Anne Hart
Brown University, RI·Genetics
Alternating Hemiplegia of Childhood (AHC) is a rare disorder in which children have repeated episodes of paralysis. It is caused by dominant mutations in ATP1A3, a sodium-potassium pump.
- Fields
Genetics
Neuroscience
Biology
- Topics
Alternating Hemiplegia of Childhood
Na+/K+-ATPase
sodium-potassium pump
- Grants
- 1 known grant, through May 2028
What they work on
- Identify conserved suppressor genes, which reduce the defects caused by a mutation, in newly developed C. elegans models carrying common ATP1A3 mutations found in patients with Alternating Hemiplegia of Childhood, using a functional genetic approach.
- Assess which cellular mechanisms are relevant to AHC disease processes, by studying how patient ATP1A3 mutations change the function of this sodium-potassium pump in C. elegans models.
- Carry out a genetic screen in a C. elegans AHC model to find genes whose disruption suppresses the model's defects, pointing to pathways that could be targeted for therapy.
More about the research
This pump moves sodium and potassium ions across the cell membrane and keeps nerve and muscle cells able to fire properly. Several key questions remain open: how patient mutations change the pump's function, what cellular problems follow, and which proteins and pathways could be targeted with therapies.
Why it matters
Children with Alternating Hemiplegia of Childhood currently lack therapies that target the cause of their disease. By finding conserved genes and pathways that can offset the effects of ATP1A3 mutations, this work could reveal new drug targets. It could also clarify how the most common patient mutations disrupt cell function, which may guide efforts to develop treatments.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Alexandra Byrne
University of Massachusetts Chan Medical School, MA·Neuroscience
Determine how TIR-1/SARM1, a conserved protein that usually drives axon degeneration, instead protects C. elegans neurons from damage caused by excess acetylcholine receptor activity or paraquat-induced oxidative stress.
Sandeep Wontakal
Johns Hopkins University, MD·Genetics·Early-career
Identify the cis-regulatory elements, DNA control regions near the gene, that set when and where the long non-coding RNA lep-5 is expressed in C. elegans, using newly generated worm strains.
Mark Alkema
University of Massachusetts Chan Medical School, MA·Neuroscience
Identify the neuronal targets and molecular pathways through which nitric oxide made by gut bacteria suppresses seizures in C. elegans unc-2/CaV2α gain-of-function mutants, a worm model of a migraine-linked calcium channel disorder.
The school
Brown University: 23 labs on PI Pages, $375M a year on research, 251 research doctorates a year.
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