Emphasizing the Importance of Using Patient-Reported Data at the DIA 2025 Conference, Washington, D.C.

Kristin Hatcher, Director of GLI’s Pediatric and Rare Liver Disease Program, joined U.S. and global pharmaceutical leaders for a powerful discussion on gaps in drug development and the critical need to include lived patient experience in both rare and common diseases. She emphasized the value of real-world data, often captured by patients and caregivers, that is too often overlooked in clinical and research settings. The DIA 2025 conference provided an ideal platform to reinforce why patient-focused data and patient-reported outcomes must be central to the future of drug development.

Rare Diseases Spotlighted During the BIO 2025 International Convention, Boston, MA 

Meaningful conversations took center stage at the BIO International Convention in Boston, MA, where patients, physicians, and biotechnology leaders united around a powerful message: “The world cannot wait.” Throughout the sessions, there was a strong focus on advancing rare disease policy, especially around the ORPHAN Cures Act and reforms to small molecule funding under the Inflation Reduction Act. Key highlights also included ongoing efforts to preserve priority review vouchers and critical tools to keep rare disease drug development moving forward. 

Building on this momentum, FDA Commissioner Martin Makary emphasized innovative strategies to prioritize rare diseases while reducing duplication within the agency, aiming for a more collaborative and efficient approach and Amy Cornstock Rick, CDER’s Associate Director for Rare Disease Strategy reinforced that the Rare Innovation Hub will continue to guide drug development with one clear goal: ensuring patient voices remain at the heart of every conversation.

New – Is Your Liver Healthy? Fatty Liver Disease Risk Assessment Quiz
Take this quick, confidential quiz from Global Liver Institute to better understand your risk for fatty liver disease. In just a few minutes, you’ll gain valuable insights and learn whether it’s time to speak with your healthcare provider about your liver health.

Save the Date: Global Liver Institute’s Liver Health Symposium, Minnesota

Join us on September 20 in Bloomington, MN, for the Liver Health Symposium—a one-day, in-person event bringing together patients, caregivers, providers, and advocates to learn more about liver health.

With two tracks—one for the community and one for providers—this event offers education and powerful tools to prevent, detect, and treat liver disease. Whether you’re navigating liver health or leading care, the symposium connects you to the latest knowledge and a passionate community ready to make a difference.

Barcelona Hospitals Lead Genomic Screening for Rare Diseases 

Hospital Clínic Barcelona-IDIBAPS and Hospital Sant Joan de Déu are partnering with the CrinGenES project to screen newborns for up to 300 rare genetic diseases through genomic sequencing. With over 7,000 known rare diseases, this initiative could dramatically improve early diagnosis and outcomes. It’s important to note, the screening will focus on conditions that have available treatments, ensuring that babies diagnosed can be connected to care plans right away. 

In addition to detection, the hospitals are actively working with researchers to enhance the interpretation of genetic variants and identify new biomarkers, advancing how these rare diseases are understood and managed. CrinGenES positions Europe as one of the key leaders in the future of genomic newborn screening and patient-centered innovation.