Saturday, April 24 1-4pm

Location: Georgia Tech Hotel & Conference Center
800 Spring St. NW
Atlanta, GA 30308

Presenters are Dr. Keith Hyland and Dr. John Shoffner (Medical Neurogenetics, LLC) and from Dr. Robin Morris (Associate Dean of Research and Graduate Studies; Professor of Psychology; Georgia State University).

• Overview of Mitochondrial Diseases

  How are mitochondrial diseases diagnosed? We will discuss contemporary criteria for patient diagnosis and why careful investigations are important to clinical management as well as how primary and secondary defects in mitochondrial function are diagnosed.

  Why is understanding the genetics of mitochondrial disease important? Mitochondrial diseases have an exceedingly complex genetics. Our understanding of how to treat and manage patients with mitochondrial diseases is inextricably linked to identification of the precise genes. New genetic technologies will be discussed that will have enormous impact on our understanding of mitochondrial disease.

• Mitochondrial Disease and Autistic Spectrum Disorders

  We will discuss important advances in understanding how mitochondrial diseases are associated with some patients who have autistic spectrum disorders. Understanding autistic patients is important for understanding how mitochondrial diseases impair learning and behavior in many types of mitochondrial disease patients.

• Mitochondrial Disease Management

  Mitochondrial Disease management is complex and difficult for families and for physicians. We will discuss progress on important issues.

  Limitations in the efficacy of supplements. Supplements have limited clinical efficacy in most mitochondrial diseases.

  Common defects that require treatment. Defects in cerebral folate metabolism are common in mitochondrial disease. Diagnosis and treatment can be essential to patient management.

• Clinical Trials Road Map.

  Dr. Shoffner will be presenting important aspects of how clinical trials are conducted for mitochondrial diseases. Medical Neurogenetics, LLC has had the privilege of working with our colleague's worldwide, foundations, the FDA and Edison Pharmaceuticals in their EPI-743 program. As we move to the era of treatment and clinical trials, he will discuss how drugs in general progress from bench to bedside. He will not be discussing any data or specifics concerning EPI-743. All questions with regards to this program should be addressed to Dr. Guy Miller, CEO of Edison Pharmaceuticals (gmiller@edisonpharma.com).

  His discussion will focus on understanding how new classes of drugs journey from laboratory testing to clinical development and why many of the tests we perform such as MRI imaging are crucial to understanding disease and potential drug benefits. In order to help families understand the importance of research participation, we will be scheduling tours of the Georgia State-Georgia Tech Functional MRI center for families.

Mitochondria are responsible for producing most of the energy the body uses for every day metabolic functions. More attention has recently been focused on a potential link between ASD and dysfunctional mitochondria [see 2008 Autism-Mitochondria Connection]. A study¹ published in 2009 in the Journal of Child Neurology further examined this link, finding that a subgroup of patients with mitochondria disorders may be at increased risk for autistic regression, especially around periods of fever. Finally, by showing that a subgroup of individuals with mitochondria disorders may be at risk for autistic regression, the publication highlights the continued need for enhanced awareness of the clinical signs of mitochondrial dysfunction.

Shoffner et al. Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression. J Child Neurol. 2009 Sep 22. [PubMed link: 19773461]

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