We would like to congratulate all of the speakers who have been selected to present during the INFORM Lecture Series.
If you would like to be added to the lecture series mailing list, please send an email to Keith McIntire the INFORM Coordinator: firstname.lastname@example.org
All lectures are presented over ZOOM starting at 10:00AM – 11:00AM Eastern Standard Time USA
January 23, 2023
Christoff Odendaal, MSc
Personalized computational modelling of mitochondrial β-oxidation using MCADD patient proteomics can help stratify risk
Christoff Odendaal is currently finishing his PhD at the University of Groningen in the Netherlands with the topic “Instability of glucose production
in fatty-acid oxidation defects.” He started off in systems biology in Stellenbosch, South Africa, looking at glycolysis in the malaria parasite and Baker’s yeast.
In both his master’s and his PhD, his work was both experimental and computational, aiming to bridge the gap between the dry and the wet labs.
Correlation of genotype and molecular phenotype in mitochondrial trifunctional protein deficiency
Eduardo Vieira Neto graduated in Medicine at the College of Medical Sciences of the State University of Rio de Janeiro – UERJ, Brazil, in 1980. At the beginning of his career, he had the opportunity to do research at “Instituto Oswaldo Cruz”, a renowned institution in the field of Tropical Medicine and Infectious Diseases. Later, he received extensive training in medical genetics and inborn errors of metabolism at Martagão Gesteira Institute of Childcare and Pediatrics, Federal University of Rio de Janeiro – UFRJ, Brazil (2004-2005). During his Master of Sciences at the College of Medicine of UFRJ (2006-2008), he acquired skills related to electrospray ionization tandem mass spectrometry (ESI-MS/MS), especially its application for newborn screening. Eduardo obtained his PhD degree at the same institution in 2018. He received public grants from Coordination for the Improvement of Higher-Level Personnel (Capes) of the Ministry of Education, Brazil. Part of his PhD studies were conducted at Dr. Jacinto Magalhães Medical Genetics Center, University of Porto Hospital Center, Portugal, within the framework of the interuniversity exchange doctorate program promoted by Capes, Ministry of Education, Brazil. In 2020, he joined as a postdoctoral associate Dr. Jerry Vockley’s lab at the Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, University of Pittsburgh, U.S.
February 20, 2023
Bianca Seminotti, MSc, PhD
Restoring succinyllysine antigenic signal and improving O2 consumption of CPT II deficient cells treated with anaplerotic compounds
Bianca Seminotti has a BS in Biomedicine from the Federal University of Rio Grande do Sul and a master’s degree as well as her PhD in Biochemistry from the Post-Graduation Program in Biological Sciences: Biochemistry of the same university. After finishing her PhD, she developed research projects focusing on inborn errors of metabolism at the same university as a Junior Postdoctoral Fellow . She also worked as a Postdoctoral Fellow at the Pediatrics Department at Children’s Hospital, University of Pittsburgh. Bianca has experience in Biochemistry, Genetics, Neuroscience and Molecular Biology, with emphasis on Inborn Errors of Metabolism. In addition to the research activity, she has a great interest in teaching, having developed such activities as a substitute professor of Biochemistry at he Federal University of Santa Catarina and at the Federal University of Health Sciences of Porto Alegre. She also worked as a collaborating professor in Biochemistry courses at the undergraduate and graduate levels at Federal University of Rio Grande do Sul . Dr. Seminotti is currently working as a Research Scientist in Dr. Jerry Vockley’s lab at the Pediatrics Department, Children’s Hospital, University of Pittsburgh.
Synthetic Messenger RNA Rescues Very Long-Chain Acyl-A Dehydrogenase Deficiency in a Murine Model
Dr. Zhao is a research scientist in the Department of Pediatrics, Division of Genetic and Genomic Medicine. He received his MD at Hunan Medical University in China. He then worked at National Training Center of Clinical Pharmacology at the same University and earned his MSc before moved to Tokyo, Japan as a research fellow at Department of Clinical Pharmacology, International Medical Center of Japan. In 1998, he received the Merck Sharp & Dohme International Fellowship in Clinical Pharmacology and worked at Indiana University. He joined Children’s Hospital of Pittsburgh in 2003. His current research focus on the treatment of very long-chain acyl-CoA dehydrogenase deficiency by VLCAD mRNA and AAV in patient fibroblasts and a murine model.
