PAH-ICON: International Consortium for Genetic Studies in PAH

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.

Stefan is a computational biologist with a background in biophysics and molecular biology particularly interested in analysing population-scale data sets to pave the way for personalised vascular genomic medicine. Early on in his postdoctoral scientific career he contributed to major national and international collaborative efforts (Ensembl, Encode, BioSapiens) in the field of genomics while working as a scientific programmer at the EMBL - European Bioinformatics Institute. Stefan then decided to shift his focus towards medical research by taking advantage of the gained expertise in managing big data sets with the aim to translate results into the clinic. Initially, he contributed to the seminal molecular reclassification of more than 2,000 breast cancer samples (METABRIC). In 2012 Stefan moved on to establish his own research group in the cardiorespiratory field, investigating the genetic causes of rare diseases like pulmonary hypertension (PH, high blood pressure in the lungs) or cerebral small vessel disease (CSVD, rare strokes), both conditions that are characterised by the dysregulation of the underlying molecular networks of the vascular bed. This work helped streamlining the genetic diagnosis in the national healthcare system and uncovering missing genetic heritability.