We are interested in inflammatory disease and the biology of skin. Rare, likely genetic, syndromes offer a critical opportunity to understand these areas. By sequencing DNA from affected individuals and correlating it with their symptoms, we discover new genes and pathways that may be relevant to even common skin conditions.
High-throughput sequencing has made solving such cases routine. However, we’re a genetics / genomics lab, not a clinical lab. We rely on physicians to refer such cases to us. We would be interested in discussing any very rare syndromes you observe, or familial clusters of uncommon disease. For example, if multiple siblings and their children have the same rare disease, that is an excellent candidate for sequencing.
Examples of diseases we have an interest in: