(2024) PFIC in Adults: Diagnosis & Onset

PFIC in Adults: Diagnosis & Onset

2024 PFIC Family & Scientific Conference Family Session

Speaker: Dr. Silvia Vilarinho. Click to read more about Dr. 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. Vilarinho is very committed to make ‘genomic medicine for liver disease’ a reality in clinical practice worldwide.

PFIC has historically been diagnosed in pediatrics. However in recent years increasing knowledge has led to the diagnosis of PFIC and related diseases in teens and adults. Within the past 5 years, an increasing number of publications are highlighting the spectrum of disease. Adult hepatologists will need to become increasingly aware of these diseases both for diagnosis and adequate management.

This presentation was recorded at the 2024 PFIC Family & Scientific Conference hosted in partnership with Cincinnati Childrens Hospital. Find out more about PFIC Network Conferences!