martedì 6 settembre 2016 - venerdì, 9 settembre 2016
Tuesday 6th September
P. Clayton, UK; C. Vianey-Saban, France
14:30 – 15:00 OPENING LECTURE
“Quo Vadis”, redefinition of inborn metabolic diseases, a challenge for the future
E. Morava, USA
15:00 – 16:30 PLENARY SESSION 1
“Omics, neonatal screening and beyond”
Untargeted metabolomics in Inborn errors of metabolism
B.Barshop, USA
Lipidomics and innate immunity
B. Snijder, CH
New frontiers of neonatal screening
P. Rinaldo, USA
17:00 – 18:30 PLENARY SESSION 2
R. Wanders, The Netherlands; M. Ruoppolo, Italy
“Cellular signaling”
Defective cellular signaling in mevalonate kinase deficiency
H. Waterham, The Netherlands
Role of NO in urea cycle defects
B. Lee, USA
miRNA signaling in human diseases and in inborn errors of metabolism
L.R. Desviat, Spain
Wednesday 7th September
10:30 – 12:00 PLENARY SESSION 3
A. Ribes, Spain; G. Parenti, Italy
“Therapeutical chaperon molecules and beyond”
New technologies to find new active molecules
F. Emma, Italy
Cysteamine: a new scenario for an old molecule
H. Blom, Germany
Small molecules and clinical trials in inborn errors of metabolism
A. C. Muntau, Germany
16:15 – 17:45 PLENARY SESSION 4
M. Baumgartner, CH; L. D’Antiga, Italy
“Liver directed therapies in IEM”
Liver transplantation
P. Mc Kiernan, UK
Gene therapy
J. Baruteau, UK
Treatment of molybdenum cofactor deficiency
G. Schwarz, Germany
17:45 – 18:00
European Reference Network Action: MetabERN
M.Scarpa, Germany / Italy
Thursday 8th September
08:30 – 10:00 PLENARY SESSION 5
M. Schiff, France; A. Burlina, Italy
“Clinical novelties”
Inherited disorders of metal metabolism
P. Clayton, UK
Hyperinsulinisms
A. Maiorana, Italy
New therapeutical challenges in lysosomal storage disorders
V. Valayannopoulos, France
Friday 9th September
09:00 – 10:30 PLENARY SESSION 6
R. Wevers, The Netherlands; N. Brunetti Pierri, Italy
“Cellular trafficking”
Disorders of intracellular trafficking
M.A. De Matteis, Italy
Autophagy, inborn errors of metabolism and human diseases
H. Jungbluth, UK
Autophagy and mitochondrial disorders
M. Sandri, Italy
11:00 – 11:45 Komrower lecture
G. Salomons, The Netherlands; C. Dionisi – Vici, Italy
“Mitochondrial Disorders, a journey through the magic circle and beyond”
M. Zeviani, UK
11:45 – 12:45 Late Breaking News
LBN-01 Biallelic mutations in IARS, encoding cytosolic isoleucyl-tRNA synthetase, cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy
C. Staufner, Germany
LBN-02 CAD Mutations and Uridine-Responsive Epileptic Encephalopathy
S. Wortmann, Austria
LBN-03 TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy
A. Sferra, Italy
LBN-04 MAP17 is necessary for transport activity of SGLT2: a novel cause of renal glucosuria
R. Santer, Germany
13:30 – 14:00 Garrod Award lecture
G. Salomons, The Netherlands; R. Giugliani, Brazil
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease
S. Rahman, UK
SSIEM Awards
ICIEM 2017
SSIEM 2018
14:00 – 14:30 Closing remarks
P. Clayton, UK; M. Scarpa, Germany/Italy
14:30 – 15:00 Question time MetabERN
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