherlands
e-mail: h.j.verkade@umcg.nl

Website: https://www.rug.nl/staff/h.j.verkade/

Henkjan J. Verkade is a pediatric gastro/hepatologist at the Beatrix Children’s Hospital of the University Medical Center Groningen, The Netherlands. He received his PhD degree in Medicine cum laude at the University of Groningen on the thesis entitled “Lipid absorption and metabolism”. Henkjan Verkade was a post-doctoral fellow at the University of Alberta, Edmonton, Canada. In 2005 Verkade was appointed Professor of Pediatrics, pediatric gastroenterology/hepatology, at the University Medical Center Groningen.

Henkjan Verkade combines clinical work in pediatric gastro/hepatology with clinical and fundamental research projects. Verkade’s current research projects involve intestinal lipid absorption and metabolism, the enterohepatic circulation, and pediatric liver disease (familial cholestatic syndromes, biliary atresia, liver transplantation). In 2017 he initiated with Bettina Hansen the global NAPPED registry (NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion) and in 2022 the prospective global TreatFIC database. The NAPPED registry has been helpful to further characterize the natural history of progressive familiar intrahepatic cholestasis syndromes and to identify prognostic parameters for the course of disease and for responsiveness to treatments.

Verkade has authored more than 300 peer-reviewed publications and more than 15 book chapters. Since 2019, he is associate editor of the Journal of Pediatric Gastroenterology and Nutrition.

Silvia Vilarinho, MD, Ph.D.

Associate Professor of Medicine and Pathology, Yale School of Medicine

Director, Internal Medicine Physician-Scientist Training Program

Associate Director, Yale MD-PhD Program

Biography

https://www.vilarinholab.org/
https://medicine.yale.edu/internal-medicine/digestivediseases/profile/silvia-vilarinho/

Silvia Vilarinho is a physician-scientist who uses genetics, genomics and human samples to investigate the molecular basis of various liver diseases of unknown etiology. Using these approaches, we have identified five novel genetic liver diseases. Our research goal is to continue to discover new genes important in liver function both in health and disease and to use cell biology and animal models to determine the specific mechanism(s) linking mutant gene to disease as a roadmap to further understand and treat rare and common liver diseases. This research approach provides new knowledge with direct impact in improving patient care and creates an outstanding scientific environment to train future physician-scientists and trainees with particular interest in human disease. Furthermore, Dr. Vilarinh is very committed to make ‘genomic medicine for liver disease’ a reality in clinical practice worldwide.

Ronald J. Sokol, MD, FAASLD

Chief Scientific Officer
Child Health at Colorado University Anschutz Medical Center
Children’s Hospital Colorado

Associate Dean for Child Health Research
Colorado University School of Medicine

PFIC Network Medical Advisory Board

Biography

https://som.cuanschutz.edu/Profiles/Faculty/Profile/5796

Ronald J. Sokol, MD, FAASLD, Distinguished Professor of Pediatrics, received his medical degree from the University of Chicago Pritzker School of Medicine and completed pediatric residency training and Chief Residency at the University of Colorado (CU) School of Medicine. He completed fellowship training in Pediatric Gastroenterology and Nutrition at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati. He has been a faculty member at University of Colorado School of Medicine since 1983. He was the founding Director of the Pediatric Liver Center at CU School of Medicine and his clinical interests are congenital, genetic and metabolic liver diseases of infants and children. His research includes basic, translational and clinical studies and trials centered on the pathogenesis, mechanisms, nutrition and treatment of childhood cholestatic liver diseases. He has been Chair of the Steering Committee, Executive Committee and Administrative Core of the multi-site NIDDK/NIH funded Childhood Liver Disease Research Network (ChiLDReN) since its inception in 2002. Currently, he is the Chief Scientific Officer, Child Health at CU Anschutz Medical Center and Children’s Hospital Colorado and Associate Dean for Child Health Research at CU SOM. He has been the Principal Investigator and Director of the Colorado Clinical and Translational Sciences Institute (funded by NCATs CTSA awards) since 2008 and the Assistant Vice Chancellor for Clinical and Translational Science at CU Denver. He was Section Head of Pediatric Gastroenterology, Hepatology, and Nutrition for 16 years until May 2022. He is past President of AASLD and NASPGHAN. He has authored over 300 peer-reviewed papers, 130 book chapters, review articles and books and is co-editor of the leading pediatric liver disease textbook, Liver Disease in Children.

Elizabeth Tamayo, RD, LD, CNSC

Liver & Small Bowel Transplant Dietitian
Certified Nutrition Support Clinician
Cincinnati Children’s Hospital and Medical Center

Biography

https://som.cuanschutz.edu/Profiles/Faculty/Profile/5796

Elizabeth Tamayo, RD, LD, CNSC, is a registered dietitian with the Nutrition Therapy Department at Cincinnati Children’s Hospital Medical Center (CCHMC). She graduated from The Ohio State University in 2018 with a Bachelor of Science in Medical Dietetics. Elizabeth has been a practicing dietitian at CCHMC for more than five years and has been the liver and small bowel transplant dietitian in both the inpatient and outpatient settings at CCHMC for over four years. She is a Certified Nutrition Support Clinician (CNSC).

Alexandra Perez

Canada
Mother of PFIC 2 child, Armando

Alex is the Community Focus Group Facilitator for Project IMPACT. She will be co-leading an IMPACT-related roundtable discussion.

Laura Susoi

Canada
Mother of PFIC 2 child, Louka

Laura will be co-leading a patient-researcher roundtable discussion.

Jim Squires, MD, MS

Professor, University of Pittsburgh School of Medicine

Pediatric Hepatologist & Gastroenterologist, Children’s Hospital of Pittsburgh

PFIC Network Medical Advisory Board

IMPACT Project Team

Biography

https://livercenter.pitt.edu/people/james-squires-md-ms/

Dr. Squires earned his medical degree from the University of Texas and went on to complete his training in general pediatrics at the Cincinnati Children’s Hospital Medical Center (CCHMC). Following residency, he completed fellowships in both pediatric gastroenterology and pediatric advanced/transplant hepatology at CCHMC and completed a Masters in clinical and translational at the University of Cincinnati. Following completion of his training, Dr. Squires joined the faculty at the Children’s Hospital of Pittsburgh in 2015 where he is currently an Associate Professor in Pediatrics, the Director of the Pediatric Advanced/Transplant Hepatology Fellowship, and Associate Medical Director of Hepatology.

Dr. Squires remains active in both clinical and research pursuits. He is a co-investigator in the Children Liver Disease Research Network, an NIH funded consortium working to improve the lives of children with rare cholestatic liver diseases. He is also a member of the Society of Pediatric Liver Transplant, a multifaceted organization focused on improving outcomes for children receiving liver transplantation. He is the Clinical Lead for the Starzl Network for Excellence in Liver Transplantation, a novel learning health network of leading pediatric transplant institutions committed to continuous improvement until every child can achieve a long and healthy life and has received funding from the Patient-Centered Outcomes Research Institute to advance this work. Other current interests include metabolic liver disease, acute liver failure, and liver transplant.

Richard Thompson, MD, PhD

Professor, Kings College London

Kings College Hospital

PFIC Network Medical Advisory Board

Biography

https://www.kcl.ac.uk/people/richard-thompson

Dr. Thompson specialises in paediatric liver disease. In particular he is interested in genetic disease, both in children and adults. His group have identified several disease genes, and have established important genotype/phenotype correlations. He is also the Clinical Lead for the Liver Molecular Genetics service. Dr. Thompson is also a Professor of Molecular Hepatology at King’s College London.

William F. Balistreri, MD, FAASLD

Dorothy M. M. Kersten Professor of Pediatrics

Director Emeritus, Pediatric Liver Care Center

Cincinnati Children’s Hospital and Medical Center
Center for Undiagnosed and Rare Liver Disease -University of Cincinnati Medical School

Biography

https://www.cincinnatichildrens.org/bio/b/william-balistreri

I have worked at Cincinnati Children’s Hospital Medical Center for more than forty years to better understand liver diseases, such as viral hepatitis, chronic cholestasis, metabolic liver disease and the outcomes of liver transplant in children. Initially driven by curiosity, I work to find a cure for these types of diseases, so children can live better, more fulfilling lives.
I served as the director of the Division of Pediatric Gastroenterology, Hepatology and Nutrition for 25 years. My research publications (over 580 to date) have helped broaden our understanding of many aspects of liver disease in children.

