Genetic screening technologies to identify and validate macromolecular interactions (MMIs) essential for complex pathways remain an important unmet need for systems biology and therapeutics development. Here, we use a library of peptides from diverse prokaryal genomes to screen MMIs promoting the nuclear relocalization of Forkhead Box O3 (FOXO3a), a tumor suppressor more frequently inactivated by post-translational modification than mutation. ...

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

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

There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

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

Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis ...

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

Congenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• July 2010

A recent genome-wide association study identified variants near CCNL1/LEKR1 (rs900400) and in ADCY5 (rs9883204) to be associated with birth weight. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• February 2011

To investigate the genetic architecture of internalizing symptoms in childhood and adolescence. ...

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

We demonstrate the feasibility of a plant breeding approach without compromising animal productivity to mitigate enteric methane emissions, which is one of the most significant challenges to global livestock production. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• September 2017

We describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program - WA ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• May 2017

Food allergy (FA) affects 2%-10% of US children and is a growing clinical and public health problem. ...

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

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. ...

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

The poor hit rates associated with conventional random peptide libraries present formidable challenges in genetic screening formats with limited throughput. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• August 2017