2024 INFORM Lecture Series

We would like to congratulate all of the speakers who have been selected to present during the 2024 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:  keith.mcintire@chp.edu

All lectures are presented over ZOOM starting at 10:00AM – 11:00AM Eastern Standard Time USA

Monday, March 18, 2024, 10:00AM -11:00AM EST / USA

Yudong Wang, PhD

Yudong Wang, PhD

Dr. Yudong Wang is a research assistant professor in the Department of Pediatrics at the University of Pittsburgh School of Medicine. His groundbreaking work demonstrated the physical and functional relationship between fatty acid oxidation and electron transfer chain supercomplexes. He earned his Ph.D. degree from the Agricultural University of China and has been a member of the Division of Genetic and genomic medicine for 15 years.

Dr. Wang’s research continues to focus on characterization of the molecular architecture of mitochondrial metabolism, with an emphasis on the broad group of mitochondrial NADH dependent dehydrogenases and their interaction with ETC complex I. He currently is studying the branched chain keto acid dehydrogenase and pyruvate dehydrogenase complex.

University of Pittsburgh School of Medicine, Pittsburgh, PA,
University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA

His Presentation:

Pyruvate dehydrogenase interacts with electron transfer chain supercomplexes

Keaton Solo, B.S.

Keaton Solo, B.S.  

Keaton completed his undergraduate studies in Biochemistry at Virginia Tech
before moving to Pittsburgh and joining Dr. Jerry Vockleys lab as a technician,
where his interest in genetics and fatty acid oxidation disorders was bolstered.
In 2020 he began a PhD in Human Genetics and has been working alongside
Dr. Eric Goetzman investigating alternate treatment options
for long-chain fatty acid oxidation disorders.”

His Presentation :

Medium-chain acylcarnitines target muscular phenotypes in long-chain fatty acid oxidation Disorders

 

Monday, May 20, 2024, 10:00AM -11:00AM EST / USA

David Olsson, MD

David Olsson, MD

Dr. Olsson is currently working as a consultant at the Department of Pediatric Endocrinology
and Metabolic disorders at the Karolinska University Hospital. Dr Olsson completed his pediatric
training at Astrid Lindgren Children Hospital in Stockholm before joining the fellow program
at the Department of Pediatric Endocrinology and Metabolic disorders where he currently
serves as a consultant in Metabolic disorders with a special focus on fatty acid oxidation disorders.

His Presentation:
Fasting metabolism in children with fatty acid oxidation disorders: Earlier lipolysis in VLCADD compared to MCADD patient.

 

Ligia A. Kiyuna, PhD student

Ligia A. Kiyuna, PhD student

Ligia Kiyuna is a fifth-year PhD candidate at the University of Groningen in the Netherlands, supervised by Professor Barbara M. Bakker. During her master’s in Brazil, she studied the effects of oxidative stress on micro-RNA biosynthesis in heart failure. Since 2019, her research projects are focused on understanding the pathophysiology of medium-chain acyl-CoA deficiency (MCADD) from both a biochemical and systemic perspectives.

Her Presentation:

A new old player in MCADD: reduced coenzyme A availability in medium-chain acyl-CoA dehydrogenase deficiency.

 

Monday, June 17, 2024, 10:00AM -11:00AM EST / USA

Andrea S. Pereyra, MD, PhD

Andrea S. Pereyra, MD, PhD

Dr. Andrea Pereyra is a Postdoctoral Scholar at the East Carolina Diabetes and Obesity Institute and the Brody School of Medicine at East Carolina University, working at the intersection of lipid metabolism and muscle physiology. She earned M.D. and Ph.D. degrees from the National University of La Plata School of Medicine in Argentina. Currently, her work focuses on understanding how defects in mitochondrial lipid catabolism drive alterations in skeletal and cardiac muscle contractile apparatus beyond energy supply and ATP production.

Additionally, Dr. Pereyra serves on the Board of Directors at the National Postdoctoral Association and regularly contributes to the American Society of Biochemistry and Molecular Biology as a scientific writer.

Her Presentation:
Muscle contraction-related proteome and calcium homeostasis are disrupted in CPT2-deficient mice.

Ana Marcão, PhD

Ana Marcão, PhD

Ana Marcão is a genetics specialist in the Human Genetics Department of the Portuguese National Institute for Health, where she has integrated the Newborn Screening, Genetics and Metabolism Unit since the implementation of extended metabolic newborn screening in Portugal, in 2004. She has a degree in biochemistry, and for several years developed research activity in the field of Lysosomal Storage Disorders. From this work, she obtained a PhD degree in Biomedical Sciences, from the University of Porto. Over the last 20 years, she has been contributing to the development of the Portuguese Newborn Screening Program, integrating a very motivated team, and engaged in expanding, improving and consolidating the Portuguese newborn screening program.  

Her Presentation:
Mitochondrial – oxidation of fatty acid disorders: a retrospective neonatal screening study of 18 years by MS/MS

Unlocking the Future

We are committed to discovering new FAOD treatments and cures to improve the lives of our patients and their families.