Wednesday 22 June
An introduction to IMD
Workshops – Laboratory testing (1)
14:00 - 17:00
Session 1: An Introduction to IMD
1)
Archibald Garrod – starting at the beginning
Robin Lachmann
2)
Metabolites – too much, too little - Organellar dysfunction storage
Simon Heales, Shamima Rahman, Katie Harvey
3)
Treatment strategies
Robin Lachmann
4)
Lifetime disease – how aging affects IMDs
Simon Heales, Elaine Murphy
17:30 - 19:00
Session 2: Workshops – Laboratory testing (1) (Two of each of these – 45 mins each)
1)
Amino acids/Organic acids
Rachel Carling, Helen Prunty
2)
Acylcarnitines/VLCFAs
Amanda Lam, Andrew Morris
3)
Enzymology
Derek Burke, Ralph Wigley, Simon Heales
4)
Genetic diagnosis
Shamima Rahman
Thursday 23 June
Workshops - Laboratory testing (part 2)
The first treatable genetic disease
Acute metabolic encephalopathy
Hypoglycaemia
09:00 - 10:30
Session 2: Workshops – Laboratory testing (2) (Two of each of these – 45 mins each)
1)
Amino acids/Organic acids
Rachel Carling, Helen Prunty
2)
Acylcarnitines/VLCFAs
Amanda Lam, Andrew Morris
3)
Enzymology
Derek Burke, Ralph Wigley, Simon Heales
4)
Genetic diagnosis
Shamima Rahman
11:00 - 13:00
Session 3: The first treatable genetic disease
1)
Case presentation – A positive newborn screening result (PKU)
Maureen Cleary
2)
Introduction to tandem MS
Helen Prunty
3)
General NBS talk
Anupam Chakrapani
4)
Dietary treatment of aminoacidopathies / tasting session
Rachel Skeath
5)
Long-term outcomes and pregnancy
Robin Lachmann
6)
New treatment strategies
Maureen Cleary
7)
Patient experience
patient/family
13:00 - 14:00
Lunch
14:00 - 15:30
Session 4: Acute metabolic encephalopathy
1)
Case – Neonatal encephalopathy & differential
James Davison, Lucinda Carr
2)
Case – Encephalopathy in adults & differential
Elaine Murphy, Robin Lachmann
16:00 - 17:30
Session 5: Hypoglycaemia
1)
Case – Ketotic hypoglycaemia & differential
Andrew Morris, Helen Prunty
2)
Case – Hypoketotic hypoglycaemia & differential
Stephanie Grünewald, Helen Prunty
Friday 24th June
Workshops - Neurometabolic presentations
Workshops - Chronic presentations 1
Workshops - Chronic presentations 2
09:00 - 11:15
Session 6: Neurometabolic presentations - workshops (45 mins each)
1)
Floppy infant
Jane Hassell, Preeya Rehsi
2)
CSF analysis
Manju Kurian, Simon Heales
3)
Muscle presentations
11:45 - 15:00
Session 7: Chronic presentations 1 – workshops (45 mins each)
Mark Roberts
1)
Developmental delay
Apostolos Papandreou, Helen Prunty
2)
Hepatosplenomegaly
James Davison, Anupam Chakrapani, Katie Harvey
3)
Dysmorphology
Stephanie Grünewald, Ali Calder
12:30 - 13:30
Lunch
15:30 - 17:45
Session 8: Chronic presentations 2 – workshops (45 mins each)
1)
Cardiomyopathy
Juan Kaski
2)
Thrombosis and stroke
Elaine Murphy, Shamima Rahman, Helen Aitkenhead
3)
Psychiatric / behavioural
Olivier Bonnot
Saturday 25 June
Hepatic presentations
...and now you are an expert...
09:00 - 11:15
Session 9: Hepatic presentations
1)
Case – acute paediatric liver disease
Roshni Vara, Helen Aitkenhead
2)
Case – cirrhosis
Aileen Marshall, Helen Aitkenhead
3)
Liver transplantation for IMDs
Aileen Marshall, Roshni Vara
11:30 - 13:00
Session 10: …and now you are an expert…
1)
Challenging cases
James Davison (and all faculty)