In 2000, I became the first pediatrician to serve as president of the American Association for the Study of Liver Diseases. I have also received numerous awards and honors, including:
-American Academy of Pediatrics, Murray Davidson Award
-American Association for the Study of Liver Diseases, Distinguished Service Award
-American Gastroenterological Association, Distinguished Educator Award
-Canadian Liver Foundation and the Canadian Association for the Study of Liver, Andrew Sass-Kortsak Memorial Award
-Cincinnati Pediatric Society, Founder’s Award
-Crohn’s and Colitis Foundation of America, Distinguished Leadership Award
-Ohio Chapter of the American Academy of Pediatrics, Outstanding Pediatrician Award
-North American Society for Pediatric Gastroenterology, Hepatology and Nutrition Shwachman Award
-University of Buffalo, Distinguished Alumnus Award
-University of Cincinnati, College of Medicine Daniel Drake Medal

I have also been listed among the Best Doctors in America numerous times in a variety of publications. I thank all the volunteers who continue to help us better understand liver disease.

Rodrigo M. Florentino, Ph.D.

Postdoctoral Associate

University of Pittsburgh
Pittsburgh Liver Research Center

Biography

Research Interests:
Recently some point mutations have been associated with specific liver diseases. My interest is to understand the relationship between these mutations and the incidence of liver disease to find out the mechanism behind it. With the advances in induced pluripotent stem cell (iPS cell) technology and the ability to differentiate these cells into hepatic cells, such as hepatocytes, cholangiocytes and stellate cells, a new and a better model is available to study human liver diseases.

View Dr. Florentino’s publications on PubMed

Markus Grompe, MD

Professor-Departments of Pediatrics and Molecular & Medical Genetics

Oregon Health Sciences University
Oregon Stem Cell Center

Biography

https://www.ohsu.edu/people/markus-grompe-md

Dr. Markus Grompe is the Ray Hickey Professor and Director of the Papé Family Pediatric Research Institute at Oregon Health & Science University in Portland, Oregon, USA. His research has focused on the use of in vivo selection to enhance gene and cell transplantation therapy for inherited diseases. Hepatic stem cells and their use in therapeutic liver repopulation are a main focus. To study the properties of human cells in a physiologic setting the laboratory has developed murine models supporting the expansion of human stem cells in transgenic mice. These humanized mice are an ideal platform for the development for novel therapeutics, including small molecules, gene therapy vectors and cells. He has published over 200 peer-reviewed articles and holds numerous patents.

Hisamitsu Hayashi Ph.D.

Associate Professor

Graduate School of Pharmaceutical Sciences
University of Tokyo

Biography

Dr. Hisamitsu Hayashi is a researcher and faculty member at the Laboratory of Molecular Pharmacokinetics, part of the Graduate School of Pharmaceutical Sciences at the University of Tokyo. He completed his Ph.D. in Pharmaceutical Sciences in 2010 at the University of Tokyo. His academic career has been anchored at The University of Tokyo, where he progressed from an Assistant Professor (2007–2021) to his current position as Associate Professor since 2021. In 2012, Dr. Hayashi served as a Visiting Assistant Professor at the Department of Psychiatry, University of California, San Francisco. Dr. Hayashi has been recognized for his research contributions, receiving the Research Encouragement Award from the Japan Research Foundation for Clinical Pharmacology in 2023 and The Young Scientists’ Award from the Japanese Ministry of Education, Culture, Sports,Science, and Technology in 2019. His research focuses on the development of novel therapies and diagnostic methods for pediatric liver diseases.

Stacey S. Huppert, Ph.D.

Associate Professor

Cincinnati Children’s Hospital and Medical Center
University of Cincinnati College of Medicine

Biography

https://www.cincinnatichildrens.org/research/divisions/g/gastroenterology/labs/huppert

Dr. Stacey S. Huppert, PhD, is an Associate Professor in the Division of Gastroenterology, Hepatology & Nutrition at Cincinnati Children’s Hospital (CCHMC) and Department of Pediatrics at the University of Cincinnati College of Medicine. Her commitment to Notch signaling spans over twenty years since beginning her graduate training. In the laboratory of Dr. Marc A. T. Muskavitch at Indiana University, she demonstrated that Notch signaling exerts feedback regulation on ligand and receptor expression, and that the resultant asymmetries underlie proper cell fate determination. As a postdoctoral fellow in Dr. Raphael Kopan’s Laboratory and then as an Instructor in the Department of Molecular Biology and Pharmacology at Washington University School of Medicine, she continued to study Notch signaling mechanisms. Generating a mouse with a targeted mutation at the gamma-secretase cleavage site within Notch1, she demonstrated that intramembranous processing of Notch1 and release of the Notch intracellular domain (NICD) is indispensable for proper embryonic development.