April 17, 2023
Marit Schwantje, MSc
Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands
Marit Schwantje is a PhD student at the University of Utrecht. She studied Medicine at the University of Utrecht. and completed her first scientific research project in the department of metabolic diseases in the UMC Utrecht, under the supervision of Dr. Sabine Fuchs. This project resulted in the publication of the article ‘Glucose transporter type 1 deficiency syndrome and the ketogenic diet’ in JIMD (2020). This first experience with inherited metabolic diseases raised her interest in this fascinating group of diseases, and she continued her research at the department. Marit’s second publication during her study was on: ‘Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency’ (JIMD, 2019). After finishing her master’s in Medicine, Marit gained some field experience by working as a medical resident at the department for internal medicine at Hospital Gelderse Vallei, in Ede. To expand her scientific experience and knowledge regarding inherited metabolic diseases, she came back to the department of metabolic diseases in the UMC Utrecht to start a PhD trajectory. Her research focuses on long-chain fatty acid oxidation disorders and comprises both clinical and laboratory studies. With these studies, we would like to increase insights in the clinical disease course of lcFAOD, provide a framework to test future therapies and to improve and personalize patient advice.
Impaired cytokine production upon LPS stimulation in long-chain fatty acid oxidation disorders
Dr. Signe Mosegaard obtained her PhD in 2022 from the laboratory of associate professor Rikke K. J. Olsen and Professor Niels Gregersen, where she studied novel molecular and genetic insights to fatty acid oxidation disorders. Signe has focused her work mainly around two long chain fatty acid disorders: Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) and Multiple Acyl-CoA Dehydrogenation Deficiency (MADD). After finishing her PhD Signe continued as a postdoctoral researcher focusing on long-chain fatty acid oxidation disorders in the group of professor Riekelt H. Houtkooper, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam, the Netherlands. Her current research projects are focusing on developing alternative disease models for VLCADD using induced pluripotent stem cells (iPSC).
May 15, 2023
Ligia Akemi Kiyuna, MSc
Tissue-specific characterization of deoxy-glucose and palmitoyl-carnitine uptake in medium- chain acyl-CoA dehydrogenase-Deficient (MCAD -/-) mouse under fasting and cold challenge
Ligia Kiyuna is a fourth-year PhD candidate at the University of Groningen in the Netherlands, supervised by Professor Barbara M. Bakker. Her current research project is focused on understanding the onset of hypoglycemia in medium-chain acyl-CoA deficiency (MCADD) from both a biochemical and systemic perspective. During her master’s in Brazil, she studied the effects of oxidative stress on micro-RNA biosynthesis in heart failure.
Upregulation of glycogen cycling with a triheptanoin diet replenishes glycogen stores in very long chain acyl-CoA dehydrogenase deficient mice (VLCAD-/-)
Siti Nurjanah is a PhD student at Laboratory Metabolic Disease, University of Freiburg, Germany under Prof. Ute Spiekerkoetter supervision. She is one of the PhD members at PoLiMeR-project, an EU-funded Marie Skłodowska-Curie Innovative Training Network (ITN) program. Her PhD research mainly focused on the effect of dietary treatment in very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Before starting her PhD, she work as an Animal Nutritionist in a multinational animal-nutrition company based in Indonesia. She got full scholarship from Ministry of Religious Affair of Indonesia (2009-2014) for her bachelor’s degree at Bogor Agricultural University, Indonesia. In fourth year of her bachelor’s degree, she was selected as a student-exchange for Junior Year Program in English (JYPE) at Tohoku University, Japan with Japan Student Service Organization (JASSO) scholarship. After graduated from Bogor Agricultural University, she came back to Tohoku University to pursue her master’s degree with full scholarship from Ministry of Education Culture Sport Science and Technology (MEXT), Japan (2014-2017).
June 19, 2023
Dr. Melanie Gillingham PhD, RD
Data on energy balance and calculating total energy needs in subjects with FAODs using the C7 data
Melanie is an associate professor in Molecular and Medical Genetics at Oregon Health & Science University in Portland, Oregon. As a metabolic dietitian, she has been investigating nutrition interventions in patients with fatty acid oxidation disorders for 25 years. Dr. Gillingham and her colleagues have studied the role of dietary protein in energy balance and metabolic control, MCT prior to exercise for exercise tolerance and triheptanoin compared to MCT on clinical outcomes in FAODs. Today she will be looking at energy balance and estimating energy expenditure in patients with LC-FAODs.
