Mount Sinai and Saudi Arabia Launch Three-Year Study of Families With Multiple IBD Cases

Inflammatory bowel disease - the category that includes Crohn's disease and ulcerative colitis - has been increasing in prevalence globally at a pace that correlates strongly with urbanization, dietary shifts, and environmental change. In Saudi Arabia, as in much of the developing world, IBD incidence has risen sharply in recent decades. And within that population, something specific draws scientific attention: certain Saudi families carry multiple affected members across generations.

That familial clustering is a research opportunity. When several people in one family develop the same immune-mediated disease, the genetic and environmental factors involved are concentrated and traceable in ways they are not in the broader population. Mount Sinai Health System and King Saud University Medical City in Riyadh have now formalized a three-year collaboration to systematically study those families.

What the Collaboration Involves

King Saud University Medical City will lead patient identification and enrollment - recruiting Saudi families with multiple members affected by IBD, including both Crohn's disease and ulcerative colitis. Eligible participants will contribute whole blood, serum, and stool samples, along with de-identified health and family history information. The collection will include not only affected individuals but also relatives who are currently disease-free but carry elevated risk based on family history.

Mount Sinai will conduct the analytical work, applying multi-omics profiling - which integrates genomics, transcriptomics, proteomics, and metabolomics into a single analytical framework - alongside other research tools to identify biological signals that distinguish individuals who develop IBD from those who do not, even within the same high-risk families.

"Familial IBD is still poorly understood, even though families with several affected members can teach us a great deal about how these diseases develop," said Jean-Frederic Colombel, MD, director of the Susan and Leonard Feinstein IBD Clinical Center at the Icahn School of Medicine at Mount Sinai. "That combination is rare, and it gives us a real chance to pinpoint early signals of disease."

The Scientific Case for Familial Cohorts

IBD research has historically been conducted primarily in European and North American patient populations. Saudi familial IBD cases may differ from those populations in genetically and environmentally meaningful ways - patterns of genetic variation, dietary exposures, microbiome composition, and healthcare access that together shape how the disease presents and progresses are all different. Studying a population where the disease clusters in families, and where the environmental background is distinct from existing research cohorts, could identify disease mechanisms that population-level studies in more heterogeneous groups would miss.

"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," said Miriam Merad, MD, PhD, director of the Marc and Jennifer Lipschultz Precision Immunology Institute at Mount Sinai. "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."

Ambitions and Early-Stage Realities

The collaboration's stated goals include identifying early biological signals that could support risk stratification, shortening diagnostic delays, and developing more precise treatment strategies. Those are aspirational targets for a three-year discovery study. The immediate deliverable is infrastructure: a well-characterized biospecimen collection linked to detailed clinical and family history data, the kind of resource that enables downstream hypothesis testing rather than producing immediate clinical applications.

IBD diagnosis currently takes an average of several years from first symptom onset, particularly for Crohn's disease. If multi-omics analysis of high-risk family members can identify predictive biological signatures years before symptoms appear, the implications for screening programs would be significant. But that translation from discovery to validated diagnostic tool requires extensive subsequent validation work beyond the scope of the initial three-year agreement.

Operational details - cohort size, visit schedule, regulatory approvals, sample handling protocols, and data transfer agreements - are still being finalized. The parties have indicated the collaboration may be extended after the initial three years if early findings warrant continued investment.