The central conducting lymphatic system in patients with the Rasopathies Noonan Syndrome and CardioFacioCutaneous Syndrome with and without lymphatic disease

Awardee: Jos M Draaisma

Institution: Radboud University Medical Center

Grant Amount: $60,100.00

Funding Period: February 1, 2023 - January 31, 2024


Summary:

To get a better insight into the central lymphatic system in adult volunteers with Noonan Syndrome (NS) and CardioFacioCutaneous (CFC) Syndrome without clinical symptoms or signs of lymphatic disease compared to healthy adult volunteers without disease and NS and CFC patients with severe lymphatic disease. This to enable therapy with MEK-inhibitors or lymphovenous anastomosis. The Dutch Noonan Syndrome Foundation participates in this study.

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Development of novel gene therapy strategies for treatment of all SCN2A Disorders

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A novel Zebrafish model of Kaposiform Lymphangiomatosis: A tool for drug discovery