Genevieve Sarra Jenefer Syn Jamieson Blackwell GS SE JM BSc (Hons), PhD BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Research Officer Senior Research Fellow Head, Genetics & Health (08) 6319 1549 Genevieve.syn@ ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

Medulloblastoma (MB) consists of four core molecular subgroups with distinct clinical features and prognoses. Treatment consists of surgery, followed by radiotherapy and cytotoxic chemotherapy. Despite this intensive approach, outcome remains dismal for patients with certain subtypes of MB, namely, MYC-amplified Group 3 and TP53-mutated SHH. Using high-throughput assays, six human MB cell lines were screened against a library of 3208 unique compounds. We identified 45 effective compounds from the screen and found that cell cycle checkpoint kinase (CHK1/2) inhibition synergistically enhanced the cytotoxic activity of clinically used chemotherapeutics cyclophosphamide, cisplatin, and gemcitabine. ...

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

Promoting psychological well-being and preventing distress among pregnant women is an important public health goal. In addition to adversely impacting the mother's health and well-being, psychological distress in pregnancy increases the risk of poor pregnancy outcomes, compromises infant socioemotional development and bonding, and heightens maternal and child vulnerability in the postpartum period. Mindfulness and compassion-based interventions show potential for prevention and early intervention for perinatal distress. ...

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

Children with ADHD are disadvantaged from an early age in key areas of learning, and this risk increased with reduction in gestational age at birth ...

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

In this paper we review the evidence that fetuses gestated with a male co-twin are masculinized in development, perhaps due to the influence of prenatal... ...

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

We provided health professionals in Western Australia (WA) with educational resources about prevention of prenatal alcohol exposure and fetal alcohol... ...

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

Asthma is the commonest medical cause for hospital admission for children in Australia, affects more than 300 million people worldwide, and is incurable... ...

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

International comparisons were conducted of preschool children's behavioral and emotional problems as reported on the Child Behavior Checklist for Ages... ...

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

Aberrant expression of the TLX1/HOX11 proto-oncogene is associated with a significant subset of T-cell acute lymphoblastic leukemias... ...

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

This review aims to systematically identify and summarise the effects of different antifungal therapies in children with proven, probable or suspected... ...

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

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• July 2009

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• March 2008