PROGRAM

 

aula

 

Accreditation for this meeting is being requested at the Dutch Society for Clinical Chemistry (NVKC),
The Dutch Society for Human Genetics (NVHG) and the Dutch Society of Pediatrics (NVK).
   
     

 

 

Thursday 19 juni 2014

   
     
     
Thesis defenses (Aula)
 
     
9.45 uur:  
Thesis defense 1  
  Creatine Transporter Deficiency. How to get from A to CTG  
  Ofir T.  Betsalel  
   
11.15-11.45 uur: 
Coffee/Tea  
   
11.45 uur:
Thesis defense 2  
  Clinical, molecular and functional approaches to the understanding of  
  creatine deficiency syndromes  
  Joe Ndika  
     
13.15-14.30 uur:
Lunch and Registration  
     
     
 

Start symposium: Update on neurometabolic disorders (Auditorium)

14.25 uur: Opening Symposium  
  Herman ten Brink, VUmc Amsterdam  
     
14.30-16.35 uur:
I. Creatine metabolism and transport    
  Chairs:  
  Ligia Almeida, INSA, Porto, Portugal  
  Jaume Campistol, Hospital Sant Jouan de Deu, Barcelona, Spain  
     
14.30 uur:
Creatine and guanidinoacetate transport at BBB and inter and intracellular  
compartments  
Dr Olivier Braissant, University Hospital Lausanne, Lausanne, Switzerland  
     
14.55 uur: What can we learn from MR spectroscopy of creatine deficient mice?  
  Prof Arend Heerschap, Radboud University Medical Center, Nijmegen  
     
15.20 uur:
GAMT deficiency: new insights for the treatment recommendations and prevalence  
Dr Saadet Mahmutoglu, M.D., Sickkids, Toronto, Canada  
   
15.45 uur:
Creatine transporter deficiency: natural history and new insights to neuropathogenesis  
Dr Jiddeke van de Kamp, M.D., VU University Medical Center, Amsterdam  
   
16.10 uur:
Studies of Creatine Transporter Deficiency at the NIH  
  Nuria Carrillo, M.D., National Institutes of Health, Bethesda, MD, USA  
     
16.35-17.10 uur: 
Coffee/Tea  
     
  II : Pyridoxine dependent epilepsy   
  Chairs:  
  Tom de Koning,  UMCG, Groningen  
  Katrin Ounap, Tartu University Hospital, Estonia  
     
17.10 uur:  
Progress in inborn errors of vitamin B6 metabolism  
Prof Peter Clayton, MD, UCL Institute of Child Health, London, UK  
   
17.35 uur:  
Novel insights in L-lysine pathway and diagnostic schemes  
Dr Eduard Struys, VU University Medical Center, Amsterdam  
   
17.55 uur:  
Mild case of antiquitin deficiency  
  Prof Bwee Tien Poll-The, MD, AMC, Amsterdam  
     
18.30-22.30 uur:  
Get together/ networking event  (The Basket)  
     
     
     

 

 

Friday 20 juni 2014

     
     
     
Update on neurometabolic disorders and its link with cancer (Auditorium)
 
     
8.00 – 8.45 uur:  
Coffee/Tea  
     
8.45 – 10.50 uur: 
III: Inborn metabolic disorders:  outcome of new technologies  
  Chairs:  
  Nanda Verhoeven, UMCU, Utrecht  
  Erik Sistermans, VUmc, Amsterdam  
     
8.45 uur:  
Exome sequencing requires expert knowledge on metabolism to be successful for IEMs  
  Prof Ronald Wanders, AMC, Amsterdam  
     
9.10 uur:   New CDG phenotypes and diagnostics for the next generation  
  Prof Eva Morava, M.D., Tulane University, LA, USA  
     
9.35 uur:   Neurodevelopmental disorders and identification of novel genes by next generation sequencing  
  Prof Charles Schwartz, JC Self Research Institute, Greenwood, NC, USA  
     
10.00 uur:   Inherited white matter disorders caused by tRNA synthetase deficiencies:   We start with the A…  
  Prof Marjo van der Knaap, M.D., VU University Medical Center, Amsterdam  
     
10.25 uur:  
and will end, for now, with the R
 
  Dr Nicole Wolf, MD, VU University Medical Center, Amsterdam  
     
     
10.50 – 11.20 uur:  
Coffee/Tea  
     
     
11.20 – 12.15 uur: 
IV: Inborn errors of TCA cycle intermediates  
  Chairs:  
  Cornelis Jakobs, VUmc, Amsterdam  
  Zual Yapici, Istanbul University, Istanbul, Turkey  
     
11.20 uur: 
Progress in understanding D-2- , L-2- and the combined D-2,L-2 hydroxyglutaric acidurias  
Dr Eduard Struys, VU University Medical Center, Amsterdam  
   
11.45 uur: 
Enzymes involved in intermediary metabolism and their repair function  
Prof Emile van Schaftingen, KU Leuven, Leuven, Belgium  
     
     
12.15 – 13.15 uur:  
Lunch  
   
  V: The TCA cycle and cancer  
  Chairs:  
  Kristien Tytgat, AMC, Amsterdam  
  Rien Blankenstein, VUmc, Amsterdam  
     
13.15 uur: 
IDH mutations in cartilaginous tumours and tumour syndromes  
Prof Judith Bovee, LUMC, Leiden  
   
13.40 uur: 
Something fishy about IDH1   
Dr Pim French, Erasmus MC,  Rotterdam, the Netherlands  
   
14.05 uur: 
Cancer and D2HGA:  a crossroad of IDH dysregulated metabolism  
Dr Lenny Dang, Agios, Cambridge, MA, USA  
   
14.30 uur: 
Mitochondrial dysfunctions and cancer  
  Dr Christian Frezza, MRC Cancer Unit, UK  
     
15.00 uur: Closure  
  Herman ten Brink, VUmc Amsterdam  
     
15.00 – 15.45 uur: 
Coffee/Tea  
     
     
15.45 uur: 
Inaugural lecture Prof Gajja Salomons (Aula)  
   
16.30 uur: 
Reception (foyer)