Lynn Petukhova, PhD

Genetic information increasingly influences how diseases are managed, improving health outcomes for patients and their family members, and health care efficiency for providers. On a population level, genetic evidence provides molecular definitions of disease pathology, helps to resolve etiological heterogeneity that may not be evident from clinical descriptions of disease alone, and improves drug development success rates and drug safety profiles. On an individual level genetic screening instruments can provide a more informative diagnosis with the use of clinical sequencing or polygenic risk scores. Therefore, our group conducts human genetic studies of skin disease as a starting point to discover biological drivers of disease, to identify and prioritize drug targets, and to improve the accuracy and clinical utility of a skin disease diagnosis. We also develop and implement methods to improve the engagement of research participants with skin disease as partners in research with the goal of insuring an equitable and just distribution of benefits from genomic medicine.

The main clinical focus of our NIH-funded research program is an inflammatory skin disease called hidradenitis suppurativa (HS) or acne inversa. We are founding members of the Hidradenitis Suppurativa Genetics Consortium, a global collaboration that is committed to improving efficiency in gene discovery and clinical translation in HS.