Inspiration Awaits: Discover the programme and lineup of speakers for the SSIEM Adult Group Meeting Session

This session will take place on 3 September from 8:00 - 12:00 in the Laurel Room

This agenda below is subject to updates.

Session Agenda:

8:30 – 10:00: Impact of NGS on Adult Metabolic Medicine

08:30 – 08:35: Short introduction to the session

Robin Lachmann, UK

Short talks:

8.35 – 8.50 am (10+5): Example of carnitine transporter deficiency

Mirjam Langeveld, Netherlands

8.50 – 9.05 am (10+5): Example of X-linked adrenoleukodystrophy

Fanny Mochel, France

9.05 – 9.20 am (10+5): Example of OTC deficiency

Pasi Nevalainen, Finland

9.20-9.35 am (10+5): Example of Fabry disease

Kasper W. ter Horst, Netherlands

9.35 – 10.00 am (20+5): Impact of pre-conceptional NGS

Noelia Nunez Martinez, Australia

Open debate:

10.00 – 10.30: Moderation by Robin Lachmann, UK

Questions to address with the audience:

• How do you verify the relationship between the clinical symptoms and genetic variant?

• Is biochemically deficient the same as clinically relevant?

• How can we better involve adult metabolic specialists in the development of NBS programs?

10.30 – 11:00: Coffee break

11.00 – 12.00: When to perform NGS in adult patients with unclear presentation?  Examples of hyperammonemia

Moderator: Margreet Wagenmakers, Netherlands

Expert panel:

- Elaine Murphy, UK

- François Maillot, France

- Anna Lehman, Canada