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2 days ago

Flinders University are looking at ways to diagnose autism. This study looking at early detection via eye scanning will now be expanded. ... See MoreSee Less

Revealed: The Aussie invention that could diagnose Autism earlier

An eye-scanning device invented by an Australian university could revolutionise the way autism is diagnosed.

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SCN2A Australia

5 days ago

One of the companies working on treatments for SCN2A is ROGCON. RogCon is a company with very strong ties to the SCN2A community - read below the evolution of this company.

RogCon is a biotechnology company focused on discovering and developing novel therapeutics for children suffering from SCN2A mutations, where no solutions currently exist. The Company was founded by two parents of children affected by SCN2A mutations, Alex Nemiroff (CEO) and Kelley Dalby (SVP), and Dr. Steven Petrou (CSO), a renowned neuroscientist specializing in genetic epilepsy.

Underwhelmed at the current standard of care and grim prognosis, the Founders set out to amass the world’s leading experts in epilepsy research and drug development to support and advance the Company’s efforts to identify and bring to market new disease-modifying ways to treat #SCN2A disease. This led to partnerships with key biopharma and academic institutions, including a collaboration with Ionis Pharmaceuticals, Inc. [Nasdaq: IONS] to harness their expertise in antisense oligonucleotide drug discovery.

Today, the RogCon team consists of dedicated scientists, researchers and professionals, advancing several new treatments to market and all guided by the singular goal of changing the lives of children and families impacted by mutations in SCN2A.

You can read more about their work and where their research is heading on their website: www.rogcon.com

Photo: RogCon founders from left to right: Kelley Dalby, Dr. Steven Petrou and Alex Nemiroff. ... See MoreSee Less

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SCN2A Australia

6 days ago

We have recently seen the evolution of Antisense oligonucleotides (ASO) in the rare disease space, most recently new treatments for Spinal Muscular Atrophy (SMA).

The Florey Institute of Neuroscience and Mental Health have been focusing on the use of the ASO technology for the treatment of #SCN2A DEE and has shown that this approach can provide a complete reversal of the disease phenotype in tested mouse models.

What is a ASO?

Antisense oligonucleotides (ASOs) are short, single-stranded pieces of modified genetic material derived from RNA or DNA building blocks. ASOs are designed to recognize a specific genetic sequence and directly target the genetic basis of an individual’s core disease-causing mutation and compensate for the mutation’s negative effects. Scientists can design ASO's to either prevent the production of a toxic protein or rescue expression of a helpful protein to yield a beneficial effect.

Whilst this video is a couple of years old it explains how the ASO treatment works.

#SCN2A #Epilepsy #ASO ... See MoreSee Less

Isis Module 1 Animation How Antisense Drugs Work

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SCN2A Australia

6 days ago

INTERNATIONAL NATURAL HISTORY STUDY..
As you will know the SCN2A International Natural History (NHS) study is currently underway.

Researchers have been receiving enrolments globally and want to make this study available to as many people as possible.

The NHS is an important evolution in the rare disease space and we are lucky to have the SCN2A NHS underway. It will help garner a greater understanding of SCN2A and provide the crucial information for any potential clinical trials.

If you have thought of participating but are restricted due to English not being your 1st language please still email Dr Katherine Howell and alert her to the assistance you require to participate. Dr Howell can then directly advise you if this is a possibility or not.

Email contact for Principal Investigator, Dr Howell - Katherine.Howell@rch.org.au ... See MoreSee Less

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The New York Times@nytimes·

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Prosecutors are looking to have "Sopranos" actress Annabella Sciorra, who says Harvey Weinstein raped her in 1993, testify at his trial
https://t.co/OVfoTkbNFw

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Evidence-Based Neo @EBNEO·

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How accurate is the Ultrasonic Cardiac Output Monitor in neonates compared with Echocardiography? A new study by CHOP's Maria Fraga et al.
#NeoEBM #EBNeoAlerts
https://t.co/7uHlAsGFX2
@ChildrensPhila

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EurekaMag @EurekaMag·

55m

THRA gene mutation in a child with congenital hypothyroidism https://t.co/srMCIdhg0W

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Apoyodravet @apoyodravet·

45m

DRAVETEANDO POR LOS PINARES DE SORIA L@S DEL BANDERÍN.
#LDB L@S DEL BANDERÍN @apoyodravet
#hazvisibleloinvible
#retos #retosdebici
Jose Antonio Lara Tomé
Equipo Embacal-ApoyoDravet
Con la colaboración de la Empresa Riojana Embacal.
Une tu empresa con el deporte solidario

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