We are interested in the biology of skin and inflammatory disease. Getting to the basis of such conditions requires an exquisite understanding of skin biology. Genetics is an important part of this puzzle. Rare syndromes offer a critical opportunity to understand skin biology. Extremely rare and familially inherited skin / inflammatory syndromes are typically caused by genetic changes. 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 cluster of uncommon disease. For example, multiple siblings and their children have the same rare disease, that is an excellent candidate for sequencing.

Examples of diseases we might be interested in examining: