Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease. ...

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

The abundance of cell-free microRNA (miRNA) has been measured in blood plasma and proposed as a source of novel, minimally invasive biomarkers for several diseases. Despite improvements in quantification methods, there is no consensus regarding how haemolysis affects plasma miRNA content. ...

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

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

We have a great opportunity for an enthusiastic individual with a breadth of technical skills to assist child health researchers with their data ...

• 1. Telethon Kids Institute
• Be involved
• Careers and Volunteering
• Previous job vacancies

With more families using continuous glucose monitoring, many people are asking what they can do to reduce the rise in glucose levels after meals. ...

• Rio Tinto Children's Diabetes Centre
• News and events

What the national Consumer Involvement Committee have been working on ...

• Rio Tinto Children's Diabetes Centre
• News and events

Yael Jacinta Penelope Keely Bep Amy Helen Claire Perry Freeman Strauss Bebbington Uink Finlay-Jones Milroy McIlroy YP JF PS KB BU AFJ HM CM BPsych ( ...

• 1. Telethon Kids Institute
• Projects
• Past projects

Jonathan Carapetis AM JR AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@ ...

• 1. Telethon Kids Institute
• Projects

Little is known about how sun exposure may affect the maternal skin barrier during pregnancy when many hormonal and physiological changes occur. In this longitudinal observational study, 50 pregnant women were recruited at 18-24 weeks' gestation, 25 in summer-autumn, and 25 in winter-spring. At three time points in pregnancy at 18-24, 28-30, and 36-38 weeks' gestation, participants completed a validated sun exposure questionnaire and had skin permeability and surface pH measured on the volar forearm. ...

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

Increased safe sun exposure in winter therefore represents a plausible means of reducing fasting blood sugar in children with obesity ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• October 2019