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Avni B. Santani, PhD

Avni B. Santani

As director of Clinical Laboratories, Strategic Partnerships and Innovation at the Center for Applied Genomics, Dr. Santani oversees the clinical genomics program for the diagnosis of common and rare genetic disorders.


Philip V. Scribano, DO, MSCE

Philip V. Scribano

Dr. Scribano's areas of interest and research involve the epidemiology and prevention of child maltreatment and intimate partner violence, technology use in healthcare, and health services to children in foster care.


Rachana Shah, MD, MSTR

Rachana Shah

Dr. Shah's research is centered on understanding obesity and its related complications. Her current work includes clinical and translational studies exploring pathophysiology and modulation of obesity-related adipose tissue and systemic inflammation using human cell lines and clinical trials. She is also involved in clinical studies of outcomes and risk factors of polycystic ovarian syndrome and type 2 diabetes in teens.


Michael Silverman, MD, PhD

Michael Silverman

Dr. Silverman studies the fundamental aspects of early-life commensal microbes that influence immune system development and function. He discovered that the MHC-II E molecule prevents type 1 diabetes by shaping the intestinal microbiota early in life.


Nancy B. Spinner, PhD

Nancy B. Spinner

Dr. Spinner's research focuses on the etiology and expressivity of pediatric developmental disorders. She uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition. She is also interested in using genomic tools to continue to improve diagnostic rates for constitutional genetic disorders.


Kathleen E. Sullivan, MD, PhD

Photo of Kathleen E. Sullivan

Dr. Sullivan's research focuses on new and rare immunodeficiencies. She has a long-standing interest in one of the most common of the primary immunodeficiencies – chromosome 22q11.2 deletion syndrome. She also investigates common variable immunodeficiency, as well as the genetics and epigenetics of systemic lupus erythematosus.