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Describing outcomes for conditions associated with genetically linked intellectual disability as part of a statewide screening cohort study

There are over 7,000 rare diseases that on average take ~4 years to diagnose, during which families consult on average 5 doctors and receive 3 misdiagnoses. This diagnostic odyssey has health and economic burden for the children, their families and the health system. Our funded program, called ‘EpiGNs’ will screen for intellectual disability genetic conditions and also the treatable conditions associated with them, including autism, life threatening obesity and seizures. Genetics conditions screened will be fragile X, Prader Willi, Angelman, Dup15q, Turner, XXY, XXXY and XXYY syndromes. 100,000 infants will be recruited as part of the whole-of-state birth cohort (GenV), with samples collected and stored over 3 years. In its 4th year, EpiGNs is expected to identify ~200 children with genetically linked intellectual disability. Students will focus on defining trajectories for clinical and health-economics outcome measures for these children as compared to the whole population of children recruited into Gen V. Comparisons will be made between physical and developmental milestones, healthcare use and resource utilisation in this period for the infants with these conditions to the whole cohort.
Essential criteria: 
Minimum entry requirements can be found here:
neurodevelopment, genetics, outcomes, intellectual disability, screening, paediatrics, child
School of Clinical Sciences at Monash Health / Hudson Institute of Medical Research » Paediatrics
Available options 
Masters by research
Time commitment 
Top-up scholarship funding available 
Physical location 
Monash Children's Hospital
Assoc Prof 
David Godler
Mohammed Al-Shawsh

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