Alagille Syndrome Alliance

#ScienceSunday – Your Voice is Critical Alagille Syndrome affects more than the liver and heart—and our community has the power to uncover how. Ken K. Nischal MD,FAAP,FRCOphth, joins Karsten Baumg?rtel, ALGSA Scientific Research Coordinator, to discuss the?Eye Research Focus Group?within our Scientific Research Network. Their message is clear:?We need YOU to take part in shaping what we know about eye involvement in Alagille Syndrome. ???CALL TO ACTION: If you or your child has an Alagille Syndrome diagnosis—**whether or not you’ve been told you have eye issues—**we need your input. This tailored, intuitive survey adapts to your answers and captures essential data from patients across the entire spectrum of vision health. Your experience could hold the key to future discoveries! Let’s advance the science—together. Physicians - Please send to your ALGS patients and families anywhere in the world! ?? Take 10 minutes. Change what’s known. ???Take the survey now: English: https://lnkd.in/gdTcSRxm Spanish:?https://lnkd.in/gq4vCuv5 Portuguese:?https://lnkd.in/gBnPKCmT Turkish:?https://lnkd.in/grvKRkCX #AlagilleSyndrome #PatientVoice #VisionResearch #RareDiseaseResearch #ALGSA #AlagilleScience #EyeSurvey #PatientPoweredScience

Insights from patients and clinicians suggest a link between Alagille Syndrome and eye health—a connection that has yet to be fully explored in scientific research. The Alagille Syndrome Alliance (ALGSA) is working with researchers, clinicians, and patient advocates to collect crucial data through a patient-reported Alagille Eye Survey. This data will lay the foundation for a full research study to better understand ocular phenotypes in Alagille Syndrome. We would appreciate the support of our medical, professional, and scientific community. All Alagille patients should complete the survey regardless of whether they have eye involvement or not. Those without eye involvement offer essential control data. Alagille patients and their caregivers can complete the survey by going to: https://lnkd.in/gdTcSRxm

Today, on behalf of the ALGSA, President, Roberta Smith, joined the American Association for the Study of Liver Diseases (AASLD) Virtual Hill Day, advocating for liver disease research and care. Key advocacy areas discussed include: *Supporting critical funding for liver disease research and services *The inclusion of specific language in the report that accompanies the fiscal year 2026 Labor, Health, and Human Services appropriations bill which highlights the importance of prevention and early detection of liver diseases. *Asking members of the House to join the Congressional Hepatitis Caucus which serves as a resource related to prevention and treatment of viral hepatitis. *Supporting specific language requesting Secretary of HHS to assemble a report and briefing on existing programs and investments in prevention, screening, and research on liver disease *For Congress to appropriate at least $51.3 billion for NIH which would allow for expanding NIH's capacity to support promising science. WHY DO THESE POINTS MATTER FOR THE ALGS COMMUNITY? 1) Increasing NIH funding and/or supporting funding for liver disease research and care can impact funding received by scientists and researchers working on ALGS and improve the application processes. A rising tide lifts all boats! 2) Treatment for Hepatitis B has improved the availability for liver donations to those currently on the list. Now, as Hep B treatment has improved, livers infected with Hep B can be donated to liver disease candidates on the list and then treated after transplant, opening up another option for liver donation. "As my daughter's wait on the liver transplant list grew longer and her health declined, I was grateful that electing for another option - a liver from a donor with Hep C - could open the door further for donation. We signed a simple waiver allowing this option should the availability arise. Just knowing this could improve chances for liver donation helped ease our worries even more." ~Roberta Smith 3) Expanding NIH funding capacity is critical for liver disease research! The ALGSA is unique in that we have a 3-way partnership with NIH, the only one in the US of its kind, looking at the root cause of liver disease associated with Alagille Syndrome. Opening the door for these opportunities is pivotal and the continuation of funding unique projects like this and others can lead to answers above and beyond rare liver disease, chronic liver disease, and expand knowledge in other disorders. Spoke with: 1) Legislative Director for Representative Debbie Dingell (D-MI) 2) Policy Advisor for Senator Elissa Slotkin (D-MI) 3) Legislative Assistant for Representative Sean Casten (D-IL) 4) Senator Gary Peters (D-MI) The ALGSA's mission: "Mobilizing resources, facilitating connections, promoting unity, and advocating for a cure to inspire, empower, and enrich the lives of people affected by Alagille Syndrome." We work hard everyday to meet the needs of the ALGSA community!

