Atmospheric carbon dioxide (CO2) levels are currently at 418 parts per million (ppm), and by 2100 may exceed 900 ppm. The biological effects of lifetime exposure to CO2 at these levels is unknown. Previously we have shown that mouse lung function is altered by long-term exposure to 890 ppm CO2. Here, we assess the broader systemic physiological responses to this exposure. ...

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

Our data demonstrate a causal relationship between activating Pik3ca mutations and the genesis of venous malformations ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• March 2016

Postdoctoral Research Fellow ...

• 1. Telethon Kids Institute
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• Our people
• Staff Profiles - C

Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet. ...

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

A novel mouse model for glioma demonstrating that the PI3K pathway is important for initiation of tumorigenesis ...

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

We report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease ...

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

Infant MLL-AF4-driven acute lymphoblastic leukemia (ALL) is a devastating disease with dismal prognosis. A lack of understanding of the unique biology of this disease, particularly its prenatal origin, has hindered improvement of survival. We perform multiple RNA sequencing experiments on fetal, neonatal, and adult hematopoietic stem and progenitor cells from human and mouse. ...

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

A significant proportion of chronic obstructive pulmonary disease exacerbations are strongly associated with rhinovirus infection (HRV). In this study, we combined long-term cigarette smoke exposure with HRV infection in a mouse model. ...

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

Senior Postdoctoral Researcher and Research Project Manager ...

• 1. Telethon Kids Institute
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The FANTOM5 project investigates transcription initiation activities in more than 1,000 human and mouse primary cells, cell lines and tissues using CAGE. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015