Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology ...

• 1. Telethon Kids Institute
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We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype. ...

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

The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially... ...

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

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

Although many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers.  ...

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

Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis. ...

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

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. ...

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

People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient. ...

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

Surgical resection of cancer remains the frontline therapy for millions of patients annually, but post-operative recurrence is common, with a relapse rate of around 45% for non-small cell lung cancer. The tumour draining lymph nodes (dLN) are resected at the time of surgery for staging purposes, and this cannot be a null event for patient survival and future response to immune checkpoint blockade treatment. This project investigates cancer surgery, lymphadenectomy, onset of metastatic disease, and response to immunotherapy in a novel model that closely reflects the clinical setting. In a murine metastatic lung cancer model, primary subcutaneous tumours were resected with associated dLNs remaining intact, completely resected or partially resected. ...

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