Human Genetics 1 - Functional Genomics of Muscle, Nerve and Brain Disorders
Aim and focus
The primary focus of this program is to elucidate genetic, genomic, and epigenetic modifiers in both common and rare neuromuscular, neurogenetic, neurodegenerative, and myodegenerative diseases. Our strategy ranges from identifying genes in patient material to studying pathology through immunological, molecular, electrophysiological, and biochemical approaches. We also aim to develop interventions targeting the genetic causes of these diseases and/or their pathology.
…Aim and focus
The primary focus of this program is to elucidate genetic, genomic, and epigenetic modifiers in both common and rare neuromuscular, neurogenetic, neurodegenerative, and myodegenerative diseases. Our strategy ranges from identifying genes in patient material to studying pathology through immunological, molecular, electrophysiological, and biochemical approaches. We also aim to develop interventions targeting the genetic causes of these diseases and/or their pathology.
Mission
Our mission is to elucidate molecular changes in these diseases with the goal of developing new, reliable, and feasible techniques for accurate clinical diagnostics. We aim to refine prognostic precision, study normal and abnormal gene products through reverse genetics and functional genomics, and generate and use cellular and animal model systems. These efforts are directed towards understanding disease pathology, developing therapies, discovering biomarkers, and improving prevention.