Pitt Pediatrics Genetic And Genomic Medicine Team Present At INFORM Conference

At the end of August of this year, international global experts, practitioners, and researchers in the fatty acid oxidation disorders convened for the 10th anniversary of the International Network for Fatty Acid Oxidation Research and Management (INFORM). Recognized as the premier international meeting on fatty acid oxidation disorders, INFORM is an annual gathering created to encourage and foster collaboration among participating centers and practitioners, as well as to feature breakthrough research and best practices. 

Jerry Vockley, MD, PhD, FACMG, our Director of the Division of Genetic and Genomic Medicine in the Department of Pediatrics, is INFORM’s founding co-chair and scientific organizer, and noted that “this year’s meeting in Israel exceeded all our promises to elevate our mission.”

INFORM began more than a decade ago as part of a National Institutes of Health grant application to establish a Rare Disease Research Network on fatty acid oxidation disorders. While the application was ultimately unsuccessful, a suggestion from one reviewer to begin demonstrating the ability to work together led the founders to seek funding to meet the goals of INFORM through industry sponsorships and unrestricted educational grants.

In addition to his leadership roles with INFORM, Vockley participated as this year’s keynote speaker, while his research lab had an overwhelming presence at the meeting with its members’ oral presentations, posters, and awards.

Below is a full list of the wonderful presentations, posters, and talks from University of Pittsburgh faculty at the INFORM conference: 

Jerry Vockley, M.D., Ph.D.
University of Pittsburgh
Cleveland Family Endowed Chair in Pediatric Research
Professor of Human Genetics 

INFORM Keynote Address: “Gene therapy meets fatty acid oxidation disorders (finally!)
SSIEM Presentations:  “Consistent long-term clinical benefit with govorestat treatment: results of the ACTION - Galactosemia Kids trials”  &  “A new mouse model for VLCAD Deficiency and first report of VLCAD gene therapy

Abbe N. de Vallejo, PhD
Tenured Associate Professor, University of Pittsburgh
Department of Pediatrics, School of Medicine
Department of Immunology, School of Medicine
Division of Rheumatology, UPMC Children’s Hospital of Pittsburgh
Director, Flow Cytometry Facility, John G Rangos Sr Research Center
Associate Editor, Frontiers in Immunology
Editorial Board, Aging and Disease
Fellow, The Royal Society of Medicine

INFORM Presentation: “Immunology and FAODs

Georgianne Arnold, MD
Professor of Pediatrics
Director, Medical Genetics Clinical Research, 
Department of Pediatrics
UPMC Children’s Hospital of Pittsburgh

INFORM Presentation: “New therapies for MCADD / C7 (Dojolvi)

Jirair K. Bedoyan, MD, PhD, FACMG
Clinical and Biochemical Geneticist
Associate Professor of Pediatrics
Program Director, Clinical Biochemical Genetics Fellowship
University of Pittsburgh Institutional Review Board (IRB) Member
United Mitochondrial Disease Foundation (UMDF) Scientific and Medical Advisory Board (SMAB) Member

INFORM Presentation: “Sodium Phenylbutyrate as Therapeutics

Eduardo Vieira Neto, MD, PhD
Post-Doctoral Fellow
University of Pittsburgh
Genetic and Genomic Medicine Division | Department of Pediatrics
UPMC Children's Hospital of Pittsburgh

INFORM and SSIEM Presentation:  “Elamipretide restores mitochondrial function in trifunctional protein deficiency mice and human fibroblasts”
2nd Presentation at INFORM: “Comprehensive multi-parametric cardiac MRI (CMR) in mice with a mutation in the mitochondrial trifunctional protein β-subunit – a model of cardiac fibrosis”

Anuradha Karunanidhi, MS
Senior Lab Manager | Research V
Division of Genetic and Genomic Medicine
Department of Pediatrics
University of Pittsburgh
UPMC Children's Hospital of Pittsburgh

INFORM Presentation:  “Lysine hyposuccinylation in human MCAD deficient fibroblast cells alleviated with heptanoic and medium branched-chain fatty acids and in Acadm-/- mice with triheptanoin

Keaton Solo
Department of Human Genetics 
Graduate School of Public Health 
University of Pittsburgh

INFORM and SSIEM Presentation: “Medium-chain acylcarnitines target muscular phenotypes in long-chain fatty acid oxidation Disorders” 

For more information on advances and research efforts in our Division of Genetic and Genomic Medicine, follow Pitt Pediatrics on Twitter