Conference Session Descriptions

These Conference Session descriptions are for each webinar we had during our virtual Family Conference in July. You can read over which sessions may interest you, and watch the recorded sessions here.

Keynote Speech #1: Basics of Genetics,
Introduction to PFIC as a set of Genetic Disease of
Cholestasis

As the decades pass from the first discovery of how the genetic mutations in the FIC 1 protein, BSEP protein and MDR3 protein cause a disease that is now named Progressive Familial Intrahepatic Cholestasis, science and medicine continue to evolve. Not only are new mutations being identified that cause these diseases of cholestasis, but an understanding of how the different mutations in the same gene can cause varying levels of disease is expanding.
 The two keynote speeches in our conference aim to demystify the general term of “PFIC.” In the first keynote you will learn what these genes do, what can go wrong with the hepatic excretion of bile acids/bile formation, what genetic reports mean, and what the challenges can be in achieving a genetic diagnosis. The second keynote will take a deep dive into each of the genes that have been identified to date, what is understood about the spectrum of each disease, and what still is yet to come.

What’s in the Research?

Science is rapidly evolving in the field of understanding PFIC. Researchers have come a long way, but there is still a long way to go. In this panel session, Dr. Verkade will give a presentation on the NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium. A global network focused on rare genetic liver diseases in the PFIC Spectrum.

Why do PFIC patients itch? What causes cholestatic pruritus and what is being done to fix it? These seems to be the million dollar questions, but are very hard to answer. Dr. Binita Kamath will give a breakdown of what has been studied, how clinicians are trying to develop tools to measure it, and why it is such a complex and challenging topic.

The last bit of this session will take a look at the PFIC patient self-report registry. Alyssa Mendel will introduce CoRDS and share how your data is stored and can be used by researchers. Professor Lubke will share some data that is available from participants so far. She will share with us how building our registry can be meaningful to researchers and help to accelerate research in PFIC in areas that will directly impact patient lives.

What is PFIC? For young patients.

The idea for this session was created a few months back, when my daughter, Cedar, asked me one morning..”Mom, what does it mean to have PFIC? I mean, I know that my liver didn’t work as a baby and I needed a new one, but what was wrong with it?”

At that time, we pieced together random information on the liver, bile and transplant from all areas of the internet. But nothing was specific to PFIC. Now that she is 9, she knows that she had PFIC, and had to have a liver transplant, but now she has a lot of questions as to what does that all mean.

Dr. Squires has graciously agreed to give a talk that is geared toward the young patient. He is planning to give a short talk with visuals and then leave himself open to questions. This is PFIC 101 in its most basic way.

Pruritus and Nutrition in PFIC: Back to the Basics

Pruritus: What is the difference between pruritus, itching scratching? We know the impact on patients is devastating, but why is it so difficult to get a hold of? This session will dive back into the basics of pruritus. It will complement the earlier session which will show what scientists are doing to improve understanding, what the current medication trials are showing, and some new approaches to managing pruritus may need to be considered.

Nutrition: Why does cholestasis cause our bodies to not absorb fats and fat soluble vitamins. Why is it so important for our bodies to have adequate levels of vitamins A, D, E and K? What does it all mean? How does malabsorption affect PFIC patients and what can we do to get a handle on it.

This talk will explore some of the two more common concerns that PFIC families encounter, pruritus and nutrition, and help us to view these in their most basic way.

Considerations today: Covid & PFIC

This talk is dedicated to COVID considerations for PFIC patients and for post transplant patients in relation to risks, vaccination, and other concerns. Dr. Sokol will give a presentation based on current knowledge and understanding of COVID and how it relates to our community. He will leave time for questions relating to the topic.

Ambassador Training

For those who have served as ambassadors and mentors. There are more resources available for both PFIC and the rare disease community than we may be aware of. This program is designed to teach ambassadors about the various resources that exist, ways that we can work with others to identify needs for our PFIC community and help to share our voice in those who are working towards improving outcomes for all. Learn how we can both build resources that are available to PFIC patients and families AND work together to improve the lives of patients and families who are affected by PFIC.

This session is a series of short presentations from a few different organizations from different parts of the world. We will hear about each of their resources, activities and advocacy opportunities that are available for the PFIC and Rare Disease community. We will have an opportunity to ask questions and network with these amazing advocates who are spending their time improving the lives of the rare disease community. 

This is a truly inspiring group of people. We hope to see all ambassadors at this session.

Keynote Speaker #2: Genetics of PFIC by
Subtype

As the decades pass from the first discovery of how the genetic mutations in the FIC 1 protein, BSEP protein and MDR3 protein cause a disease that is now named Progressive Familial Intrahepatic Cholestasis, science and medicine continue to evolve. Not only are new mutations being identified that cause these diseases of cholestasis, but an understanding of how the different mutations in the same gene can cause varying levels of disease is expanding.
 The two keynote speeches in our conference aim to demystify the general term of “PFIC.” In the first keynote you will learn what these genes do, what can go wrong with the hepatic excretion of bile acids/bile formation, what genetic reports mean, and what the challenges can be in achieving a genetic diagnosis. The second keynote will take a deep dive into each of the genes that have been identified to date, what is understood about the spectrum of each disease, and what still is yet to come.