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Nadia Schoenmakers
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Wellcome-MRC Institute of Metabolic Science |
Dr. Nadia Schoenmakers, a Principal Investigator at the Wellcome-MRC Institute of Metabolic Science, is ATA’s 2020 Van Meter Award Recipient. Dr. Schoenmakers leads a Wellcome Trust-funded research program on congenital hypothyroidism and serves as an Honorary Consultant Endocrinologist at Addenbrooke’s Hospital in Cambridge. She is also a Visiting Specialist at Great Ormond St. Hospital in London. Dr. Schoenmakers completed her undergraduate, graduate, and postgraduate education at the University of Cambridge. After receiving her MD, she completed her specialty clinical training in endocrinology at Addenbrooke’s Hospital, and she earned her PhD investigating the molecular and clinical characteristics of genetically mediated thyroid hormone resistance. Her research uses candidate gene, gene panel, and whole exome sequencing technologies to identify known and novel genetic causes of congenital hypothyroidism. Dr. Schoenmakers’ work has led to the characterization of three congenital thyroid conditions, collaborations with pediatric endocrinologists and investigators worldwide, and several publications and presentations. As a Consultant Endocrinologist and as a Visiting Specialist, Dr. Schoenmakers contributes to adult and pediatric thyroid practice and to diagnostic services for unusual and rare thyroid disorders.

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学术任务如下
日期 时间 会场 Session 角色 讲题
2020-12-18 16:30-17:30 Room 1

Award Lecture - ATA

Speaker ATA Award Lecture: Congenital Hypothroidism - Culprit Genes and Signature Phenotypes