Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts. ...

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

The biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients. ...

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

We provided a broad atlas of miRNA expression and promoters in primary mammalian cells, establishing a foundation for detailed analysis of miRNA. ...

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

Examining the overlap between genes perturbed in the KD-CAGE experiments and genes with a ChIP-seq peak within 50 kb of their promoter, we identified direct... ...

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

A systematic comparison of the cellular and molecular changes in neurons in vitro induced by low intensity magnetic stimulation at different frequencies. ...

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

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

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

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