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 Diagnosis

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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Conference

The objective of the INFORM conference 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 meeting of INFORM researchers worldwide.

  • Agenda – Dates and session information

  • Registration – ​​INFORM 2019 will be held in Amsterdam, The Netherlands

  • Sponsorship – Current sponsors and sponsorship opportunities

2018 INFORM Conference Speakers

Please hover over each image to see the speakers name.

Abstracts

Unlocking the Future

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

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