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23 hours ago

We have learnt that SCN2A presents as either Loss of Gain of Function. Understanding this will be important when it comes to precision medicine treatments. Below is a very technical paper looking to reduce the time and improve the techniques for predicting LOF or GOF, from the European Human Genetics Conference, June 15th, 2019.

In developing precision medicine treatments for people with SCNA2 mutations, it is important to know whether an individual’s gene mutation results in loss or gain of function. But there are hundreds of gene variants and testing an individual is time consuming and expensive. This study showed that using a machine learning model could predict loss or gain of function in individuals which may reduce the time and expense in choosing precision medicine treatments for individuals.

www.biorxiv.org/content/biorxiv/early/2019/06/14/671453.full.pdf ... See MoreSee Less

www.biorxiv.org

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SCN2A Australia

2 days ago

GETA Conference 2019: Dr Katherine Howell

TOPIC: Genetic Diagnosis: Will it Change my Child’s Current Treatment?

Dr Howell is currently leading the International NHS for #SCN2A

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Dr Katherine Howell - Genetic Epilepsy Conference 2019

Dr Howell will discuss 'Genetic diagnosis: will it change my child's current treatment?' at Genetic Epilepsy Conference 2019.

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SCN2A Australia shared a post.

6 days ago

IBM to build $10 million AI centre with Melbourne Uni ... See MoreSee Less

IBM to build $10 million AI centre with Melbourne Uni

A new centre at Melbourne Uni will focus on healthcare, using artificial intelligence to solve problems surrounding epilepsy, Alzheimer's and prosthetic limbs.

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SCN2A Australia

7 days ago

A new gut-based approach is being trialled in Australia in the hope of overcoming some of the challenges of autism spectrum disorder (ASD).

#SCN2A #SCN2Aautism #autism ... See MoreSee Less

Research explores role of gut bacteria in autism behaviours

A new gut-based approach is being trialled in Australia in the hope of overcoming some of the challenges of...

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EurekaMag @EurekaMag·

The Effect of Flat Dual-Cure Stabilizer Occlusal Splint in Pain Relief of Individuals Suffering from Migraine Headaches https://t.co/DhNhG34B7N

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UniMelb Newsroom@uommedia·

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After a long and heated ethical debate, Victoria’s new voluntary assisted dying laws will take effect from 19 June. @ethicsros says balancing the needs of patients and staff will be an ongoing challenge.@ethicsros can discuss conscientious objection vs equal access & staff impact

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Andy Tagg @andrewjtagg·

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As Sunday evening comes to an end in London, this is how some of us spent the day
https://t.co/wkrnfsTR2S

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ABC News@abcnews·

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Fed Cup tennis final to be played in Perth for first time in almost 50 years https://t.co/O5IZWetulJ

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