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1 day ago

Research Study Opportunity:

Are you the mum, carer, grandparent or health care worker involved in the life of a person with a rare, undiagnosed or genetic condition?

Anyone over the age of 18 years, with a Genetic, Undiagnosed, or Rare Disease, as well as carers, or members of advocacy and support groups can take part in this study.

The current environment of COVID-19 is changing the way we live our lives. In this extraordinary time, there are lessons being learnt, expectations changing, and boundaries being pushed, broken and recreated including in our wellbeing, socialising and healthcare.

In this study, researchers from Australian Genomics, Murdoch Children’s Research Institute and the Genetic Support Network of Victoria would like to hear from those in the Genetic, Undiagnosed and Rare Disease Community about the impacts of the COVID-19 pandemic on their well-being, access to healthcare, and peer support.

The ‘COVID-19 journal study’ is asking the community to share these experiences through monthly journal entries over the next year. ‘Journal’ entries can take any form: these might be illustrations, written entries, videos, or voice-recorded entries, photographs, social media posts, poems or artworks. Any form that helps capture your ongoing experience!

The study is being run by Dr. Stephanie Best (Australian Genomics and Murdoch Children’s Research Institute) and Monica Ferrie of the Genetic Support Network of Victoria (GSNV).

“These journal entries will help us capture and understand how the rapidly changing COVID-19 environment is impacting the Genetic, Undiagnosed and Rare Disease Community,” said Stephanie.

“By doing so, we can better identify and advocate for change that should continue into post COVID-19 healthcare and peer support settings to ensure the community are well supported into the future.”

How to take part
Anyone over the age of 18 years, with a Genetic, Undiagnosed, or Rare Disease, as well as carers, or members of advocacy and support groups can take part in this study. Participants are invited to email these entries to researchers. All entries will be stored securely in password protected computers and anonymised.

To express your interest in participating please register for the study here. Researchers will then be in contact with further details.

Or email the research team directly at C19Journals@mcri.edu.au or Ph: (03) 8341 6315. More information also on the GSNV website here.

Recruitment will take place through the month of June 2020 ... See MoreSee Less

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SCN2A Australia

7 days ago

Lennox-Gastaut syndrome (LGS) is an epilepsy syndrome that can develop over time from childhood seizures that remain uncontrolled by treatments. It’s common for children with genetic epilepsy to develop LGS which can then further exacerbate their symptoms. To better understand LGS, we speak to TJ Salazar, Director of Research and Strategy for the LGS Foundation.

You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts, Spotify, and Google Podcasts or in your podcast app.

#LGS #genetics #SCN2A #epilepsy #SCN2Ainsights ... See MoreSee Less

Lennox-Gastaut Syndrome

scn2aaustralia.org

Lennox-Gastaut syndrome (LGS) is an epilepsy syndrome that can develop over time from childhood seizures that remain uncontrolled by treatments.

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