Category Archives: Congenital disorders

Monash-led national program to improve treatments for kids with muscle

You are here: 21 September 2023 A national clinical consortium has joined forces to improve care outcomes for children born with congenital muscle disease, led by Monash University’s Professor Peter Currie.   Enabled by a $2.5million Medical Research Future Fund grant received in 2021, the ‘Australian functional Diagnostics platform for Advancing Personalised Treatment of Congenital Muscle […]

Association between neurodevelopmental outcomes and concomitant presence of NEC and IVH in extremely low birth weight infants

Abstract Objective To quantify the association between necrotizing enterocolitis (NEC) and neurodevelopmental disability (NDI) in extremely low birth weight (ELBW) infants with intraventricular hemorrhage (IVH). Study design ELBW survivors born 2011–2017 and evaluated at 16–26 months corrected age in the Vermont Oxford Network (VON) ELBW Follow-Up Project were included. Logistic regression determined the adjusted relative […]

Prevalence and risk factors of disabilities among Egyptian preschool children: a community-based population study

United Nations, UN convention on the rights of persons with disabilities 2006 [Available from: https://www.un.org/disabilities/documents/convention/convoptprot-e.pdf. Developmental disabilities among children younger than 5 years in 195 countries and territories, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet Glob Health 2018;6(10):e1100-e21. National Research C. Institute of Medicine Committee on Integrating the Science […]

Global Congenital Adrenal Hyperplasia Treatment Market Anticipates Robust Growth, Fueled by Rising Disease Prevalence and Research Investments

DUBLIN, Sept. 20, 2023 /PRNewswire/ — The “Global Congenital Adrenal Hyperplasia Treatment Market Report and Forecast 2023-2031” report has been added to  ResearchAndMarkets.com’s offering. The global congenital adrenal hyperplasia treatment market is poised for substantial growth during the forecast period of 2023-2031. This growth is primarily driven by the increasing prevalence of congenital adrenal hyperplasia worldwide […]

COMMENTARY: Atlantic newborn screening lags rest of Canada

STORY CONTINUES BELOW THESE SALTWIRE VIDEOS Protests and counter-protests | SaltWire Watch on YouTube: “Protests and counter-protests | SaltWire” Gaby Bourbara, general manager of Alexion Canada, provided the following opinion article. The arrival of a newborn can be so overwhelming, many Canadian parents are unaware of the potentially life-saving screening tests performed on their baby […]

Genetically modifying individual cells in animals

With the new method, the cells in individual organs of animals can be genetically modified in a mosaic-like manner (symbol image generated with Midjourney). Credit: ETH Zurich One proven method for tracking down the genetic causes of diseases is to knock out a single gene in animals and study the consequences this has for the […]

The better genetic test for newborns

Researchers suggested in a recent study that broad genetic testing could help safe millions of other children. The results of clinical trial were published recently in the Journal of the American Medical Association. Data showed testing sick newborns full genetic blueprint is nearly twice as good at finding genetic problems or abnormalities compared to narrower, more […]

Australian biobank aims to discover new treatments for children with genetic muscle diseases

An Australian-first biobank will be established to improve and discover new treatments for children with genetic muscle diseases. The National Muscle Disease Bio-databank, co-led by Murdoch Children’s Research Institute, Monash University and Alfred Health, will advance research into understanding why children develop genetic muscle diseases. The project forms part of a $2.5 million Medical Research […]