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June 24, 2022
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How CRISPR-Cas9 works

May 11, 2019May 11, 2019 - by siggi

Geneticist Jennifer Doudna co-invented a groundbreaking new technology for editing genes, called CRISPR-Cas9. The tool allows scientists to make precise edits to DNA strands, which could lead to treatments for …

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Presentations

Can we cure genetic diseases by rewriting DNA?

May 11, 2019May 11, 2019 - by siggi

In a story of scientific discovery, chemical biologist David R. Liu shares a breakthrough: his lab’s development of base editors that can rewrite DNA. This crucial step in genome editing …

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News / Presentations

A wish mom’s story: Sophie

April 1, 2019April 1, 2019 - by siggi

Wish mom Sophie shares her family’s story and how her daughter’s (Carmel) wish transformed their lives.

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Presentations

AHCF Family Meeting 2016 – Rapid Onset Dystonia Parkinsonism

July 31, 2018 - by siggi

Presentation by Laurie Ozelius, PhD. at the 2016 AHCF Family Meeting in Indianapolis regarding the Rapid Onset Dystonia Parkinsonism (RDP). Slides and Audio

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Interviews / Presentations

What is Dystonic Tremor?

July 31, 2018 - by siggi

Dystonic tremor is an interesting condition. Rather than being a disease, dystonic tremor really manifests with patients who have a shake, usually in their hand and often a task-specific shake. …

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Presentations

Demystifying Dystonia

July 31, 2018 - by siggi

In this video presentation, we start by providing a basic overview of what dystonia is and the prevalence of this condition by looking at both age and gender. Afterwards, a …

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Presentations

Psychogenic Seizures — What are They, How Can They be Diagnosed and Treated?

July 29, 2018 - by siggi

Psychogenic seizures are attacks that may look like epileptic seizures, but are not caused by abnormal brain electrical discharges. Hear the experts explain this confusing disorder, its diagnosis and treatment. …

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Presentations

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

July 29, 2018 - by siggi

ATP1A3 Mutation in Adult Rapid-Onset Ataxia. Kathleen J. Sweadner et al (2016), PLoS ONE http://dx.doi.org/10.1371/journal.pon… A 21-year old male presented with ataxia and dysarthria that had appeared over a period …

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Home Videos / Presentations

AHC – Monocular Nystagmus

July 19, 2018July 21, 2018 - by siggi
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Presentations

ATP1A3 mutation

July 19, 2018July 21, 2018 - by siggi

Heterozygous mutations of the ATP1A3 gene cause rapid-onset dystonia-parkinsonism (RDP)1,2 and alternating hemiplegia of childhood (AHC).3,4 Intermediate AHC/RDP presentations and phenotypic diversity emerge.5 Aiming at identification of ATP1A3-related conditions beyond …

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  • Hanne Poulsen – ATP1A3 symposium in Reykjavik, Iceland

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