Micheala A. Aldred, PhD

Bio

Micheala Aldred graduated from University College London with a first class degree in Genetics. Her PhD studies were conducted at the MRC Human Genetics Unit, Edinburgh, Scotland, where she worked on the genetics of X-linked retinitis pigmentosa.  Her postdoctoral training at the University of Cambridge and Ohio State University includes experience in cancer genetics and chromosome deletion syndromes. Dr Aldred ran the clinical molecular genetics diagnostic laboratory at the University of Leicester for five years, where she worked with Professor Richard Trembath on the genetics of pulmonary arterial hypertension (PAH), and was part of the international consortium that identified bone morphogenetic protein receptor 2 (BMPR2) gene mutations in familial PAH.  Prior to moving to Indianapolis, Dr Aldred held faculty appointments at the University of Leicester, and in the Genomic Medicine Institute at Cleveland Clinic.

Dr Aldred’s research combines her wide-ranging experience in inherited diseases and cancer genetics to the study of PAH and Hereditary Hemorrhagic Telangiectasia (HHT). PAH is a potentially fatal disorder characterized by proliferative changes in the vessels of the lungs, leading to a sustained elevation in pulmonary artery pressure.  This increased pressure in turn affects the heart and may lead to right heart failure.  Dr Aldred has recently identified somatic chromosomal alterations in endothelial cells from the lungs of PAH patients.  Her work now focuses on characterizing the molecular basis for these changes and their functional role in the disease process.  Her group has also shown that mutations in the BMPR2 gene or in SMAD9, a downstream mediator of bone morphogenetic protein (BMP) signaling, can disrupt BMP-regulated microRNA processing, thus highlighting a new pathway that may be important in the pathogenesis of PAH. This work has culminated in testing drugs that could bypass the genetic defect, opening up the possibility of personalized therapy for patients with the familial form of PAH. This project has now broadened to include HHT, a related vascular disorder that is also caused by mutations in the BMP signaling pathway. Dr Aldred’s research is funded by an Outstanding Investigator Award from the NIH, and she is an active participant in several national and international pulmonary hypertension consortia.