How CRISPR-Cas9 works
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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Can we cure genetic diseases by rewriting DNA?
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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A wish mom’s story: Sophie
Wish mom Sophie shares her family’s story and how her daughter’s (Carmel) wish transformed their lives.
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AHCF Family Meeting 2016 – Rapid Onset Dystonia Parkinsonism
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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What is Dystonic Tremor?
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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Demystifying Dystonia
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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Psychogenic Seizures — What are They, How Can They be Diagnosed and Treated?
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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ATP1A3 Mutation in Adult Rapid-Onset Ataxia
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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ATP1A3 mutation
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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