Nancy Spinner (USA)

Professor of Pathology and Laboratory Medicine

Nancy Spinner, PhD is a Professor of Pathology and Laboratory Medicine at The University of Pennsylvania School of Medicine. She holds the Evelyn Willing Bromley Chair in Paediatric Pathology and is the Founding Chief of the Division of Genomic Diagnostics at The Children’s Hospital of Philadelphia, created in 2014. She has won several teaching and mentorship awards at the University of Pennsylvania. Her research is focused on the genetics and diagnosis of rare paediatric disorders, specifically on the genomics of Alagille syndrome, biliary atresia, ring chromosomes, and utilization of genome wide testing for paediatric diagnosis. She has served as a managing editor for the journal Human Mutation and as an assistant editor for PLoS Genetics, on the Scientific Advisory Board for the Alagille Syndrome Alliance and the Ring20 Research and Support UK, on the Board of Directors for the American Society of Human Genetics (ASHG) as well as on multiple ASHG committees.
Nancy Spinner

Meet the team at Ring20

Medical Advisors at Ring20


Antonio Gil-Nagel (Spain)

Chief Medical Advisor (SAB Chair)

Rhys Thomas

Rhys Thomas (UK)

Ring20 Deputy Medical Advisor


Kentaro Tokumoto (Japan)


Yushi Inoue

Yushi Inoue (Japan)

Epileptologist and psychiatrist

Ken Myers

Ken Myers (Canada)

Paediatric neurologist clinician-scientist and assistant professor

Ramki Rajagopalan

Ramakrishnan (Ramki) Rajagopalan (USA)

Lead Research Bioinformaticist

Nancy Spinner

Nancy Spinner (USA)

Professor of Pathology and Laboratory Medicine

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Alexander Rotenberg (USA)

Professor of Neurology


Lieven Lagae (Belgium)

Professor Paediatric Neurology

Angela Peron

Angela Peron (Italy)

Associate professor of Medical Genetics

Prof Maria Canevini

Maria Paola Canevini (Italy)

Director of the Neurology


Simona Balestrini (Italy/UK)

Associate Professor of Child Neurology

Phil Tittensor

Phil Tittensor (UK)

Consultant Nurse

Sarah Tittensor

Sarah Tittensor (UK)

Learning disability nurse


Ailsa McLellan (UK)

Consultant Paediatric Neurologist

Archana - updated pls use

Archana Desurkar (UK)

Medical Advisor

Arjune Sen

Arjune Sen (UK)

Medical Advisor

Meet the Ring20 Trustees


Tim Buckinx (Patient Representative)


Dale Ward3

Dale Ward (Patient Representative)



Kim Parks (Treasurer)



Lydia Hirst (Chair)