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New funding to tackle undiagnosed diseases and improve cancer immunotherapy

One of the researchers who helped crack the code of 10-year-old Northam girl Charlotte Patterson’s incredibly rare disease has received State Government funding that will allow her to use the same methods to rapidly assess the cases of hundreds more patients living with undiagnosed disease.

Impact for DCD

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Effect of early carriage of streptococcus pneumoniae on the development of pneumococcal protein-specific cellular immune responses in infancy

The aim of this study was to examine the relationship between nasopharyngeal pneumococcal colonization in early life and the development of T cell responses.

Intubation study points the way to safer surgery in babies

Perth researchers who were involved in an international study which examined two different techniques used to intubate newborns and young babies during surgery expect the findings to lead to a change in global practice.

Relationship between family quality of life and day occupations of young people with Down syndrome

This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

Valproate and risk of fracture in Rett syndrome

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician.

Caregiver’s attitudes, beliefs, and experiences for influenza vaccination in Australian children with medical comorbidities

Influenza vaccination recommendation by children’s hospital physicians and previous vaccine receipt in hospital was associated with vaccine uptake

Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...