Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central and peripheral nervous systems, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions, confusing non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment significantly affect the conditions’ development and the patient’s health and quality of life. This delay in referral and treatment must be overcome.
Duration: 30 minutes, followed by questions from the audience
Presenter: Alessandra Biffi, Director of the Gene Therapy Program, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Harvard Medical School, United States
This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Neurologists and other physicians and healthcare professionals with an interest in Metabolic Diseases and Genetics.
Introduction to Microglia - a specialised population of macrophages-like cells in the CNS
Reviewing microglia’s involvement in promoting or limiting the pathogenesis of diseases
Exploring the potential for the management and treatment of neurometabolic disorders