Spotlight on the 4th International UAE Rare Disease Society Congress
The 4th International UAE Rare Disease Society Congress stands as a pivotal gathering for the medical and research communities in the United Arab Emirates and beyond. Scheduled for September 18-20, 2026, at the Le Méridien Dubai Hotel, this event under the theme "United for Rare: Empowering Families, Advancing Care" promises to bridge gaps in diagnosis, treatment, and support for those affected by rare diseases. Building on the success of previous editions, it brings together geneticists, clinicians, researchers, patient advocates, and policymakers to share cutting-edge insights and foster collaborations.
Rare diseases, defined as conditions affecting fewer than 1 in 2,000 people, collectively impact millions worldwide, with over 80% stemming from genetic causes. In the MENA region, including the UAE, an estimated 25 million individuals live with such disorders, exacerbated by high rates of consanguineous marriages that elevate the prevalence of recessive genetic conditions. The congress addresses this by highlighting research-driven solutions, from genomic sequencing to innovative therapies, positioning the UAE as a leader in rare disease management.
Historical Context and Evolution of UAE Rare Disease Initiatives
The UAE Rare Disease Society has hosted annual congresses since 2023, each building momentum in awareness and action. The inaugural event in Dubai Festival City set the stage for multidisciplinary dialogue, followed by the second in Abu Dhabi at Hilton Yas Island, which featured patient journeys and diagnostic breakthroughs. These gatherings have evolved to emphasize translational research, reflecting the UAE's commitment through programs like the Emirati Genome Programme, which sequences thousands of genomes to map local variants.
By the fourth edition, the focus sharpens on empowerment, with pre-congress workshops on September 18 delving into practical skills like genetic counseling and data registry management. This progression mirrors global trends but is tailored to MENA-specific challenges, such as limited registries and therapy access.
Core Objectives: From Awareness to Actionable Research
Organizers aim to boost awareness among healthcare professionals, share latest research on diagnostics and therapies, and promote patient advocacy. Key goals include networking for collaborations, discussing policy hurdles, and educating on early intervention—critical since many rare diseases present in childhood and are often misdiagnosed for years.
The event targets a broad audience: pediatric specialists, neurologists, genetic counselors, nurses, researchers from UAE universities like UAE University (UAEU) and Khalifa University, medical students, and rare disease families. This inclusivity ensures research translates to real-world care, with sessions on ethical dilemmas in gene editing and AI applications.
Genetics and Genomics: UAE's Research Frontier
Genomics dominates the agenda, reflecting UAE's investments. UAEU's Genomics Lab has identified over 400 mutations in Emiratis, focusing on metabolic disorders like GM1 gangliosidosis prevalent locally. Recent studies from Dubai Health Genomic Center used long-read sequencing to uncover novel variants in 1333 Emirati patients, enhancing diagnostic yield for undiagnosed cases.
A landmark 2025 Nature Communications paper detailed a UAE-based Arab pangenome reference from 53 diverse individuals, revealing 111 million new base pairs and 8.94 million population-specific variants—vital for precision medicine in consanguineous populations. Attendees will explore how such tools accelerate gene discovery.
Newborn Screening and Early Diagnostics
One highlight is newborn screening for rare disorders. UAE's expanded programs detect conditions like mucopolysaccharidosis (MPS) early, where machine learning models from UAE records achieved superior diagnosis accuracy in a 2025 Scientific Reports study. Sessions will cover challenges like variant interpretation in Arab genomes and integration of next-generation sequencing (NGS), reducing the diagnostic odyssey from years to months.
Experts from Khalifa University's Center for Biotechnology will likely discuss local initiatives, aligning with the Department of Health – Abu Dhabi's first gene therapy trial for inherited retinal dystrophy set for 2026.More on UAE's gene therapy milestone
Photo by Joachim Schnürle on Unsplash
Innovative Therapies: Gene Editing and Beyond
Clinical trials and novel therapies take center stage. UAE's push into CRISPR-based treatments targets neurodevelopmental disorders like autism subsets and epilepsy, with projects using AAV vectors informed by Emirati genomic data. Discussions will include ethical considerations, trial design for small patient pools, and regional access barriers.
From ASO therapies to small molecules, the congress spotlights how UAE universities collaborate with global partners, like Khalifa University’s genetic engineering efforts addressing food security-linked rare metabolic issues indirectly through biotech.
The Role of AI and Registries in Transforming Care
Artificial intelligence emerges as a game-changer, with sessions on AI-driven diagnostics and registries. UAE's rare disease registry initiatives, inspired by global models, aim to aggregate data for better epidemiology. AI models predict MPS progression from medical records, showcasing UAE-led ML innovations.
Registries enable real-world evidence, crucial for orphan drugs. Attendees will debate data privacy versus research needs, drawing from UAEU's mutation database with 665 Emirati-linked conditions.
Patient-Centered Care: Advocacy and Family Support
Empowering families is core, with dedicated tracks on advocacy, psychosocial support, and quality-of-life improvements. Rare heroes—patients and caregivers—share stories, highlighting journeys from misdiagnosis to managed care. This human element complements research, fostering empathy-driven policies.
In the UAE, where cultural stigma persists, sessions address multidisciplinary teams involving dietitians, physiotherapists, and psychologists, ensuring holistic management.
UAE Higher Education's Pivotal Role in Rare Disease Research
UAE universities drive progress. UAEU's Khalifa Center for Genetic Engineering explores arid-region genetics, linking to rare disorders. Khalifa University advances cardiovascular genomics and endometriosis polymorphisms, extending to rare variants. Collaborations with PureHealth's Abu Dhabi Health Research Centre amplify clinical innovation.
Students and faculty from these institutions contribute abstracts, positioning UAE higher ed as a hub for genomic medicine tailored to Arab populations.
Challenges, Future Directions, and Regional Impact
Challenges include therapy affordability, skilled workforce shortages, and data silos. Future directions: expanded screening, pan-Arab registries, and gene therapies scaling regionally. The congress will outline roadmaps, leveraging UAE's Vision 2031 for health tech.Official congress site for updates
By 2030, UAE aims to pioneer MENA genomic leadership, with congress outcomes informing policies. Participants gain CME credits, networking, and exposure to breakthroughs like pangenome references revolutionizing Arab disease modeling.
Photo by KOBU Agency on Unsplash
Why Attend: Opportunities for Researchers and Students
For higher ed professionals, the congress offers abstract submissions (open now), poster sessions, and workshops on NGS and AI. Registration starts at AED 900 for doctors, with family days at AED 500. Early involvement shapes agendas, advances careers, and contributes to UAE's research ecosystem.Download brochure
Join to witness how UAE research propels global rare disease solutions, from lab to bedside.
