Marie-José Walenkamp: paediatric endocrinologist whose research focused on genetics in growth
BMJ 2021; 373 doi: https://doi.org/10.1136/bmj.n1562 (Published 17 June 2021) Cite this as: BMJ 2021;373:n1562- Tony Sheldon
- Utrecht, The Netherlands
- tonysheldon5{at}cs.com
At the start of her fellowship in paediatric endocrinology at Leiden University Medical Center (LUMC), a shy, and still largely unknown, Marie-José Walenkamp chanced on a patient who appeared to have a novel genetic abnormality resulting in severe short stature.
Together with her mentor, Jan-Maarten Wit, Walenkamp, then in her mid-30s, decided it was an interesting case to study. She managed to round up the whole extended family of 30 people, bringing them to the Leiden hospital for clinical assessment and laboratory tests to try to understand the effect of the pathogenic variant of insulin-like growth factor 1 (IGF-1).
“She was very good at this. Her communication skills helped enormously,” recalls Wit. Other colleagues of Walenkamp, who died aged 54, said simply: “Her patients adored her.”
Research into growth and development
This, together with her perseverance and attention to detail, emerged in this first publication of a case with an IGF-1 mutation. It was the start of an academic career in which she would become acknowledged internationally as making important contributions to understanding the genetic nature of short and tall stature. …
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