The Nichols lab, led by William C. Nichols, PhD, is primarily interested in the genetics of pulmonary hypertension with a secondary interest in the genetics of Parkinson disease. Specifically, we are investigating factors that contribute to the genetic susceptibility to Pulmonary Arterial Hypertension (PAH). Dr. Nichols guided his lab to playing an instrumental role in identifying the first gene (BMPR2) associated with the disorder. Since then, studies have been ongoing to search for other genes responsible for PAH pathogenesis and also modifier genes that could affect the severity or onset of PAH.
Pulmonary Arterial Hypertension (PAH) is a devastating disorder of the pulmonary arterioles that can lead to right heart failure and death. This is a rare disease with an estimated prevalence of 15-50 cases per million. The pathogenesis of PAH involves occlusion of the pulmonary arterioles in the lung, which increases the pressure in the pulmonary artery and pulmonary vasculature. This increase in pressure leads to right ventricle (RV) hypertrophy and eventually RV failure. The disorder is more prominent in females, but is also seen in males. Causal genes have been implicated in the development of PAH, but much is still unknown about the mechanisms of the disease as well as other susceptibility factors.
In the Nichols Lab, our studies on the genetics of PAH make use of human samples as well as mouse/rat models of pulmonary hypertension:
- The National Biological Sample and Data Repository for PAH (PAH Biobank): The PAH Biobank is an NIH/NHLBI funded effort to bank biological samples, genetic data, and clinical data for over 3,000 WHO Group 1 PAH patients. This collection is a resource to be utilized by the research community to further discoveries and breakthroughs on both the cause and possible treatment of PAH.
- Genetic Analysis of Murine Chronic Hypoxia-Induced Pulmonary Hypertension: This project utilizes a three tiered approach to search for new genes responsible for PAH and also genes that can modify PAH severity in mice.
In addition to research on PAH, the Nichols Lab also has an interest in genetic susceptibility to Parkinson Disease and has been doing collaborative research on the genetics of this disorder since 1998.