Media site for AHC and related disorders
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 …
How CRISPR-Cas9 works Read More
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 …
Can we cure genetic diseases by rewriting DNA? Read More
Wish mom Sophie shares her family’s story and how her daughter’s (Carmel) wish transformed their lives.
A wish mom’s story: Sophie Read More
Presentation by Laurie Ozelius, PhD. at the 2016 AHCF Family Meeting in Indianapolis regarding the Rapid Onset Dystonia Parkinsonism (RDP). Slides and Audio
AHCF Family Meeting 2016 – Rapid Onset Dystonia Parkinsonism Read More
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. …
What is Dystonic Tremor? Read More
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 …
Demystifying Dystonia Read More
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. …
Psychogenic Seizures — What are They, How Can They be Diagnosed and Treated? Read More
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 …
ATP1A3 Mutation in Adult Rapid-Onset Ataxia Read More
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 …
ATP1A3 mutation Read More