Investigators in the Division of Autonomic Disorders lead basic research projects designed to advance our molecular understanding of conditions such as familial dysautonomia and Hirschsprung disease.

Pluripotent Stem Cells in Familial Dysautonomia

We collaborate with the Zeltner Lab at the University of Georgia, a reference research site with expertise to generate induced pluripotent stem cells (iPSCs) derived from blood or skin samples from patients with familial dysautonomia and differentiate them into sensory and sympathetic neurons. This technology can be employed to model and study cellular and molecular underpinnings of the disease and provides a platform for screening for potential therapeutic drugs.

The Microbiome in Familial Dysautonomia

Many patients with familial dysautonomia suffer from malnutrition despite adequate caloric intake. The microbiome is an evolving field of research that studies the particular composition of microorganisms that make part of our gut flora. Disruptions in the microbiome may be implicated in many neurologic conditions. This study, in collaboration with Frances Lefcort, PhD, at Montana University, aims to better understand the microorganisms that live in the gut of patients and animal models of familial dysautonomia and whether these play a role in their digestive function and metabolic status.

Muscle Dysfunction in Familial Dysautonomia

Patients with familial dysautonomia are at high risk for muscle disease, including atrophy and injury. To investigate why this occurs, we are collecting samples of muscle during routine surgeries (for example, during orthopedic spine surgery) to look at the structure and function of the muscle. We examine these muscle samples to understand their structure, innervation, and energy components. By understanding more about the muscle, we can learn how best to prevent muscle damage in familial dysautonomia.

Genetic and Molecular Interactions in Familial Dysautonomia and Hirschsprung Disease

Patients with Hirschprung disease have prominent gastrointestinal dysfunction, as also observed in familial dysautonomia. In Hirschprung disease, secondary genetic modifications that affect remote molecular pathways may cause changes in gastrointestinal function. We collaborate with Sumantra Chatterjee, PhD, and Dr. Lefcort in research involving patients and animal models to unravel the genetic and molecular interactions between these two rare genetic disorders.