General News

2020 PMD Virtual Family Symposium – July 25, 2020

2020 PMD Virtual Family Symposium – July 25, 2020

The organizers of the 2020 PMD Virtual Symposium would like to extend their most sincere thanks to all the families, clinicians, scientists, and honored guests who took the time to join us for the event. The recorded presentations are now available for those who...

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Coronavirus Resources

Coronavirus Resources

Courtesy of SWANAUS, we have provided some resources to assist you during the COVID-19 pandemicMental Health Resources This Way UpHead to HealthSchool TVHeadspaceLifelineBeyond BlueParentlineUseful Resources Coronavirus - ALDCoronavirus - Social story 1Coronavirus -...

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Massimo’s Mission has LIFT OFF!

Massimo’s Mission has LIFT OFF!

Massimo’s Mission has LIFT OFF! Massimo's Mission, a clinical and research program in childhood leukodystrophies, is now recruiting Australians facing challenges in obtaining a confirmed genetic diagnosis for a suspected leukodystrophy. Massimo’s Mission is a...

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The National Strategic Action Plan for Rare Diseases

The National Strategic Action Plan for Rare Diseases

Australian academics first called for a national plan for rare diseases in 2010, so it is with great excitement that the National Strategic Action Plan for Rare Diseases (the Action Plan) has been launched. Rare Voices Australia (RVA) has led the collaborative...

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National Strategic Plan for Rare Disease 2020

National Strategic Plan for Rare Disease 2020

https://www.rarevoices.org.au/page/167/national-strategic-action-plan-for-rare-diseases https://www.health.gov.au/ministers/the-hon-greg-hunt-mp/media/first-national-action-plan-for-rare-diseasesThe Murdoch Children’s Research Institute’s (MCRI) Rare Diseases Now...

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Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia

Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia

Courtsey of BMC Neurology: Vanishing white matter disease (VWMD) is one of the most prevalent inherited leukoencephalopathies, which generally presents in childhood as a progressive disorder while less beginning in adulthood. The present report describes the clinical, neuroimaging, and genetic findings of a female patient with adult-onset VWMD. In addition, to provide a clearer delineation of the clinical and genetic characteristics of female adult-onset VWMD patients, 32 genetically confirmed female adult-onset EIF2B-mutated cases are summarized.

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AGS Family Conference – June 22, 2019

AGS Family Conference – June 22, 2019

The Leukodystrophy Center at Children’s Hospital of Philadelphia (CHOP) would like to thank all those who took the time to join us for the 2019 AGS Family Conference on Saturday, June 22. They would also like to extend a special thanks to all those who watched the...

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Australian Story – Cracking the Code

Australian Story – Cracking the Code

Introduced by Dr Norman Swan from ABC Radio's Health Report The Damiani family's story has been described as a breathtaking example of how medicine can be transformed by the determination of ordinary people. Four years ago, Stephen and Sally Damiani's baby son Massimo...

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