Adrianus J. Bakermans
Cardiac magnetic resonance imaging and spectroscopy in patients with long-chain fatty acid β-oxidation deficiency 

Joel Mroczkowski 
The Role of Inflammation in Long Chain FAODs

INFORM 2018 Agenda

UPMC Children’s Hospital of Pittsburgh - Medical Genetics - One Children's Hospital Drive
Faculty Pavilion 1st Floor - 4401 Penn Avenue - Pittsburgh, PA 15224
​Office:  412.692.5099
 Keith McIntire -  Coordinator, INFORM - mailto:keith.mcintire@chp.edu​

​​​

Jeannette Bleeker

Metabolomics profiling in dried blood spots differentiates clinical phenotypes in VLCADD

Oleg Varlamov
Altered fiber type distribution, reduced lipid transport, and decreased carnitine concentrations in skeletal muscle of subjects with fatty acid oxidation disorders

Suzan J.G. Knottnerus​
Reduction of Acylcarnitines Restores Electrophysiological Abnormalities in VLCAD Deficient hiPSC- Cardiomyocytes  

Manuel Schiff
Riboflavin-Responsive Disorders 

International Network for Fatty Acid Oxidation Research and Management

Al-Walid Mohsen
Structural Insights
into Drug Therapy ​of FAODs

Yudong Wang 
Characterizing the Molecular Architecture of Mitochondrial Energy Metabolism

Hiroshi Kido
The Interplay Between Inflammation
​and FAOD in the Pathogenesis of Infection Associated Encephalopathy  

Frances Rohr
GMDI/SERN VLCAD Nutrition Guidelines 

   Poster Submitted by: Zeinab Wehbe 
   Presented by: Sara Tucci (pictured)
   Sex specific metabolic phenotype in very-long      chain acyl-CoA hydrogenase deficient            VLCAD-/-) mice

Keynote: Jung-Ja Kim
The Structural Biology of FAO

Eric Goetzman
Mitochondrial H2O2 Generation Via the Acyl-CoA Dehydrogenases  

INFORM 2018 Presenters

Zahra Nochi
A novel loss of function FLAD1 variant, causing riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD)

​​​​​​​​​​​INFORM 2019 September 1st & 2nd in Amsterdam!

INFORM Abstracts see our 2018 program 

Travel Grant Awardees 2018 
Yudong Wang - Characterizing the Molecular Architecture of Mitochondrial Energy Metabolism 

Oleg Varlamov - Altered fiber type distribution, reduced lipid transport, and decreased carnitine concentrations in skeletal muscle of subjects with fatty acid oxidation disorders

Suzan J.G. Knottnerus - Reduction of acylcarnitines restores electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes 

Ermal Aliu – Restoration of VLCAD in Knockout Mice and Deficient Human Fibroblasts using Novel mRNA Technology: A Model to Treat Fatty Acid β-Oxidation Disorders 

Paschalis-Thomas Doulias - Novel therapeutics for fatty acid oxidation disorders 

Suzan Knottnerus - Metabolomics profiling in dried blood spots differentiates clinical phenotypes in VLCADD 

Yuxun Zhang - Mitochondrial H2O2 Generation Via the Acyl-CoA Dehydrogenases


​Honorable Mention Abstracts for Poster Presentation 

Zahra Nochi - A novel loss of function FLAD1 variant, causing riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD)


Zeinab Wehbe - Sex specific metabolic phenotype in very-long chain acyl-CoA dehydrogenase deficient (VLCAD-/-) mice 


Adrianus J. Bakermans - Cardiac magnetic resonance imaging and spectroscopy in patients with long-chain fatty acid β-oxidation deficiency 

Abstracts for INFORM 2019 will be accepted starting in January of 2019 for judging and consideration for a Travel Grant.

Michael Wolfgang
​Tissue Specific Roles of Fatty Acid Oxidation

Martin Lund
Activation and Alleviation of Cellular Stress Responses in FAODisorders

Poster Awards

Guilhian Leipnitz 
Cellular Models of Bioenergetics Defects 

Ermal Aliu
Restoration of VLCAD in Knockout Mice
and  Deficient Human Fibroblasts using Novel mRNA Technology: A Model to Treat Fatty Acid
​β- Oxidation Disorders

Paschalis-Thomas Doulias
Novel therapeutics for fatty acid oxidation disorders