University of Exeter’s Workshop Explaining the Genomic Variability in Rare Diseases
The Egypt Center for Research and Regenerative Medicine organized a workshop in May for researchers in the Genome Project entitled Introduction to Genomic Variation Interpretation in Rare Diseases. The workshop was conducted by Dr. Emma Babble a lecturer in genomic medicine at the University of Exeter and a consultant in clinical genetics Professor Anna Murray director of the Master's Program in Genomic Medicine at the University of Exeter and Dr. Joseph Leslie a rare disease genetics researcher at the University of Exeter.
The workshop aimed to cover different databases related to each step of genetic variation derivation in order to identify the possible mutations associated with the onset of pathological symptoms. In addition to the approaches practiced to create a simplified methodological sequence that can be implemented to derive these mutations that cause symptoms based on the frequency overlap and similarity of information between the databases used in each step of the sequence.