Upcoming Pediatric and Rare Liver Diseases Council Semi-Annual Meeting
Our upcoming council meeting is scheduled for May 8, 2024. We’re thrilled to welcome Alex Betourne, PhD, PharmD, the Scientific Director for the Rare Disease Cures Accelerator-Data and Analytics Platform initiative, who will speak on the importance of data readiness and how to prepare data for clinical trial processes. We are so excited to convene all of our council members for a robust conversation about the plans for both the beginning and the second half of 2024. Stay tuned!
Driving innovation and conversation at the PBC Foundation Summit
In April, GLI Program Director Kristin Hatcher was invited by the PBC Foundation to engage with patient advocacy groups, industry partners, and patients during the it’s International Summit in Edinburgh, Scotland. Discussions at the summit focused on enhancing patient care and establishing strategic plans to foster collaborative initiatives benefiting primary biliary cholangitis (PBC) patients globally. PBC Foundation’s CEO Robert Mitchell-Thain shared, “As we came together as one, to work with clinicians, academics, nurses, industry and patients to set our collaborative agenda, and to stride into action plans with tangible outcomes, it struck me that the power we have as a unit is immense. As a collective, we were able to drive the patient agenda so it became the wider agenda. It was an incredible testament to our collaboration, and to collectives such as the P&R Council, that we can stand as one and inspire the entire community to engage, to do better, and to make meaningful differences to patients’ lives.”
With various initiatives underway, we eagerly anticipate the innovative, collaborative ideas emerging from this community.
Spotlighting maternal health in Rare Revolution Magazine
The spring 2024 edition of Rare Revolution Magazine (Issue 027) spotlights Women in RARE, exploring the challenges and experiences of women in the rare disease community. We’re thrilled to be featuring insights from our Rare Liver Disease Mont 2023 campaign within this issue. Last year’s campaign delved into the intersection of pregnancy, parenthood, and rare liver diseases shedding light on the importance of liver health during motherhood. Our feature underscores the significance of proactive advocacy during all stages of life, specifically during motherhood. Please read about it on page 77 of the edition!
UC Davis Health liver transplant center receives CMS certification
After less than a year of developing a robust liver transplant program, UC Davis received its CMS certification, which allows for Medicare and Medicaid coverage. This promises improved access to care and earlier diagnosis for liver patients across California and neighboring regions.
Celebrating the creation of two new rare disease centers in the UK
Supported by the charity LifeArc, the University of Cambridge has inaugurated two novel rare disease research centers. These centers will specifically concentrate on advancing research in rare mitochondrial and respiratory diseases. By tackling a persistent issue in the rare disease domain, they aim to foster collaboration and knowledge-sharing, thereby preventing the formation of silos within the research community around the world.
New variants of PFIC5 identified
Progressive familial intrahepatic cholestasis (PFIC) continues to be a rare disease that manifests in different forms. According to a recent publication in Orphanet Journal of Rare Diseases, five new NR1H4 variants that cause PFIC5 have been identified. The gene NR1H4 provides instructions to a particular protein that plays a role in liver function. Unfortunately, these variants are characterized by rapid progression, and the sole curative option is a liver transplant.
Upcoming Events
- May 8, 2024: Pediatric and Rare Liver Diseases Semi-Annual Council Meeting
- April 29 – May 1, 2024: Global Genes RARE Drug Development Symposium
- June 7 – 9, 2024: 2024 Alpha-1 National Conference
- June 13, 2024: Global Fatty Liver Day
- June 18, 2024: Everylife Foundation Virtual Youth & Teen Advocacy Day
- June 27, 2024: Community Liver Alliance DeLIVERing Hope Ambassador Kick-Of
We’re excited to announce that the GLI team will be present at these upcoming conferences:
- May 10-11, 2024: BARE Symposium
- May 18-21, 2024: Digestive Diseases Week
- June 5-8, 2024: EASL Congress 2024
If you’re attending either of these conferences and would like to meet with us, please reach out to info@globalliver.org to schedule a meeting. We look forward to connecting with you!
For more information about the Pediatric and Rare Liver Diseases Council or to learn more about joining, please visit our webpage or email pedsrare@globalliver.org.