Currently Dr. Huppert’s research program investigates hepatic cell plasticity and switching of liver cell identities to build missing liver bile ducts – formation of the three-dimensional hepatic architecture during development, homeostasis and regeneration. Her group uses multiple models of Alagille syndrome (ALGS) – mouse experimental and human induced pluripotent stem cells (iPSCs). They are focused on enhancing the potential of hepatocytes to restore bile ducts of patients with Alagille syndrome and other hepatobiliary diseases on two fronts: 1. Identify possible treatments for children whose liver disease is related to a lack of bile ducts by testing modifiers of Notch signaling, and 2. Correcting the bile duct supporting mesenchymal cell niche.

Saul J. Karpen, MD PhD FAASLD

Pediatric Hepatologist, Professor of Pediatrics, Raymond F. Schinazi Distinguished Biomedical Chair

Emory University School Medicine
Children’s Healthcare of Atlanta

Note that as of March 1, 2024, Dr. Karpen will be the Chief Scientific Officer for the Stravitz-Sanyal Institute for Liver Disease and Metabolic Health at VCU in Richmond, VA and his email address will be saul.karpen@vcuhealth.org.

Biography

The focus of my research program is to provide a deeper understanding of the molecular mechanisms of cholestasis, with the objective of discovering novel molecular targets to treat cholestatic liver disease. I have employed a strong research interest in nuclear receptors and bile acid pathways to address root causes and targets for cholestatic diseases. My current laboratory and clinical research focus is on BA, the principal liver disease of infancy. Research arcs are directed towards addressing several crucial unknowns and unmet needs for this disease, which has been plagued by little progress in understanding its etiologies or developing effective therapeutics. Two BA research arcs are intended to provide discoveries along these lines: 1.) genetic etiologies, of which we have discovered, and validated in a mouse model, the first plausible etiologic gene for some BA patients, PKD1L1; and 2.) as lead of an international randomized placebo-controlled Phase 3 study of an ileal bile acid uptake inhibitor (NCT04336722) in BA.

On a national and international basis, I am engaged in the leadership of the AASLD (Senior Councilor, President in 2026), co-chair of the Liver Forum’s International Pediatric Cholestatic Disease Working Group and two NIDDK-supported consortia for liver disease: ChiLDReN and NASH CRN. At Emory/CHOA I am the inaugural Director for the Center for Gastroenterology, Endocrinology and Nutrition Innovation (GENI) which is focused upon the individual and societal impacts of obesity and metabolic health of children. Taken together, my overall goals are to develop integrative programs to improve children’s lives through research, discovery of rational therapeutic targets, and the development of safe and effective pharmaceuticals—all focused upon the unique and pressing needs of infants and children with liver diseases.

Note that as of March 1, 2024, Dr. Karpen will be the Chief Scientific Officer for the Stravitz-Sanyal Institute for Liver Disease and Metabolic Health at VCU in Richmond, VA. As of March 1, 2024 my email address will be saul.karpen@vcuhealth.org

Henkjan J. Verkade, MD,Ph.D.

Professor of Pediatrics

Beatrix Children’s Hospital
University Medical Center Groningen

PFIC Network Medical Advisory Board

Biography

Pediatric Gastroenterology & Hepatology, Dept. Pediatrics
Beatrix Children’s Hospital /
University Medical Center Groningen
P.O. Box 30.001
9700 RB Groningen
The Netherlands
e-mail: h.j.verkade@umcg.nl

Website: https://www.rug.nl/staff/h.j.verkade/

Henkjan J. Verkade is a pediatric gastro/hepatologist at the Beatrix Children’s Hospital of the University Medical Center Groningen, The Netherlands. He received his PhD degree in Medicine cum laude at the University of Groningen on the thesis entitled “Lipid absorption and metabolism”. Henkjan Verkade was a post-doctoral fellow at the University of Alberta, Edmonton, Canada. In 2005 Verkade was appointed Professor of Pediatrics, pediatric gastroenterology/hepatology, at the University Medical Center Groningen.

Henkjan Verkade combines clinical work in pediatric gastro/hepatology with clinical and fundamental research projects. Verkade’s current research projects involve intestinal lipid absorption and metabolism, the enterohepatic circulation, and pediatric liver disease (familial cholestatic syndromes, biliary atresia, liver transplantation). In 2017 he initiated with Bettina Hansen the global NAPPED registry (NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion) and in 2022 the prospective global TreatFIC database. The NAPPED registry has been helpful to further characterize the natural history of progressive familiar intrahepatic cholestasis syndromes and to identify prognostic parameters for the course of disease and for responsiveness to treatments.

