The student will investigate patients with germline homozygous variants in the cyokine IL11. He/she will make use of patient-derived fibroblasts and serum to confirm the pathogenicity of identified mutations and examine its downstream effects on cellular activity. Additionally, an animal model may be envisaged in collaboration with European group and new clinical assays may required to better define syndrome. This falls under the Smart Health Initiative towards the understanding of monogenic diseases. This may become a part of a PhD project.