Professor Jeannine Heckmann
Our research focus is on neuromuscular diseases (NMD) and the problems particular to Africans with NMDs. We have spent several years unravelling the genetic mechanisms underlying a subphenotype of antibody-mediated myasthenia gravis (fatigable weakness in muscles which can be severe) which results in treatment resistant paralysis of ocular muscles. We are now involved in the discovery of prognostic biomarkers to identify these patients earlier which could result in altered management. Additional projects relate to; discovering new genes, pathways and biomarkers involved in Motor Neuron Disease (MND) which can be used to assess target engagement in treatment trials; cognitive phenotyping of Africans with MND; identifying molecular genetic diagnoses of inherited neuromuscular diseases in Africans and to participate in subsequent treatment trials.
Clinical Neuroscience • Neurogenetics