Genomics, AI drive transformation in rare disease care

International experts participating in the second day of the Fifth MENA Congress for Rare Diseases 2026 in Abu Dhabi highlighted the growing role of genomics and artificial intelligence in transforming the diagnosis and treatment of rare diseases, enabling faster and more accurate diagnoses and supporting the development of precision medicine.

Experts from the UAE, Brazil, France, the UK, Qatar, and Bahrain discussed developments shaping the future of rare disease care, including the regulation of cell and gene therapies, the potential of umbilical cord-derived technologies in therapeutic innovation, and the UAE’s experience in rare disease genomics.

Prof. Ayman El-Hattab, Consultant in Genetic and Genomic Medicine, Director of the Genetics and Rare Disease Centre at Burjeel Medical City, and President of the Congress, said specialised scientific platforms dedicated to genetic and rare diseases play an important role in advancing patient care and improving healthcare outcomes.

He noted that the Congress seeks to raise awareness of rare diseases among healthcare professionals, support faster, more accurate diagnosis, introduce advances in treatment, strengthen collaboration between clinicians and researchers, and encourage further research in the field.

Prof. Ayman also highlighted the role of the Emirati Genome Programme in expanding access to genetic testing and supporting earlier diagnosis, strengthening efforts to identify genetic and rare diseases at an earlier stage.

He added that the Emirates Drug Establishment is working to facilitate timely access to advanced treatments, including gene and enzyme therapies, helping the UAE benefit from the latest therapeutic developments and medical technologies in rare disease care.

A key session titled “Artificial Intelligence, Research, and Innovation in Rare Diseases” brought together regional and international experts to examine how the integration of genomics and artificial intelligence can accelerate rare disease discovery and diagnosis.

Discussions focused on using genomic data to understand the underlying causes of rare diseases and to develop more precise therapeutic approaches, as well as the potential of AI to address research gaps and improve patients’ access to clinical trials.

Experts also reviewed advances in precision medicine and innovative drug development across MENA, as well as the growing role of AI and genomics in accelerating scientific research and translating discoveries into clinical care.

The program explored emerging gene-editing technologies, including CRISPR-Cas9, Prime Editing, and Base Editing, as well as research on microbe-driven epigenetic changes and the complex cellular mechanisms underlying monogenic disorders.

The day also featured presentations of three award-winning research studies focusing on Huntington’s disease, Duchenne muscular dystrophy, and late-onset Pompe disease, highlighting advances in translational and clinical research and their potential to shape the future of rare disease diagnosis, treatment, and care.