The upcoming PTEP webinar titled “Early Diagnosis of Menkes Disease” is scheduled for May 7 at 17:00 CEST. This webinar, hosted by MetabERN in collaboration with Menkes International Association, aims to provide a comprehensive overview of the critical importance of early diagnosis in Menkes Disease. This rare and severe metabolic disorder affects copper transport in the body and can lead to significant neurological and systemic consequences if not identified and treated promptly.
Leading experts in the field will discuss the earliest clinical signs and symptoms, current diagnostic approaches, and the evolving landscape of genetic and biochemical testing. Particular emphasis will be placed on the impact of timely recognition and intervention, highlighting how early diagnosis can significantly influence patient outcomes and improve quality of life.
The webinar will be moderated by Aurora Mateos, founder and director of the Menkes International Association, alongside with Prof. François Eyskens, Programme Leader of the Education and Training Work Package of MetabERN. Attendees can look forward to insightful keynote presentations from Dr. Nina Horn of the John F. Kennedy Institute and Dr. Diego Martinelli from Bambino Gesù Children’s Hospital. The session will also feature a Q&A segment, providing an opportunity for participants to engage directly with the speakers.
This webinar is designed to equip healthcare professionals, researchers, and caregivers with practical insights to enhance early recognition of Menkes disease, facilitate timely referral to specialist centres, and support optimal clinical management during the most critical early stages.
Registration deadline: 7 May, 13:00 CEST.
