Latest news

Nov 14, 2022

Newborn screening for SMA in Romania event

The Romanian Association SMACARE in partnership with SMA Europe and the European Alliance for SMA NBS is organizing an event on 25 November in Bucharest, Romania at the Crowne Plaza Hotel Bucharest.

The event’s purpose is to discuss newborn screening implementation in Romania at the national level, to understand how NBS is implemented in other countries, how NBS pilots operate in other countries, and what we need for SMA NBS to be implemented in Romania. Politicians, neurologists, and genetic doctors are all warmly invited to attend. SMACARE wants to show the politicians what needs to be done to implement NBS and why it is critically important to families living with SMA in Romania.


Newborn screening and early treatment save lives

Agenda 25 November 2022

09:30 – 10:00 Welcome, registration, and coffee

Session 1

10:00 – 10:10 Welcome from a Member of the European Parliament

10:10 – 10:20 Welcome from the Romanian Ministry of Health

10:20 – 10:40 What is SMA – Diagnosis, treatment, screening – Dr. Diana Epure, Spitalul Clinic De Copii Doctor Victor Gomoiu

10:40 – 11:00 Newborn screening for SMA: current status in Europe and the world – Kacper Rucinski, Delegate, SMA Europe, and Steering Committee Member, European Alliance for Newborn Screening in Spinal Muscular Atrophy

11:00 – 11:30 Coffee break

Session 2

11:30 – 11:50 Study of cost-effectiveness about NBS in Romania – Prof. Cornelis Boersma, PhD, and Simon van der Schans, University of Groningen

11:50 – 12:10 Newborn screening technical options – Mikael Hjort, PerkinElmer

12:10 – 12:30 Polish experience for NBS in SMA – Dr. Mariusz Ołtarzewski, Institute of Mother and Child, Warsaw

12.30 – 12:50 French pilot and SMA treatment experience – Dr. Andreea Seferian, Institut de Myologie, Paris

12.50 – 13:00 Q&A

13:00 – 14:00 Lunch

Session 3

14:00 – 14:20 Importance of the newborn screening – Dr. Laurent Servais, University of Oxford (video)

14:20 – 14:40 Challenges in Spinal Muscular Amyotrophy and neonatal screening – Dr. Niculina Butoianu, Spitalul Clinic de Psihiatrie “Profesor Doctor Alexandru Obregia”

14:40 – 15:00 Genetic centers update and needs – Dr. Maria Puiu

15:00 – 15:20 Experience of implementing NBS in Romania – Dr. Nanu, INSMC

15:20 – 15:40 First pilot program for NBS in Romania for SMA – Dr. Andrada Mirea, Centrum Nicolae Robanescu

15:40 – 16:00 Conclusions and next steps


Questions? Please contact:

Asociatia SMACARE

Str. Intrarea Dridu, Nr. 7, Sector 1, Bucuresti

E-mail: [email protected]

Phone: +40 724726803