Riyadh, Kingdom of Saudi Arabia-February 2024- Riyadh to host the Saudi Rare Disease Summit on 16 -17 February 2024, organized by the Saudi Pediatric Neurology Society (SPNS), and Maarefah Management the world-class events management company, and accredited by the Saudi Commission for Health Specialties, and supported by the Rare Disease Day, the event is a unique platform that explore the area of rare diseases and fosters collaboration among diverse stakeholders, such as researchers, clinicians, caregivers, and policymakers for optimizing patients’ care.

The leading summit regionally will be held in line with the Rare Disease Day, the program aims to cover a wide range of topics related to rare diseases, from cutting-edge research to patient-centric approach, as well as novel therapies and treatments. It also creates a friendly environment for engaging and empowering rare disease multidisciplinary teams, highlighting the importance of their perspective in rare diseases research and care, and emphasizing on the importance of a holistic approach to rare disease management.

The list of local, regional and international speakers experts in the field of rare diseases includes: Prof. Fahad Al Bashiri, professor, consultant pediatric neurologist and epileptologist, college of medicine, King Saud University Medical City, King Saud University, KSA and chairman of Saudi Rare Disease summit. Prof. Ahmed Al-Jedai, Assistant Deputy Minister for Medical Support Services, Deputyship of Therapeutic Affairs, Ministry of Health, KSA. Dr. Khalid Hundallah, consultant pediatric neurologist, Prince Sultan Medical Military City, vice president, Saudi Pediatric Neurology Society, KSA. Dr. AbdulAziz Al Ghamdi, pediatric neurologist and epileptologist consultant, Prince Sultan Military Medical City, KSA. Dr. Ahmed Alanazi, Assistant Professor of Pediatrics, Imam University, Riyadh, KSA, Consultant pediatric neurology KSUMC, KSA. Dr. Aqeela Alhashem, consultant pediatric neurologist- neuro geneticist, National Neuroscience Institute, King Fahad Medical City, KSA. Dr. Musaed Abukhalid, consultant pediatric neurology, epilepsy and stroke, section head of pediatric neurology, King Faisal Specialist Hospital & Research Centre, KSA. Dr. Malak Alghamdi, medical geneticist, head of medical genetic division, King Saud University Medical City, KSA. Dr. Ahmed Bamaga, consultant pediatric neurologist & neuromuscular disorders, associate professor, King Abdulaziz University, KSA. Prof. Eugenio Mercuri, Professor, Catholic University, head of pediatric neurology Unit, Policlinico Gemelli, Italy. And more.

This year, the Saudi Rare Disease summit focuses on a number of the most important topics related to rare diseases, including the role of Artificial Intelligence in diagnosing and treating Rare Diseases, local & international RWE In spinal muscular atrophy management, small molecule therapeutics and orphan drug development, current status of gene therapy for Rare Diseases, and challenges and future directions, newborn screening for Rare Diseases, gene therapies and precision medicine in Rare Diseases, SMA in Focus: local & international RWE In spinal muscular atrophy management, small molecule therapeutics and orphan drug development, role of risdiplam in SMA treatment from clinical evidence to clinical practice, challenges and successes in diagnosis of Rare Diseases