Eliza Kruger, MHEcon
Results from the Odyssey study: complexity of long-chain fatty acid oxidation disorder (LC-FAOD) management and patient-reported outcomes in real-world clinical practice in the USA
Eliza is a trained health economist and market access expert with global experience. Originally from Australia, where she completed her Bachelor of Economics and Master of Health Economics, she began her career in Singapore in 2011 – first in Academia and then in healthcare consulting in the APAC region. For the last 6+ years she has lived in San Francisco and since 2019 has worked at Ultragenyx, a biotechnology company dedicated to providing treatment for rare disease patients with high unmet need. In her role as Senior Director, Global Health Economics & Outcomes Research (HEOR)at Ultragenyx, Eliza responsible for developing and executing global HEOR strategy across several pre-clinical rare disease programs.
Burden of health care system navigation on people living with LC-FAOD and their care team
Eileen Sullivan Baker
Eileen’s volunteer efforts focus on providing better support and treatment for patients with fatty acid oxidation disorders. She became interested in advocating for patients and families with those disorders upon her son’s diagnosis at age 14, after many years of visits to specialists and multiple hospitalizations. She continues as an initial member of the Patient Leadership Council since its inception in 2016, where members work to provide better education and information to the Fatty Acid Oxidation rare disease community. In 2019, Eileen lead a group of patients and caregivers in a presentation before the Food and Drug Administration successfully urging the FDA’s approval of a first-of-its-kind medication for patients living with these disorders. In 2021 Eileen was appointed to the Ohio Rare Disease Advisory Council, where she continues her work to bring the caregiver perspective to other agencies and stakeholders across the State of Ohio.
Sudden cardiac arrest in young adult patients with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency, a retrospective case series report
Gabriela Elizondo / OHSU
Dr. Gabriela Elizondo is a medical geneticist who specializes in metabolic genetics research at the Oregon Health and Science University. Her work on both basic and translational research projects focuses mainly on long-chain fatty acid oxidation disorders. Dr. Elizondo has been published recently in both the Journal of Inherited Metabolic Disorders and Molecular Genetics and Metabolism. She holds a medical degree from the Universidad Autonoma de Nuevo Leon in Mexico and continues her professional development at OHSU.
Comparison of triheptanoin and succinate as anaplerotic treatment in a very long-chain acyl-CoA dehydrogenase deficiency mouse model
Honorable Mention: Xue-Jun Zhao
Dr. Zhao is a research scientist in the Department of Pediatrics, Division of Genetic and Genomic Medicine. He received his MD at Hunan Medical University in China. He then worked at National Training Center of Clinical Pharmacology at the same University and earned his MSc before moved to Tokyo, Japan as a research fellow at Department of Clinical Pharmacology, International Medical Center of Japan. In 1998, he received the Merck Sharp & Dohme International Fellowship in Clinical Pharmacology and came to the United States. He joined Children’s Hospital of Pittsburgh in 2003 as a research associate. His research project focus on the treatment of long chain acyl-CoA dehydrogenase deficiency by VLCAD mRNA in human/mouse VLCAD-/- fibroblasts and Vlcad-/- mouse model.
Improvement in left ventricular ejection fraction in patients treated with triheptanoin for long-chain fatty acid oxidation disorders (LC-FAOD)
Kathryn Ray Biostatistician, Ultragenyx Pharmaceutical, Novato, California
Epidemiologist & Biostatistician, University of California, San Francisco
Dr. Ray received her PhD in Epidemiology and Translational Science from the University of California, San Francisco, her MA in Mathematics from California State University, San Francisco, and her undergraduate engineering degree at Montana State University in Bozeman, MT.
She has worked with medical research teams conducting clinical trials for over 15 years, published ~60 peer reviewed scholarly articles, been invited to lecture to 15+ International and Domestic Symposia, as well as a guest lecturer at UCSF and UC Berkeley. Kathryn was awarded the Methodologic Innovation and Excellence in Epidemiologic Research in 2018 by UCSF Epidemiology & Biostatistics Department. She has been working on the Long Chain Fatty Acid Oxidation Disorder (LC-FAOD) program at Ultragenyx since September of 2018.
