Research History

Disorders of fatty acid oxidation and of the carnitine cycle are an important cause of morbidity and mortality. With the introduction of expanded newborn screening, many of these conditions can be diagnosed and treated at birth, preventing several of the complications. Treatment of these conditions may include fasting-avoidance, diets low in fat containing specific fatty acids, and carnitine supplements. New types of therapies, nutritional and pharmacological, are being tested in humans and animal models of these conditions. Unfortunately, treatment is only partially effective for some conditions and we still do not understand completely the pathophysiology of end-organ damage caused by these inherited disorders.

FAOD Disorders

Read about the Medical Diagnosis, Signs & Symptoms, Genetics and Treatment of the 12 FAOD’s.

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Research

INFORM Virtual Tissue Bank, (VTB), grew out of the desire to share research sample information and testing results to help advance the diagnosis and treatment of disorders of fatty acid oxidation and the carnitine cycle in order to increase knowledge and help patients worldwide.

  • View Research – Knowledge is power

  • Add Research – Sharing is caring

  • Register for the Virtual Tissue Bank – To view and add research

The information in the VTB is only able to be accessed by registered Principal Investigators and their research teams.

Publications

Below are professional publications as they relate to each individual diagnosis. As we receive them from the PI’s they will be added to the appropriate section.

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Meeting

The objective of the INFORM meeting will speak to and discuss the proper diagnostic interpretation of laboratory testing, development of new therapeutic strategies, and on the role of newborn screening ​in preventing complications. It will also serve as the annual gathering of INFORM researchers worldwide. Click on the box below to find out more information about our …

  • Agenda – Dates and Session information

  • Registration – INFORM 2021 will be VIRTUAL for one more year.

  • Partnerships – Current partners and partnership opportunities

2023 Poster Winners!

Sponsored by:

ultragenyx
nestle health science
Andrea Pereyra, MD, PhD

FOR DISTINGUISHED ACHIEVEMENT IN RESEARCH PRESENTED BY THE SCIENTIFIC BOARD OF INFORM IN SPONSORSHIP WITH ULTRAGENYX

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.

Michelle Bisschoff, PhD student

FOR DISTINGUISHED ACHIEVEMENT IN RESEARCH PRESENTED BY THE SCIENTIFIC BOARD OF INFORM IN SPONSORSHIP WITH ULTRAGENYX

Michelle Bisschoff is a final-year PhD student in Biochemistry at the North-West University of Potchefstroom, South Africa, and is supervised by Prof Francois H. van der Westhuizen. She is part of a research group which focuses on inherited errors of metabolism as well as mitochondrial disorders. Her current project collaborates with the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) and involves the comprehensive description of multiple acyl-CoA dehydrogenase deficiency (MADD) in a Southern African cohort – the first of its kind in this population. Michelle holds a BSc, Hons, and MSc degree in Biochemistry, the latter of which investigated mitochondrial complex I dysfunction in a knockout mouse model of Leigh syndrome. Other research projects she has been involved in have included a study evaluating the effect of female contraceptives on cancer development as well as method development for fatty acid oxidation disorders.

Ms. Anuradha Karunanidhi
nestle health science

FOR DISTINGUISHED ACHIEVEMENT IN RESEARCH PRESENTED BY THE SCIENTIFIC BOARD OF INFORM IN SPONSORSHIP WITH NESTLE HEALTHSCIENCE

Anuradha Karunanidhi is a Senior Lab Manager and Research V specialist with a background in Pharmaceutical Sciences and Chemical Engineering with 20+ years of experience spanning research and teaching. She holds a master’s degree in chemical engineering from Indian Institute of Technology, Chennai, India. She has been part of the Dr. Vockley lab for past 14 years. She plays a major role in the ongoing projects involving mitochondrial fatty acid oxidation disorders including ACAD9, CPT II, MCAD, VLCAD, LCAHD, and TFP deficiencies by using her expertise and techniques in designing, developing, screening and optimizing in vitro patients cell culture models to evaluate efficacy of pharmaceutical compounds to remedy the underlying biochemical abnormalities using an array of biomarkers including the effect on production of Reactive Oxygen Species (ROS), immune imaging on cells and tissues using confocal microscopy, and ATP production levels by high-throughput 96 well plate luminescence assay. Additionally, she has independently trained, identified and custom developed the assays needed for studying key cellular functions, glycolysis, mitochondrial respiration, and the bioenergetic profiling of live patient cells in real time using state-of-art Agilent Seahorse Bioanalyzer instrument. She has trained postdocs, visiting scholars, medical fellows, graduate, and undergraduate students. Her experimental results, and those from other lab members she has taught, have been integrated into multiple published manuscripts and two funded NIH R01 grants.

Prior to joining Dr. Vockley lab, she had also worked with other renowned scientists:

  • Dr. Steven Little, Dept of Chemical Engineering, Swanson School of Engineering, University of Pittsburgh
  • Dr. Jeffrey Hollinger, Bone Tissue engineering center, CMU

During her tenure she has been nominated for multiple staff recognition and chancellor’s award.

Shakuntala Basu, MSc, PhD

FOR DISTINGUISHED ACHIEVEMENT IN RESEARCH PRESENTED BY THE SCIENTIFIC BOARD OF INFORM IN SPONSORSHIP WITH RENEO

Shakuntala Basu obtained her B.Sc. (1995) and M. Sc. (1997) in Zoology from Visva Bharati University (National University), India. She was awarded the National Science Merit Scholarship Award during both her Bachelors and Master education and subsequently a full fellowship by Indian Council of Agricultural Research (ICAR) to pursue her doctoral research in Zoology (2004) at Visva Bharati University. After obtaining her Ph. D. she joined the Reproductive Biology Laboratory, National Institute of Natural Sciences, Okazaki, Japan as a post-doctoral fellow under the mentorship of Professor Yoshitaka Nagahama. Currently, she is a Research Staff in Dr Jerry Vockley’s laboratory working with various fatty acid oxidation disorder (FAOD) animal models, investigating FAOD pathways and therapies.

Unlocking the Future

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