INFORM 2023 Bringing the Latest in Fatty Acid Oxidation Disorders Research to Israel
10th gathering of the International Network for Fatty Acid Oxidation Research and Management, INFORM to showcase global advancements.
Global experts, practitioners and researchers in fatty acid oxidation disorders convened in Jerusalem, Israel, August 27th and 28th for the 10th Anniversary meeting of INFORM, the International Network for Fatty Acid Oxidation Research and Management. The yearly gathering is recognized as the premier international meeting on fatty acid oxidation disorders.
“INFORM was first envisioned more than a decade ago as a global event to encourage and foster collaboration by participating centers and practitioners, and to feature breakthrough research and best practices for treatment of fatty acid oxidation defects,” said Dr. Jerry Vockley, MD, PhD. INFORM’s founding co-chair and scientific organizer. “This year’s meeting in Israel exceeded all our promises to elevate our mission.”
The event preceded the Society for the Study of Inborn Errors of Metabolism (SSIEM); held August 29th – September 1st. Prof. Yair Anikster MD, PhD, the Director of the Metabolic Disease Unit at Edmond and Lily Safra Children’s Hospital and Chairman of the Israel Society for Metabolic Diseases, served as president of the SSIEM 2023 and invited INFORM to be the satellite meeting prior to this larger international conference.
INFORM presenters included many from the Vockley Lab in the Rangos Research Center at UPMC Childrens Hospital of Pittsburgh as well as Dr. Vockley was this year’s keynote speaker.
Jerry Vockley, MD, PhD, University of Pittsburgh, Cleveland Family Professor of Pediatric Research, Professor of Human Genetics, Chief of Medical Genetic and Genomic Medicine, Director of the Center for Rare Disease Therapy Children’s Hospital of Pittsburgh of UPMC, presentation was entitled,
“Gene therapy meets fatty acid oxidation disorders (finally!)”.
Israeli presenters included Dr. Shlomo Almashanu, the head of the Israeli national newborn screening program, who spoke on: “Unique MCAD exon 8 duplication with a founder effect among Northern African Jews” and Dr. Orna Staretch-Chacham, who will report on “Fatty acid oxidation disorders in Israel”.
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.
Now, more than a decade later, INFORM provides a platform for collaborating centers both nationally and internationally to interact face-to-face, present state of the art research, and share best practices for treatment of fatty acid oxidation defects. This year, the steering committee of international experts on fatty acid oxidation disorders planned the agenda, from evaluating abstracts to vetting potential speakers. The resulting broad-based program bridged clinical and research issues, and typically includes patients and patients advocates.
The inaugural INFORM event was held in 2014 in Innsbruck, Austria. Subsequent meetings have been held in Lyons, France; Boston, Massachusetts; Rio De Janeiro Brazil; Athens, Greece, Amsterdam, The Netherlands; and Freiburg,Germany, and two virtual meetings due to COVID.
Funding to support the program continues to be provided by industry sponsorships and unrestricted educational grants as well as individual donors. This year’s donors included American Gene Technologies; Arcturus Therapeutics; CoA a BioBridge Company; Homology Medicines; Kriya; Moderna; Nestle Health Science; PTC Therapeutics; Reneo; Revvity; Solace Nutrition; Ultragenyx Pharmaceuticals; and Vitaflo. INFORM partners include MitoAction and UPMC/Children’s Hospital of Pittsburgh. All funds are collected and managed by the Children’s Hospital of Pittsburgh Foundation.
“This meeting showcases the role that the Center for Rare Disease Therapy at the UPMC Children’s Hospital of Pittsburgh plays in training national and international clinicians and its reputation as a destination for the development and pursuit of clinical trials for novel therapeutics for these disorders”, said Dr. Vockley.
Future events are scheduled for Porto, Portugal, in 2024, Japan in 2025 during the ICIEM, Helsinki, Finland, in 2026 and Dublin, Ireland in 2027.
INFORM is committed to discovering new FAOD treatments and cures to improve the lives of patients and their families. Learn more at https://informnetwork.org/
Past and present members of the INFORM Scientific and Organizing Committee:
Jerry Vockley, MD, PhD Co-Chairman University of Pittsburgh School of Medicine
Ute Spiekerköetter, MD Co-Chairman Department of Pediatrics and Adolescent Medicine, University Children’s Hospital, Freiburg
Dr. Nicola Longo, M.D. Ph.D., University of Utah, Division of Medical Genetics
Michael Bennett, PhD Michael J. Palmieri Metabolic Laboratory, University of Pennsylvania School of Medicine
*Jean Bastin, PhD INSERM-University Hôpital Necker-Enfants Malades
*Niels Gregersen, PhD Research Unit for Molecular medicine, MMF Aarhus University Hospital, Skejby Brendstrupgaardsvej
Daniela Karall, MD Department for Child and Adolescent Medicine, Medical University of Innsbruck
Melanie Gillingham, PhD, RD Molecular and Medical Genetics Department, Oregon Health & Science University
Rikke Katrine Jentoft Olsen, MSc, PhD, Associate Professor Research Unit for Molecular Medicine, Aarhus, Denmark
Dr. Kimihiko Oishi, M.D., Chair and Professor of the Department of Pediatrics at the Jikei University School of Medicine, Tokyo, Japan, and Vice Chair of the Japanese Society for Inherited Metabolic Diseases
Keith McIntire, INFORM Program Manager
*Past Committee Members
2023 INFORM Highlights
Keynote speaker at INFORM Dr. Jerry Vockley
His Lecture was on: “Gene therapy meets fatty acid oxidation disorders (finally!)”.
Link to Jerry’s Keynote speech: ארטרא שרית – כנס ברמדה – Google Drive
Jerry also presented at the SSIEM
Dr. Georgianne Arnold presented at the INFORM meeting
Her lecture was on: “New therapies for MCADD / C7 (Dojolvi)”
Dr. Jerry Bedoyan presented at the INFORM Meeting
His Lecture was on: “Sodium Phenylbutyrate as Therapeutics”
Eduardo Vieira Neto, MD, PhD from the Vockley Lab presented at INFORM and the SSIEM
INFORM and SSIEM Presentation: “Elamipretide restores mitochondrial function in trifunctional protein deficiency mice and human fibroblasts”
His 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 presented at INFORM
Her lecture was on: “Lysine hyposuccinylation in human MCAD deficient fibroblast cells alleviated with heptanoic and medium branched-chain fatty acids and in Acadm-/- mice with triheptanoin”
She also received top poster awards at INFORM and the SSIEM
(pictured to the right)
Keaton Solo
Keaton completed his undergraduate studies in Biochemistry at Virginia Tech before moving to Pittsburgh and joining Dr. Jerry Vockleys lab as a technician.
He presented at both INFORM and the SSIEM
His Lecture was on: “Medium-chain acylcarnitines target muscular phenotypes in long-chain fatty acid oxidation Disorders”
Shakuntala Basu, MSc, PhD
Received a top INFORM Poster award: A Novel Muscle VLCAD/LCAD Double Knock Out Mouse Model
Explores VLCAD Deficiency Induced Skeletal Muscle Myopathy and Its Therapies
Abbe N. de Vallejo, PhD was an Invited guest Lecturer at INFORM
His Lecture was on: “Immunology and FAODs”
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