Members

Marianne Kingsley is a parent of a teen with PFIC type 1. Her difficult experiences since diagnosis at 3 months old have led her to this project to help other patients and families have better information and support. Professionally, she has been with a Canadian municipal government for over 20 years, specializing in environmental policy research, analysis, development and implementation supported by an M.Sc. in Ecology.

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 research 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.

Erin Blanton is from Valdosta, GA, where she lives with her husband Jay and their two cats. Erin has lived with symptoms of ABCB4 Disease her entire adult life, but was only diagnosed in 2025. She hopes her lived experience as a patient can help other adult patients get a quicker diagnosis.

Olivia is a wife, mom, and Ohio sales professional working in the restaurant equipment industry.  After experiencing Intrahepatic Cholestasis of Pregnancy (ICP), she was later diagnosed with Progressive Familial Intrahepatic Cholestasis (PFIC) as an adult—a journey that has inspired her to raise awareness and connect with others navigating rare liver diseases.

Alexandra Perez is a parent advocate dedicated to advancing awareness, research, and support for families affected by PFIC. She has served on the PFIC Network Advisory Board, contributed to PFIC Networks Project IMPACT, and is currently helping establish PFIC Canada alongside other Canadian advocates. Alexandra and her husband, Walter, are parents of six children, including their son Armando (9) and daughter Mirabel (1), both of whom live with BSEP deficiency (PFIC Type 2), inspiring her commitment to improving the lives of those affected by PFIC.

Emily Ventura co-founded PFIC Network with 2 other PFIC moms in 2018 and has served as Executive Director since 2021. She combines over a decade of critical care nursing experience with 14 years as a PFIC caregiver and advocate. Under her leadership, PFIC Network was funded in the second grant cycle of the Chan Zuckerberg Initiative’s Rare As One program. PFIC Network’s mission is to improve the lives of patients and families affected by PFIC worldwide.

Elaine Shutt lives in Texas with her husband Jason and their five children. She is a homemaker and teacher. Elaine’s youngest son was diagnosed with PFIC2 (BSEP deficiency) when he was about a year old. She is involved with PFIC research because she hopes that someday there will be fewer unknowns about this disease.

Dr. Aki Asai is an Associate Professor of Pediatrics and a physician-scientist specializing in pediatric hepatology at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine. His research focuses on developing innovative disease-modeling platforms and genetic therapies, including base editors and mRNA therapeutics, to address rare genetic liver diseases. As a co-director of the Center for Undiagnosed and Rare Liver disease (CURL), he also spearheads initiatives to optimize diagnostic precision and monitor long-term outcomes in genetic liver care.

Ryan Fischer, MD, is a board-certified Pediatric Gastroenterologist and Transplant Hepatologist and Section Chief of Hepatology and Transplant Medicine at Children’s Mercy Kansas City. He has a strong interest in clinical and translational research related to liver disease and transplantation, and novel therapeutics to treat disordered inflammation in the liver. The Children’s Mercy team specializes in liver disease related to congenital heart disease and Fontan physiology, steatotic liver disease, complications of advanced fibrosis and portal hypertension, and inherited causes of cholestasis.

Dr. Hertel is a pediatric hepatologist at Texas Children’s Hospital / Baylor College of Medicine in Houston, TX.  She has a special passion for diagnosis and treatment of rare liver diseases, and engages in collaborative clinical research on cholestatic liver diseases and MASLD (fatty liver disease).  She is truly grateful to be engaged in the PFIC Network and finds it especially exciting to watch the engagement of families and providers grow from year to year at annual Network meetings.

Prof Henkjan Verkade is Professor of Pediatrics (Gastroenterology and Hepatology) at the University of Groningen and University Medical Centrer Groningen, the Netherlands, holding both academic and clinical roles. His work spans paediatric gastroenterology, hepatology, and nutrition, with a focus on liver disease in children. He is a member of the Scientific Advisory Board of the Dutch Najjar Foundation and Medical Advisory Board of PFIC Network . He is the principal investigator of the global PFIC registries NAPPED and TreatFIC.

Dr. Heng Wang is a board-certified pediatrician and physician-scientist who has served as Medical Director of DDC Clinic for Special Needs Children in Middlefield, Ohio since 2002. He is internationally recognized for his expertise in rare genetic disorders and has authored more than 80 peer-reviewed publications. His clinical and research interests focus on advancing the diagnosis and care of children with rare diseases, including inherited cholestatic liver disorders.

Beth Knight, RN, CSN, is a Certified School Nurse with more than 20 years of nursing experience and the mother of a daughter living with PFIC1 who received a life-saving liver transplant in 2024. Drawing on both her professional expertise and lived experience as a caregiver, Beth is dedicated to advancing PFIC research, supporting families throughout the transplant journey, and ensuring the patient and caregiver perspective remains at the center of research and clinical care.

Emily is the Clinical Program Manager of the Liver Care Center at Cincinnati Children’s hospital.  She has provided nursing care for pediatric liver patients and families for over 10 years.  She has led numerous programmatic and hospital wide projects to improve the outcomes for patients and families.