New collaboration explores familial inflammatory bowel disease in Saudi Arabia

Mount Sinai and King Saud University Medical City in Riyadh, Saudi Arabia, today announced a three-year collaboration aimed at better understanding why inflammatory bowel disease (IBD) runs in some Saudi families, and how that knowledge can lead to risk ascertainment, earlier diagnosis and more personalized treatment options.

The project will focus on Saudi families with multiple members affected by IBD, including Crohn's disease and ulcerative colitis. By identifying exposure and biological markers that drive disease mechanisms and outcomes in these high-risk families, the parties aim to accelerate the development of new diagnostics and therapies tailored to individual patients around the world.

As part of the collaboration, King Saud University Medical City will identify and enroll eligible participants and collect whole blood, serum, and stool samples, along with de-identified health and family history information, from individuals with IBD and relatives at increased risk. Mount Sinai will lead advanced biomarker discovery and integrative analyses using multi-omics profiling and other state-of-the-art research tools.

Familial IBD is still poorly understood, even though families with several affected members can teach us a great deal about how these diseases develop. What makes this collaboration exciting is the ability to study well-characterized families alongside comprehensive molecular data. That combination is rare, and it gives us a real chance to pinpoint early signals of disease. Over time, we hope these insights will help clinicians recognize risk sooner and make more informed decisions about which treatments are likely to help."

 Jean-Frédéric Colombel, MD, Professor of Medicine (Gastroenterology) and Director of the Susan and Leonard Feinstein Inflammatory Bowel Disease Clinical Center at the Icahn School of Medicine at Mount Sinai

The collaboration is designed to enable structured sample collection, data sharing, and joint analyses, creating a unique resource of high-quality biospecimens linked with detailed clinical information and family pedigrees. By studying families particularly likely to experience the genetic, nongenetic, and biological factors that influence IBD, the project aims to inform the development of next-generation diagnostic tools and therapies. If successful, the findings could help clinicians identify at-risk individuals sooner, stratify risk in high-burden families, and tailor treatments with greater precision.

"Familial IBD gives us a rare opportunity to study the immune system in a context where genetics and environment are clearly interacting," says Miriam Merad, MD, PhD, Chair of Immunology and Immunotherapy and Director of the Marc and Jennifer Lipschultz Precision Immunology Institute at the Icahn School of Medicine at Mount Sinai. "When several people in the same family are affected, we can follow how immune signals shift over time and begin to understand why some relatives develop disease while others do not. The combination of high-quality samples and detailed clinical histories will allow us to map those immune changes with much more clarity. That knowledge is critical if we want to build diagnostics or treatments that truly meet patients where they are, rather than relying on a one-size-fits-all model of care."

Operational next steps include finalizing cohort size, visit schedule, and logistics for regulatory approvals, sample handling, and data transfer. After the initial three-year term, Mount Sinai and King Saud University Medical City may consider extending the collaboration to pursue promising discoveries into translational studies.

"For families living with IBD, uncertainty can last for years-especially for relatives who worry they may be next," says Nahla Azzam, MD, Professor of Medicine at King Saud University and IBD consultant at King Saud University Medical City. "Familial clustering gives us a valuable opportunity to recognize earlier patterns of risk and disease activity. By following families carefully and linking clinical histories with high-quality biospecimens, we hope to shorten the time to diagnosis and guide treatment choices with greater confidence and better outcomes." 

"This collaboration reflects our commitment to building a discovery platform that translates rigorous clinical data into actionable precision medicine," says Abdurahman Niazy, PhD, Director of the Prince Naif Bin Abdulaziz Health Research Center, the research arm of King Saud University Medical City. "By combining KSUMC's ability to identify and characterize high-risk familial cohorts with Mount Sinai's advanced multi-omics and integrative biomarker discovery capabilities, we aim to define clearer biological signals that support earlier risk assessment and more precise, individualized treatment strategies-first for families in Saudi Arabia, and ultimately for patients worldwide." 

"This work exemplifies a shared dedication to advancing science in immune-mediated diseases through truly global collaboration," says Manasi Agrawal, MD, MS, inaugural Director of Environmental Gastroenterology in the Henry D. Janowitz Division of Gastroenterology, and Assistant Professor in the Departments of Medicine and Environmental Medicine at the Icahn School of Medicine at Mount Sinai. "As inflammatory bowel disease continues to increase worldwide at an unprecedented pace-closely tracking major environmental and lifestyle changes-the need to unite complementary strengths has never been more urgent. By combining rigorous clinical and biomarker data, deep scientific expertise, and a common focus on the lived experiences of families affected by IBD, we are creating opportunities for discovery that would not be possible independently. Together, we are laying the groundwork to uncover clearer biological signals and to chart a path toward earlier diagnosis and more effective, personalized treatment strategies-and, ultimately, enabling IBD prevention and risk mitigation."