Scientific Conference Presenters - PFIC

Thank you to all our great presenters from the 2022 PFIC Scientific Conference! These presenters made our conference a huge success.

Dr. Akihiro Asai, MD, PhD

Cincinnati Children’s Hospital Medical Center

Contact Information: https://www.cincinnatichildrens.org/bio/a/akihiro-asai

Biography

https://www.cincinnatichildrens.org/bio/a/akihiro-asai

Dr. Rodrigo Florentino, PhD

University of Pittsburgh
Pittsburgh Liver Research Center

Contact Information: https://livercenter.pitt.edu/people/rodrigo-m-florentino-phd/

Biography

Liver-Related Work
Recently some point mutations have been associated with specific liver diseases. My interested 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.

Dr. Jagadeesh Menon V R , M.D

Consultant Pediatric gastroenterologist, hepatologist, and liver transplant physician at Dr. Rela Institute and medical centre, Chennai, India

Contact Information: relainstitute.com/doctor-profile/dr-jagadeesh-menon-vr

Biography

Undergraduate training (M.B.B.S) at Government Medical College, Calicut, India. M.D at the department of Pediatrics and D.M in pediatric gastroenterology and hepatology at PGIMER, Chandigarh, India. Training in pediatric liver transplantation at Dr Rela Institute and medical centre, Chennai under the guidance of Prof Mohamed Rela and Dr Naresh Shanmugam. Only pediatric hepatologist who is a traineeship member of the international liver transplantation society (ILTS). Works as consultant pediatric gastroenterologist, hepatologist and liver transplant physician at Dr Rela Institute & Medical Centre, Chennai, India. Dr Rela Institute & medical centre is a high volume pediatric liver transplant centre, performing 60-65 pediatric liver transplants annually under the leadership of pioneering liver surgeon, Prof Mohamed Rela and has recently crossed the figure of performing 500 pediatric liver transplants.

Dr. Kathleen Loomes, MD

Site principal investigator at CHOP for the NIH-funded Childhood Liver Disease Research Network (ChiLDReN) and the Pediatric Acute Liver Failure Immune Response Network (PALF-IRN).

Contact Information: https://www.research.chop.edu/people/kathleen-loomes

Biography

Dr. Loomes’ research is focused on clinical and translational studies in pediatric liver disease. Early in her career, Dr. Loomes used genetic mouse models to investigate the role of the Notch ligand Jag1 in development of multiple organ systems affected in the autosomal dominant disorder Alagille syndrome (ALGS). Building on that work, she collaborated with other investigators at CHOP to identify genetic modifiers of liver disease severity in ALGS. She has also worked to identify candidate susceptibility genes for biliary atresia (BA).

Dr. Loomes is the site principal investigator at CHOP for the NIH-funded Childhood Liver Disease Research Network (ChiLDReN) and the Pediatric Acute Liver Failure Immune Response Network (PALF-IRN). In collaboration with the ChiLDReN consortium, Dr. Loomes has participated in multiple observational and interventional studies in rare pediatric liver diseases. The ChiLDReN studies have characterized the natural history of these rare disorders in longitudinal cohorts of children and completed clinical trials in BA and ALGS. Numerous ancillary studies have been conducted using biospecimens collected through ChiLDReN studies, including investigations into novel genetic etiologies of disease.

She has also collaborated to characterize immune cell populations in the liver of patients with indeterminate pediatric acute liver failure. The newly-created PALF-IRN will conduct a clinical trial in this critically ill patient population.

Dr. Ben Schneider, MD

George Peterkin Endowed Chair and Head of the Section of Pediatric Gastroenterology, Hepatology and Nutrition at the Baylor College of Medicine and Texas Children’s Hospital

Contact Information: https://www.bcm.edu/people-search/benjamin-shneider-30689

Biography

Benjamin L. Shneider, MD is the George Peterkin Endowed Chair and Head of the Section of Pediatric Gastroenterology, Hepatology and Nutrition at the Baylor College of Medicine and Texas Children’s Hospital. Dr. Shneider is a Pediatric Hepatologist actively involved in clinical and translational investigations of pediatric liver diseases. His interest in Pediatric Hepatology was sparked during medical school at The University of Chicago. He completed a residency in Pediatrics at The Children’s Hospital, Boston with subsequent fellowship training in Pediatric Gastroenterology/Hepatology at the Yale University. He served as the Director of Pediatric Hepatology at the Mount Sinai School of Medicine for nine years and at the University of Pittsburgh School of Medicine for seven years, until his recruitment to Texas Children’s Hospital and the Baylor College of Medicine in 2015. Dr. Shneider is a member of the American Society of Clinical Investigators and the American Pediatric Society.

