Publications

Roundtable discussion on the urgent need to include SMA in newborn screening programmes across Europe

26/03/2021
Description:

Agenda

  1. Welcome and introduction by SMA Europe
  2. Opening remarks by Mr. Cyrus Engerer, Member of European Parliament, Malta
  3. Roundtable participants will discuss the importance of newborn screening for SMA:
    • Dr. Stelios Kympouropoulos, Member of European Parliament, Greece
    • Mrs. Marie-Christine Ouillade, Chair of SMA NBS Alliance Steering Committee, SMA Europe, AFM Telethon
    • Ms. Jana Popova, patient advocate with EAMDA, European Patients Forum
    • Professor Eduardo Tizzano, Head of Pediatrics and Director Department of Clinical and Molecular Genetics, Hospital Universitari Vall d’Hebron
  4. Video message from Ms. Claudia Gamon, Member of European Parliament, Austria

 

The event was moderated by Dr. Andreas Reimann, Co-founder and managing partner, admedicum

244th ENMC International Workshop: Newborn Screening in Spinal Muscular Atrophy

15/05/2020
Description:

Clinicians, newborn screening specialists, economists, geneticists, patients and patient advocates, and industry representatives from 12 countries convened in The Netherlands for an international workshop on newborn screening (NBS) for spinal muscular atrophy.

The aim of this workshop was to synthetise the available information on NBS technical, ethical, economical and practical aspects, and to identify the gap in current knowledge of patients identification and communication of diagnosis and treatment following NBS.

The resulting publication is available here.