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Author: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.

Dr. Samantha A. Vergano, MD, is a clinical geneticist who cares for children and families with genetic and metabolic conditions. She is the Associate Medical Director for Outpatient Services in the Division of Genetic Medicine at Seattle Children’s, a role she began in July 2024 after more than a decade leading the Division of Genetics and Metabolism at Children’s Hospital of The King’s Daughters (CHKD) in Norfolk, Virginia.

Before moving to Seattle, Dr. Vergano served as division director at CHKD and held a faculty appointment at Eastern Virginia Medical School (EVMS), where she was an associate professor in Pediatrics (Genetics and Metabolism). She earned her medical degree from EVMS and completed pediatric training at Morristown Memorial Hospital. 

Her clinical and research work focus on neurodevelopmental disorders, dysmorphology, and syndromes caused by changes in genes that guide chromatin remodeling. She is internationally known for expertise in Coffin–Siris syndrome (CSS). In 2015 she established a natural-history registry for CSS and related disorders that has enrolled hundreds of individuals worldwide, helping clinicians and families understand typical features, health risks, and care needs over time. She also co-authored the GeneReviews chapter on CSS, reflecting her ongoing leadership in research and patient advocacy in this field.

Dr. Vergano’s academic output includes peer-reviewed articles and collaborative studies that map the clinical spectrum of genes such as ARID1B and ARID2, which are central to CSS and overlapping conditions. Her publications and citations show sustained contributions to medical genetics across topics like intellectual disability and multiple congenital anomalies. 

In addition to research and patient care, she mentors trainees and works across teams to improve access to genetic services. Colleagues describe her approach as practical, family-centered, and attentive to the everyday impact of rare disorders. Her work has been recognized in physician directories and professional networks, and she has been listed as a Castle Connolly “Top Doctor.” 

Today, at Seattle Children’s and the University of Washington, Dr. Vergano continues to see patients, guide outpatient genetics programs, and lead research that connects laboratory discoveries with real-world care. Families and clinicians also benefit from the CSS registry she leads, which supports education, research partnerships, and community building for this rare condition. 

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