It's just over one month until we all get to meet up in Porto. If you haven't already been looking at the programme, be sure to check it out below.
The programme for the Adult IMD Morning looks incredible, and I know that Fanny Mochel thinks that the adults might just have something to teach their paediatric colleagues! #seeyouinPorto
8.30 – 10.30 am: Impact of NGS on Adult Metabolic Medicine
Short talks:
Example of carnitine transporter deficiency: Mirjam Langeveld, Netherlands
Example of X-linked adrenoleukodystrophy: Fanny Mochel, France
Example of OTC deficiency, Pasi Nevalainen, Finland
Example of Fabry disease, Kasper ter Horst, Netherlands
Impact of pre-conceptional NGS: Noelia Martínez Núñez, Australia
Open debate:
Moderation by Fanny Mochel (France) G Mirjam Langeveld (Netherlands)
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?
11.00 am – 12.00 pm:
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
#raredisease #sciencecommunication #adultIMD
⏳ Time is flying - less than a month left to enjoy, learn, and grow with top researchers and peers at the #SSIEM2024!
Check out the full programme 🔗 https://lnkd.in/dhkRiU5b
#ExploringNewHorizons #Porto
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2moBonjour, Bravo à Stephan Français et son équipe Thomson Metavisio aussi je vous souhaite le meilleur pour le salon . Mr CAUBET Jean-Jacques