Dr. Henkjan Verkade, MD, PhD

Pediatric Gastroenterology & Hepatology, Dept. Pediatrics Beatrix Children’s Hospital University Medical Center Groningen

Contact Information: https://www.rug.nl/staff/h.j.verkade/?lang=en

Biography

Henkjan J. Verkade is a pediatric gastro/hepatologist at the Beatrix Children’s Hospital of the University Medical Center Groningen. He studied medicine at the Erasmus University Rotterdam. 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. His post-doc studies concentrated on the hepatic production of Very Low Density Lipoproteins.
Henkjan Verkade combines clinical work in pediatric gastro/hepatology with clinical and fundamental research projects. He is a member of national and international professional associations and organizations, including American Association Study of Liver Diseases, European Society Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN), Dutch Society for Transplantation, and the European Cystic Fibrosis Society. For ESPGHAN, he served as Chair of the Hepatology Committee and member of the Council (2016-2020). His current research projects involve intestinal lipid absorption and metabolism, the enterohepatic circulation, and pediatric liver disease (biliary atresa, liver transplantation, familial cholestatic syndromes). In 2017 he initiated, together with Dr. Bettina Hansen and Dr. Daan van Wessel, the NAPPED initiative: a global registry of patients with Progressive Familial Intrahepatic Cholestasis type 1 (FIC-deficiency) or type 2 (BSEP-deficiency).
He has authored more than 250 peer-reviewed publications in the fields of pediatric hepatology, nutrition, and gastro-intestinal physiology, and more than 15 book chapters. Since 2019, he is associate editor of the Journal of Pediatric Gastroenterology and Nutrition. He has supervised 45 PhD students up till successful completion of their thesis.

Dr. Chunyue Yin, PhD

Associate Professor of Pediatrics Division of Gastroenterology, Hepatology and Nutrition Cincinnati Children’s Hospital Medical Center

Contact Information: https://www.cincinnatichildrens.org/bio/y/chunyue-yin

Biography

The long-term goal in the Yin Lab, led by Chunyue Yin, PhD, is to understand the molecular and cellular mechanisms underlying liver development, regeneration and disease pathogenesis. Our projects use a combination of genetic, molecular, embryology, biochemical, and cell biological approaches in the zebrafish model to address questions related to liver biology.
Currently, there are two main focuses in the lab. The first focus is to delineate the regulation of hepatic stellate cells, the key cell type responsible for liver fibrosis, during liver development and injury. The second focus is to understand the cell biology of hepatic biliary cells in the zebrafish models of biliary diseases.

Dr. Gitta Lubke, PhD

Professor Emerita
Notre Dame University
PFIC Network Research Strategist

Contact Information: https://psychology.nd.edu/faculty/gitta-lubke/

Biography

Gitta Lubke’s research interests are in general latent variable modeling and data mining. In addition to the challenges of analysing complex human behavior such as psychiatric disorders, she is interested in the analysis of genetic data. Gitta works with the PFIC Network as a Research Strategist to help develop a quality research program, write grant proposals, and develop a patient registry.

Dr. Paula Hertel, M.D.

Assistant Professor of Pediatrics, Baylor College of Medicine

Contact Information: https://www.bcm.edu/people-search/paula-hertel-23070

Biography

Dr. Hertel’s clinical and research expertise focus on pediatric liver disease. In her clinic, she cares for infants and children of all ages with liver transplants and with liver diseases including biliary atresia, idiopathic neonatal hepatitis, progressive familial intrahepatic cholestasis (PFIC), Alagille syndrome, fatty liver disease, and a multitude of other rare, and often poorly understood, disorders. Dr. Hertel oversees several long-term research studies conducted at Texas Children’s that are part of an NIH-funded multicenter human subjects research effort entitled “ChiLDREN”, which was designed to combine the research efforts of major pediatric centers in the U.S. and in Canada to better understand biliary atresia and other pediatric liver diseases. Within the network, she is currently participating in analysis and publication of findings relating to children with neonatal liver disease of unknown cause and PFIC.

Dr. Piotr Czubkowski

The Children’s Memorial Health Institute, Department Gastroenterology, Hepatology and Immunology

Contact Information: https://nauka.czd.pl/en/piotr-czubkowski-2/

Biography

-Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics. The Children’s Memorial Health Institute
-Fellowship in Liver Center Laboratory, San Francisco General Hospital under supervision of Professor Laura Bull; University of California San Francisco
-European Union project PERFECT, fellowship, King’s College Hospital, Londyn. Paediatric Liver Unit, Mountbatten Ward
-PhD dissertation with distinction: “The analysis of risk factors in children with biliary atresia”
-Senior Clinical Fellow in Paediatric Hepatology, sharing service with Consultants in Birmingham Children’s Hospital, Liver Unit (including intestinal transplantation), UK
-Member of Hepatology Committee ESPGHAN
-Organizer of Hepatology Summer School ESPGHAN in Serock

Community Presenters

Emily Ventura

PFIC Network Executive Director
Mother of PFIC 2 child, Cedar

Emily is presenting on behalf of a family in our community. The story Emily tells will be the story of an anonymous mother who is brave for taking the first step in sharing a rare disease story.

Contact Information: emily@pfic.org

Zunera Dilshad

Zunera Dilishad, Pakistan
Mother of PFIC 2 child, Hayyan

Francesca Lombardozzi

Francesca Lombardozzi, PFIC Italia Network
Mother of PFIC 1 child, Eva Luna

Bernadetta Skora

Bernadetta Skora, Poland
Mother of PFIC 2 child, Anna

Walter Perez

Walter Perez, Canada
Father of PFIC 2 child, Armando

Contact Information: walter@pfic.org