Children with Down syndrome (constitutive trisomy 21) that develop acute lymphoblastic leukemia (DS-ALL) have a 3-fold increased likelihood of treatment-related mortality coupled with a higher cumulative incidence of relapse, compared with other children with B-cell acute lymphoblastic leukemia (B-ALL). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• July 2020

The Translational Genomics in Leukaemia team is focused on identifying the causes of leukaemia, with the goal of developing new targeted treatments to improve quality of care and long-term survival for all children with leukaemia. ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Cancer Program

Listed are all Telethon Kids Institute research teams involved in our Cancer Program. This program sits under the Chronic and Severe Diseases research theme. ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases

Sébastien Malinge SM PhD Laboratory Head, Translational Genomics in Leukaemia, Ursula Kees Fellow (CCRF), Cancer Council WA Fellow (CCWA), Senior ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• July 2022

Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• July 2021

Transcription factors known to induce the epithelial-to-mesenchymal transition (EMT) (such as ZEB1/2 [zinc finger E-box binding homeobox 1/2], SNAI1/2/3, and TWIST1/2) have been undoubtedly implicated in tumorigenesis, cancer progression, metastasis, and chemoresistance in solid tumors; however, their role in normal and malignant hematopoiesis has been underappreciated for many years. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• August 2020

DYRK1A is a serine/threonine kinase encoded on human chromosome 21 (HSA21) that has been implicated in several pathologies of Down syndrome (DS), including cognitive deficits and Alzheimer's disease. Although children with DS are predisposed to developing leukemia, especially B cell acute lymphoblastic leukemia (B-ALL), the HSA21 genes that contribute to malignancies remain largely undefined. Here, we report that DYRK1A is overexpressed and required for B-ALL. Genetic and pharmacologic inhibition of DYRK1A decreased leukemic cell expansion and suppressed B-ALL development in vitro and in vivo. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• January 2021

In this study, we investigate the in vivo synergy between romidepsin and cytarabine ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• July 2019

This JAK3A572V knockin model is a relevant new tool for testing the efficacy of JAK inhibitors in JAK3-related hematopoietic malignancies ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018