Leonie Menke defended her PhD-thesis in 2010 on a placebo-controlled, multicenter trial ‘Oxandrolone in growth hormone-treated girls with Turner syndrome’ (promotor: prof dr JM Wit, Leiden University) and has been intrigued by unraveling rare genetic disorders ever since. Since 2016, she has been working as a Pediatrician/Clinician-scientist at the Department of Pediatrics, Emma Children’s Hospital, Amsterdam UMC. She was one of the two founders of the Division of Developmental and Genetic Pediatrics. 

From 2016 onwards, she has been the head of the Amsterdam UMC NFU accredited Expertise Center for Developmental disorders (AECO) for rare syndromic intellectual disability, Cornelia de Lange, Marshall-Smith, Malan, Menke-Hennekam, Pitt-Hopkins, and Rubinstein-Taybi syndrome. She also leads and coordinates the Amsterdam UMC Expertise Center for children with Marfan syndrome and related connective tissue disorders. Additionally, she has been the center lead of the European Reference Network ITHACA. In 2019/2020, she did a postdoctoral fellowship at the laboratory of prof. Stephen Robertson in New Zealand (Department of Women’s and Children’s Health, Dunedin School of Medicine, University of Otago, New Zealand) on a newly discovered syndrome (later named Menke-Hennekam syndrome by OMIM). She contributed to international guidelines for various syndromes, is member of the international working group “Elements of Morphology” (WHO-accredited terminology for dysmorphic features) and is member of various scientific advisory boards (e.g., the International Cornelia de Lange Syndrome Patient Support Group and Malan Syndrome Foundation). Her research lines focus on growth and constructing syndrome-specific growth charts for various syndromes, discovering and unraveling new syndromes (such as the Menke-Hennekam phenotypes), and finding new therapeutic strategies for rare genetic disorders. 
Since 2022 she has been president of the national board of the Developmental and Genetic Pediatricians, and  deputy head of the Developmental and Genetic Pediatrics fellowship training. As of March 2024, she has been appointed as Assistant professor at the Emma Center for Personalized Medicine with a focus on therapy development for genetic disorders. 

Developmental and Genetic Pediatrician