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

Contact Keith for the Zoom link

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

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