Category: Researcher Profiles
... improve the diagnostic rate for children with syndromic intellectual disability. Neurofibromatosis type 1 Cutaneous Neurofibroma Consortium ... FaceMatch searching for a diagnosis project Early onset intellectual disability (ID) affects up to 2% of the population, with 1 in 200 having ... Dudding-Byth is a founding director of the rare disease patient advocacy organisation-Rare Voices Australia and sits on the medical ...
Category: Researcher Profiles
... medicine for brain repair, prevention and optimising general health Disability advocacy Why did you get into research? I’d been working as a physio ... and the health management required for getting on with living with disability happens away from traditional healthcare settings – it ...
Category: General
... vision can help diagnosis of children with undiagnosed intellectual disability Miss Jane Goodwin | A different but not so rare parenting ... and where we want to be Dr Elizabeth Kepreotes | Rare disorders and advocacy in Australia today The Hunter is home to many leading ... rare genetic diseases, and inherited forms of intellectual disability for which the genetic basis remains unknown; developmental ...
Category: News & Articles
... group of parents to co-found Rare Voices Australia, our national advocacy group for rare diseases. Associate Professor ... Dudding-Byth is also the director of the NSW Genetics of Learning Disability service and is involved in the genetic diagnosis of children with moderate to severe intellectual disability (ID). Following advanced genetic testing, 50–70% of her ...
Category: News & Articles
... Professor Martin is currently a member of the RACP Policy and Advocacy Committee, the Council of the Australasian Society for Clinical ... vision to match the faces of children with undiagnosed intellectual disability Sara Halvedene Foundation Dr Patrick Oakley | Helping to ...