A Novel G1528C Knock-in model of LCHAD deficiency recapitulates aspects of the human clinical phenotype
Best Overall Poster: Garen Gaston
Garen Gaston is a Research Associate in the Gillingham lab at Oregon Health Science University, Portland, Oregon, USA. He studies disorders of the fatty acid β-oxidation pathway through the use of multiple model systems. In this effort, he helped develop and characterize patient-derived iPSC cell-culture models and mouse models. Mr. Gaston has previously presented at the 2017 INFORM network meeting and is author and co-author on several journal articles and a book chapter. He holds an MS in Biology from Loyola where he specialized in Genomics.
Mitochondrial bioenergetics and cardiolipin remodeling deregulation in mitochondrial trifunctional protein deficiency
Eduardo Vieira Neto / UPMC-CHP
Eduardo graduated in Medicine from the College of Medical Sciences of the State University of Rio de Janeiro – UERJ, Brazil, in 1980. He obtained a Master Degree in Child and Adolescent Health from the College of Medicine of the Federal University of Rio de Janeiro – UFRJ, Brazil, in 2008, and completed his PhD in Child and Adolescent Health at the same institution in 2018. Part of his PhD studies were carried out at the Dr Jacinto Magalhães Medical Genetics Center, University of Porto Hospital Center, Portugal, within the framework of the interuniversity exchange doctorate promoted by the Ministry of Education of Brazil. His Doctoral Thesis had as its theme: Phenylketonuria in Rio de Janeiro: mutational profile and outcomes of early treatment. He has expertise in newborn screening, in the diagnosis of inborn errors of metabolism by tandem mass spectrometry and in several aspects of phenylketonuria, especially the mutational profile and the genotype-phenotype correlation of this disease. In Brazil, he is board-certified in clinical pathology and medical genetics, by the Brazilian Society of Pathology / Laboratory Medicine and the Brazilian Society of Medical Genetics, respectively. He received extensive training in medical genetics at Martagão Gesteira Institute of Childcare and Pediatrics, UFRJ, Brazil (2004-2005). He is currently an International Postdoctoral Associate at Vockley Lab in the Genetic and Genomic Medicine Division, Department of Pediatrics, School of Medicine, University of Pittsburgh, United States of America. He is engaged in a research project that employs bioenergetic analyses, lipidomic and proteomic techniques to study the effects of inborn errors of fatty acid oxidation (FAO) on mitochondrial structure and function in the cells of patients and in animal models.
Odd-and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency
Best Junior Investigator Poster: Martin Lund Martin is a post-doctoral research fellow at Odense University Hospital, Aarhus University, and Aarhus University Hospital. His research focus is on the underlying pathological mechanisms involved in inborn errors of metabolisms and cancer metabolism. He holds an M.Sc and Ph.D. degrees from Aarhus University.
Preclinical evidence of efficacy of heptanoate and derivatives as anaplerotic therapy for medium chain acyl-CoA dehydrogenase deficiency
Al-Walid Mohsen / UPMC-CHP Walid is a Research Professor at the Department of Pediatrics, University of Pittsburgh. He graduated from college majoring in Biochemistry. He earned his PhD degree in 1992 majoring in Biochemistry with emphasis on enzymology and protein structure and function. He started his research career at the Mayo Clinic, Rochester, MN, working on the acyl-CoA dehydrogenases family of enzymes, more specifically isovaleryl-CoA dehydrogenase. He was the first to determine the function of two previously unknown hypothetical proteins, now known as isobutyryl-CoA dehydrogenase and the potato 2-methylbutyryl-CoA dehydrogenase. In the past decade, he moved to drug development for treating fatty acid oxidation disorders and introduced novel approaches applicable to other diseases. He is a co-inventor on three issued patents for therapies and has three more patents pending. He has recently added developing drug therapy for PA and MMA to his list of projects he supervises.
Testing variants of uncertain significance in a HEK293T model for very long-chain acyl-CoA dehydrogenase deficiency
Meena Sethuraman is a second-year medical student at the University of Pittsburgh School of Medicine. She is in the Physician Scientist Training Program, a 5-year program for medical students interested in basic science and translational research. Her research is with Dr. Jerry Vockley, studying disorders of fatty acid oxidation. Meena previously received her B.S. in Neurobiology at the University of Washington. Her undergraduate and post-baccalaureate research was in gene therapy for atherosclerosis.