The ALGSA is growing once again. We would like to welcome Kevin Diaz, ALGS dad, as our new Administrative Assistant. Kevin will be working a few hours per work as we continue to scale up the organization. The ALGSA is still a small nonprofit with now 3 full-time employees and 3 contract, limited-hour staff. We continue to improve services, the look and feel of our website and organization, and our programming as we move into the future. Your support and understanding has been so appreciated. Our goal is to always work hard to ensure patients and families around the world are supported in many different ways! Please give a warm welcome to Kevin. We look forward to working with him each day! My connection with the Alagille Syndrome Alliance (ALGSA) began in 2019 when my son, Samuel, was diagnosed with Alagille Syndrome. Facing uncertainty, our family found invaluable support and resources through ALGSA, inspiring me to contribute to their mission. I began my community-focused career at the Florida Health Department in 2012, transitioning to a community-based organization in 2015. By 2021, I served as the Practice Administrator for a specialty disease clinic. Seeking comprehensive care for Samuel, I enlisted in the U.S. Army, accessing programs like the Exceptional Family Member Program (EFMP) and the Extended Care Health Option (ECHO), which provided essential support. As I approach medical retirement, our family will continue to benefit from TRICARE coverage, ensuring Samuel’s ongoing care. While ECHO benefits are exclusive to active-duty families, TRICARE offers robust support for retirees, allowing us to seamlessly transition Samuel’s healthcare needs. I am thrilled to join the ALGSA team and look forward to contributing to an organization that has profoundly impacted our lives. Outside of work, I cherish time with my family, exploring new places, and engaging in community initiatives. Kevin

Thank you @everylifeorg for awarding us the Rare Giving Sponsorship for our summit June 26-28! Register at the summit website www.liverdiseasesummit.org

2025 Cholestatic Liver Disease Summit Accepting Abstract Submissions for short talks and flash talks! Abstract submission provides the opportunity to be selected for presentation of a 10 minute short talk or a 3 minute flash talk. A total of 8 short talks will be selected for presentation within the topic sessions of the Scientific Meeting on June 26, 2025. A total of 10 flash talks will be selected to generate a stand alone flash talk session at the Scientific Meeting on June 26, 2025. To help alleviate costs and encourage participation, travel awards will be given to the short talk and flash talk selected presenters. Please note, there will be additional opportunities to discuss your research at the disease specific Scientific Roundtables (ALGS, BA, PFIC, and PSC) on June 27, 2025. Deadline for abstract submission: 10am EST on Wednesday April 2, 2025 Submit here or click to visit the event website: https://lnkd.in/gGdZEhMP

We are honored to welcome Dr. Ronald J. Sokol, MD, FAASLD, as the keynote speaker for the Cholestatic Liver Disease Summit 2025. Dr. Sokol is a renowned pediatric hepatologist, researcher, and leader in liver disease, with decades of contributions to the field. As a distinguished professor and former Chief of Pediatric Gastroenterology, Hepatology, and Nutrition at the University of Colorado, his work has advanced understanding and treatment of cholestatic liver diseases. Join us as Dr. Sokol shares his invaluable insights at the 2025 Liver Disease Summit! Tickets and event information are available on our event website liverdiseasesummit.org Children's Hospital Colorado, BAREinc.org, PFIC Network, Alagille Syndrome Alliance

What is Alagille Syndrome (ALGS)? Alagille Syndrome (ALGS) is a rare genetic disorder that primarily affects the liver, heart, skeleton, eyes, and kidneys. Its severity varies from person to person, even within the same family. ALGS is caused by mutations in the JAG1 or, less commonly, the NOTCH2 gene, impacting approximately 1 in 30,000 to 1 in 70,000 individuals worldwide. At Alagille Syndrome Alliance (ALGSA), we are dedicated to mobilizing resources, fostering connections, and advocating for a cure to empower those affected by ALGS. Through education, support, and research initiatives, we strive to build a strong, informed, and hopeful community. ??Learn more about ALGS and our mission today by visiting our website: https://alagille.org/

We are grateful for amazing providers like Dr. Amber Hildreth this #RareDiseaseDay. What inspires you most about being involved in the care and support of those affected by Alagille Syndrome and other rare diseases? “I am constantly inspired by the patients and families with rare diseases. The drive and passion from the caregivers to advocate for their child and advance understanding of rare disorders is truly admirable. I am privileged to work alongside these families in hopes of bettering their lives and the lives of future children affected with rare disease.” ~Dr. Amber Hildreth, UC San Diego, Rady Children's Hospital #alagillesyndrome #rarediseaseday #rarediseasetruth

It is great to hear stories from our great partners like Lara Longpre from Mirum Pharmaceuticals on this #RareDiseaseDay. What drew you to the Alagille Syndrome community, and what continues to fuel your passion in this field? "As I reflect on the importance of Rare Disease Day, I'm grateful to Roberta and the Alagille community for openly sharing your stories and experiences as these interactions with Mirum made me passionate about finding creative solutions for the issues faced by the community and has motivated the company to bring Livmarli to Alagille syndrome patients and their families. These insights have made an enduring impact on all our rare disease drug development programs. It is so rewarding to be associated with communities like yours." ~Lara Longpre, Mirum Pharmaceuticals #alagillesyndrome #rarediseaseday #rarediseasetruth