Leonie Menke

Since medical training, Leonie has worked in Paediatrics and Clinical Genetics, both in clinical care and research. She is currently subspecializing in what the Dutch call ‘Paediatrics, Hereditary and Congenital disorders’, with the ultimate goal to bring more genetic and syndrome-specific knowledge into paediatric practice. Additionally, she is coordinating the Amsterdam Expert Centre for Developmental Disorders (AECO), at which children and adults with various syndromes receive medical care and follow-up. The syndromes for which the centre was officially appointed as an expert centre are Cornelia de Lange, Marshall-Smith, Pitt-Hopkins, and Rubinstein-Taybi syndromes. However, children with Malan, Pierpont, Primrose, tricho-rhino-phalangeal, Menke-Hennekam and Wiedemann-Steiner syndrome are also followed in this clinic. She also coordinates an expert clinic for children with Marfan syndrome and related disorders.

Her research currently focuses on constructing growth charts for various syndromes including Cornelia de Lange syndrome, and on more basic research on a new syndrome that was recently called Menke-Hennekam syndrome. For the latter, she will join the laboratory of Stephen Robertson (Otago University, Dunedin) for half a year from October 2019 onwards. With the more basic research knowledge that she will obtain there, she aims to help further with the studies in Cornelia de Lange syndrome.