Clinical Manifestations Among Pediatric and Adult Patients with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) in the United States: A Claims Database Analysis
Christy Yang, M.S., is a Director in Global Health Economics and Outcomes Research at Ultragenyx Pharmaceutical Inc., a Bay Area, California company dedicated to developing therapeutics for rare and ultra-rare diseases. She has 9 years of experience in real world data analytics and evidence generation. Before joining Ultragenyx, Christy was a Senior Data Scientist at Genentech and healthcare consultant at IQVIA. She has built extensive knowledge and hands-on experience in claims, electronic medical records, and survey data analyses of various disease areas. Christy received her M.S. degree from Harvard School of Public Health.
A mitochondrial long-chain fatty acid oxidation defect leads to uncharged tRNA accumulation and activation
of the integrated stress response in the mouse heart.
Presenter: Pablo Ranea-Robles, Ph.D.
“Fatty Acid Oxidation Disorders: a multicentric case series study from Rio Grande do Sul state, Southern Brazil”
Presenter: Bibiana Mello de Oliveira, Fabiano do Oliveira Poswar, Thiago Oliveira Silva, Daniele Konzen, Maria Teresa Viera Sanseverino, Lilia Farret Rofosco, Carolina Fischinger Moura do Souza, Ida Vanessa, Doederlein Schwartz
Determining the continuing educational needs and learning preferences of dietitians related to managing patients with LC-FOAD
Presenter: Emily Belcher and Sylvia Stacy CE Outcomes, LLC
“VCLAD Nutrition Management Guideline”
Presenter: Sandy van Calcar PhD, RD
Oregon Health & Science University Chair, VCLAD Guideline Workgroup
“Triheptanoin Stability in Foods, Formulas, and Emulsions
Presenter: Debra Geary Hook MPH, RDN, FAND, PhDc
Ultragenyx Pharmaceutical Inc.
“Synthetic Messanger RNA rescues very long-chain acyl-CoC dehydrogenase deficiency in fibroblasts and murine model”
Presenter: Xue-Jun Zhao, M.D.
University of Pittsburgh – UPMC Childrens Hospital of Pittsburgh
“MCADD in silico human liver mitochondria are vulnerable to CoA depletion”
Presenter: Christoff Odendaal, MSc in Biochemistry at Stellenbosch University in South Africa
Studying for his PhD at the University Medical Centre Groningen in the Netherlands
The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.
Defining the structural and functional role of VLCAD in the FAO/ETC-SC through recombination with VLCAD to VLCAD KO mice heart mitochondria
Presenters: Khaled Alatibi, Yudong Wang
Cardiolipin-binding peptide improves cellular bioenergetics in mitochondrial trifunctional protein (TFP)-deficient mice and patient fibroblasts
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders
Join us for a Q & A with Dr. Jerry Vockley (UPMC, INFORM) to discuss the impact of Covid-19 for Fatty Acid Oxidation Disorders.
Emerging Therapies for Phenylketonuria
Join Jerry Vockley, MD, PhD, director of the Center for Rare Disease Therapy and chief, Medical Genetics, at UPMC Children’s Hospital of Pittsburgh for a free webinar. Dr. Vockley will discuss emerging therapies for PKU or phenylketonuria, an inborn error of protein metabolism. The presentation is designed for patients, parents, guardians, and caregivers and will be followed by a live question and answer session.
Novel Therapies for Fatty Acid Oxidation Disorders by Jerry Vockley, MD, PhD
Enhancing Expression and Chaperoning Unstable Proteins:
Getting closer to effective therapy for fatty acid b-oxidation disorders
Al-Walid Mohsen, PhD Research Associate Professor of Pediatrics Medical Genetics,
Children’s Hospital of Pittsburgh / University of Pittsburgh.
Loss of Retinal Pigment Epithelium: The Initial Event in LCHAD Retinopathy Progression?
Melanie Gillingham, PhD, RD / Associate Professor /Department of Molecular and Medical Genetics
Graduate Programs in Human Nutrition / Oregon Health & Science University
Modeling LCHAD Retinopathy in a Patient Derived Retinal Pigment Epithelium
Tiffany DeVine, PhD / Postdoctoral researcher /Department of
Molecular and Medical Genetics
Oregon Health & Science University
Unlocking the Future
We are committed to discovering new FAOD treatments and cures to improve the lives of our patients and their families.