This project will allow us to obtain a greater understanding about Myeloproliferative Neoplasms (MPN) in children.
The specific aims of this proposal are to develop symptom profiles by creating a symptom assessment tool for children with MPN and examine cytokine and protein derangements, and to identify causative lesions for these diseases using a targeted genetic analysis (since these lesions are likely different than the causative lesions identified in adults with MPN.) We have begun to leverage a state-of-the-art genomics platform, analyzing 600 genes relevant to MPN and hematological malignancies, to identify novel targets in pediatric MPN patients. The long-term goals include gaining an understanding of the genotypic- phenotypic correlations of MPN so that risk stratifications and treatment algorithms can be designed to manage these children, as well as identifying new or relevant molecular targets for novel therapies to be used in children with MPN, and to allow for future clinical trials to be developed in this population. This proposal will help the PI develop the additional skills needed to become an independent clinical researcher and physician- scientist specializing in pediatric MPN, through research plans, formal didactic coursework, and individual tutorials with her expert advisory committee members. This proposal is highly relevant to the NHLBI's mission of translating basic discovery into clinical practice and helping improve the health and lives of individuals living with blood diseases.
This study relates to public health through its goal of discovering causes of diseases in children, and in identifying clinical disease feature to potentially prevent future complications of these diseases and lead to better treatments. By developing a comprehensive pediatric MPN clinical research program, we will be able to improve disease management and quality of life for children with MPN and their families.
| Chien, Kimberley A; Hammad, Hoda T; Gerber, Linda et al. (2018) Pediatric Gastroenterologists' Approach to Venous Thromboembolism Prophylaxis in Pediatric Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr 66:286-288 |
| Kucine, Nicole; Al-Kawaaz, Mustafa; Hajje, Daher et al. (2018) Difficulty distinguishing essential thrombocythaemia from polycythaemia vera in children with JAK2 V617F-positive myeloproliferative neoplasms. Br J Haematol : |