Verkade has authored more than 300 peer-reviewed publications and more than 15 book chapters. Since 2019, he is associate editor of the Journal of Pediatric Gastroenterology and Nutrition.

Silvia Vilarinho, MD, Ph.D.

Associate Professor of Medicine and Pathology, Yale School of Medicine

Director, Internal Medicine Physician-Scientist Training Program

Associate Director, Yale MD-PhD Program

Biography

https://www.vilarinholab.org/
https://medicine.yale.edu/internal-medicine/digestivediseases/profile/silvia-vilarinho/

Silvia Vilarinho is a physician-scientist who uses genetics, genomics and human samples to investigate the molecular basis of various liver diseases of unknown etiology. Using these approaches, we have identified five novel genetic liver diseases. Our research goal is to continue to discover new genes important in liver function both in health and disease and to use cell biology and animal models to determine the specific mechanism(s) linking mutant gene to disease as a roadmap to further understand and treat rare and common liver diseases. This research approach provides new knowledge with direct impact in improving patient care and creates an outstanding scientific environment to train future physician-scientists and trainees with particular interest in human disease. Furthermore, Dr. Vilarinh is very committed to make ‘genomic medicine for liver disease’ a reality in clinical practice worldwide.

Holger Willenbring, MD, Ph.D.

Professor of Surgery, University of California San Francisco
Associate Director, UCSF Liver Center Member, Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research

Biography

https://willenbringlab.ucsf.edu/

Research Overview
Our research is aimed at developing new therapies for patients with severe liver diseases. To restore liver function in patients with liver failure, we are working on generating hepatocytes from human pluripotent stem cells or by reprogramming of readily accessible human cell types. To be therapeutically effective, these cells need to replicate both function and the ability to proliferate of primary human hepatocytes. To establish and improve protocols for the production of such cells, we have been working on obtaining a detailed molecular understanding of hepatocyte differentiation and regeneration. For this, we are using mouse models for liver cell lineage tracing developed in our laboratory. In addition, we are using rigorous animal models of human liver failure to test the therapeutic efficacy of our surrogate hepatocytes. While developing novel liver cell therapies is our main focus, we are also using hepatocytes derived from human pluripotent stem cells or by reprogramming to generate in vitro and in vivo liver disease models. Another goal of our laboratory is to determine the origin and follow the fate of liver cancer-initiating cells with the goal to identify the molecular mechanisms that drive liver cancer formation and progression. For this, we are using new mouse models generated in our laboratory. By obtaining an improved understanding of hepatocarcinogenesis, we hope to contribute to the development of strategies for early detection and effective eradication of liver cancer.

Chunyue Yin, Ph.D

Assistant Professor, UC Department of Pediatrics

Director,Center for Undiagnosed and Rare Liver Disease

Co- Director, Center for Undiagnosed and Rare Liver Disease

Associate Professor, Gastroenterology, Hepatology & Nutrition

Cincinnati Children’s Hospital and Medical Center
University of Cincinnati Medical School

Biography

https://www.cincinnatichildrens.org/research/divisions/g/gastroenterology/labs/yin

Dr. Chunyue Yin obtained her PhD in Developmental Biology at Vanderbilt University and completed her postdoctoral training at the University of California, San Francisco. She started her independent research program at Cincinnati Children’s in 2012, focusing on the etiology of pediatric intrahepatic cholestasis using animal models. She has ongoing collaboration with a team of clinicians, geneticists, and pathologists to investigate how mutations in the known genes cause cholestasis and to identify novel disease-causing genes.

2024 Conference Speakers

Family Session Presenters

Akihiro Asai, MD Ph.D.

Laura Bull, Ph.D, RDN

Gitta Lubke, Ph.D.

Dr. Paula Hertel, MD

Henkjan J. Verkade, MD,Ph.D.

Silvia Vilarinho, MD, Ph.D.

Ronald J. Sokol, MD, FAASLD

Elizabeth Tamayo, RD, LD, CNSC

Roundtable Facilitators

Alexandra Perez

Laura Susoi

Jim Squires, MD, MS

Richard Thompson, MD, PhD

Research Workshop Presenters

William F. Balistreri, MD, FAASLD

Rodrigo M. Florentino, Ph.D.

Markus Grompe, MD

Hisamitsu Hayashi Ph.D.

Stacey S. Huppert, Ph.D.

Saul J. Karpen, MD PhD FAASLD

Henkjan J. Verkade, MD,Ph.D.

Silvia Vilarinho, MD, Ph.D.

Holger Willenbring, MD, Ph.D.

Chunyue Yin, Ph.D