13S152: MUCking Around in the Interstitium: Roles of Genetics and Interferon in Rheumatic Interstitial Lung Diseases

Sunday, November 13, 2022

3:00 PM – 4:00 PM Eastern Time

Location: Room 119

CE: 1

All of the relevant financial relationships listed for faculty have been mitigated.

Moderator(s)

Elizabeth Volkmann, MD, MS

Associate Professor, Division of Rheumatology
University of California, Los Angeles
Los Angeles, CA, United States

Disclosure(s): Boehringer-Ingelheim: Consultant (Ongoing), Grant/Research Support (Ongoing), Speaker/Honoraria (includes speakers bureau, symposia, and expert witness) (Ongoing); Forbius: Grant/Research Support (Terminated); Horizon: Grant/Research Support (Ongoing); Kadmon: Grant/Research Support (Ongoing)

Interstitial lung disease (ILD) is a common comorbidity and frequent cause of mortality in multiple rheumatic diseases with both shared and distinct clinical presentations and pathophysiology. Recent work has highlighted genetics risk factors for ILD including the MUC5b mutation in rheumatoid arthritis-associated ILD and the COPA gene in COPA syndrome, a recently described heritable form of ILD and arthritis.

COPA syndrome is driven by the interferon/STING pathway, and interferon has recently been shown to play different roles in systemic sclerosis associated ILD and idiopathic pulmonary fibrosis. This session will highlight the genetic and immunologic abnormalities across a range of immune-mediate forms of ILD and highlight their shared and unique features

Learning Objectives:

Describe the role of MUC5b polymorphisms is RA-ILD and IPF and their implications for disease screening and treatment
Recognize COPA syndrome as a recently described genetic disease which presents with ILD and arthritis, and understand the role of the COPA gene and the interferon/STING pathway in pathogenesis
Recognize the shared and divergent cellular heterogeneity in SSc-ILD and IPF emerging from single-cell RNA sequencing data in these diseases

Presentations:

3:00 PM – 3:15 PM Eastern Time

Emerging Role of MUC5 Genetic Variants in RA-ILD: Implications for Diagnosis and Treatment
Speaker: PHILIPPE DIEUDE, MD, PhD – Université Paris Cité
3:15 PM – 3:20 PM Eastern Time

Q&A
3:20 PM – 3:35 PM Eastern Time

COPA Syndrome: Insights into a Genetic Arthritis/ILD Syndrome Driven by Interferon Pathways
Virtual Speaker: Marie-Louise Frémond, MD, PhD – Hôpital Necker-Enfants Malades
3:35 PM – 3:40 PM Eastern Time

Q&A
3:40 PM – 3:55 PM Eastern Time

Divergent Fibroblast Identities and Interferon Pathways in SSc-ILD and IPF
Speaker: Eleanor Valenzi, MD – University of Pittsburgh
3:55 PM – 4:00 PM Eastern Time

Q&A