Highlights the role of artificial intelligence in early rare disease detection, diagnosis, and treatment, with the participation of more than 200 local, regional, experts

Prof. Fahad Al Bashiri : Experts will explore innovative approaches to diagnosis, treatment, and patient care

The 3rd Saudi Rare Disease Summit opened its doors today in Riyadh, the two days leading event organized by Saudi Pediatric Neurology Society, KSA, and Maarefah Management the world-class events management company, with the participation of more than 200 distinguished local, regional and international experts in the field of Rare Disease, and its 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 program aims to cover a wide range of topics related to rare diseases, from cutting-edge research to patient-centric approach, as well as innovative treatments.
Prof. Fahad Al Bashiri, Professor, Consultant Pediatric Neurologist and Epiliptologist, Department of Pediatrics, College of Medicine, King Saud University, President, Saudi Pediatric Neurology Society, KSA, said: “The two-day leading summit stands out as a platform for sharing the latest advancements in rare disease management, experts will explore innovative approaches to diagnosis, treatment, and patient care, and insights from local and regional experts to enhance the knowledge and practices of participants. A key highlight of this year’s summit is a special session dedicated to empowering patients and families. and will focus on and discuss challenges they face and potential solutions stakeholders propose and the experts”.

This year, the local, regional, and international speakers and experts in the field of rare diseases participating in the event include: Prof. Fahad Al Bashiri, Professor, Consultant Pediatric Neurologist and Epiliptologist, Department of Pediatrics, College of Medicine, King Saud University, President, Saudi Pediatric Neurology Society, KSA . Dr. Khalid Hundallah, Consultant Pediatric Neurology, Chairman of Paediatric Department, Prince Sultan Medical Military City, Vice President, Saudi Pediatric Neurology Society, KSA . Prof. Ahmed Al-Jedai, PharmD, MBA, BCPS, FCCP, FAST, FASHP, Founding President, Saudi Society of Clinical Pharmacy, Professor, Colleges of Medicine and Pharmacy, Al Faisal University; Consultant Clinical Pharmacist, Solid Organ Transplant, KSA . Dr. Aqeela Alhashem, Consultant Pediatric Neurologist- Neuro geneticist, National Neuroscience Institute, King Fahad Medical City, KSA . Dr. Mohammed Al-Omari, Assistant Professor, Pediatric Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Pediatric Neurology Consultant, King Fahad University Hospital, KSA . Dr. Abdulaziz Al Ghamdi, Pediatric Neurologist and Epileptologist Consultant, Prince Sultan Military Medical City, KSA . Dr. Musaad Abukhaled, Consultant Pediatric Neurologist & Epilepsy and Stroke Section Head of Pediatric Neurology, King Faisal Specialist Hospital & Research Centre, KSA . Dr. Ahmed Alfares, M.D, FRCPC, FACMGG, FCCMG, Deputy Executive Director, Senior Consultant, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, KSA . Dr. Abrar Hudairi, Consultant Pediatric Neurology and Consultant Pediatric MS and Neuroinflammatory, Assistant Professor, King Saud University, King Khalid University Hospital, KSA. And more.
Dr. Mohammed Al-Omari, Assistant Professor, Pediatric Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Pediatric Neurology Consultant, King Fahad University Hospital, KSA, commented: “Rare diseases are rare, but together they affect millions, reminding us that every life matters. Each single condition may only affect a small number of patients, but collectively they constitute a large entity, touching families and communities. It’s important to raise awareness and work together to solve the challenges that face rare disease patients. Everyone with a rare disease deserves hope, care, and a better future”.
“A 10-month-old boy presented with a 1-day history of flaccid quadriplegia and dysconjugate gaze. His history was remarkable for stereotyped episodes of flaccid quadriplegia or hemiplegia, oculomotor abnormalities, and limb or neck posturing, beginning in the first days of life and becoming more frequent and more prolonged over time. The patient was healthy and developmentally normal between episodes. Results of extensive laboratory evaluations, including EEG and brain imaging studies, were negative. The patient’s history, diagnostic evaluation, and final diagnosis are reviewed. This case illustrates the importance of a fundamental understanding of neurologic localization in pediatric care and a focused diagnostic approach to an infant with paroxysmal neurologic signs” , said, Prof. Mohammed M. Jan, Professor and Consultant of Child Neurology and Clinical Neurophysiology, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, KSA.