To mark Friedreich’s Ataxia Awareness Month, the Friedreich’s Ataxia Research Alliance (FARA) is hosting a Research Flash Talk series covering ongoing studies of gene and protein function, as well as clinical outcomes and insights.
A flash talk refers to a short presentation — typically five minutes or less, with a single PowerPoint slide — that is accessible for an audience without scientific expertise.
May is FA Awareness Month, and May 16 is Friedreich’s Ataxia Awareness Day. Throughout the month, FARA is hosting flash talks over several days, with different themes for each day. The presenters are all young investigators — graduate students and postdocs — from FARA-funded laboratories around the world.
The first talks, presented May 4, focused on the FXN gene and its resulting protein, called frataxin. Mutations in FXN cause Friedreich’s ataxia (FA), impairing the production of energy in cells and resulting in the accumulation of toxic free radicals.
On May 7, presenters focused on the use of disease models of FA, such as human stem cells and genetically engineered mouse models, with insights on how to transfer functional frataxin to nerve cells and possible drivers of smaller muscle mass and grip strength in people with FA.
Three more days of talks are upcoming. On May 15, the three talks starting at noon EST will focus on the molecular pathways that govern FA:
- Riccardo Turchi, of the University of Rome, will present research showing that a certain kind of fatty tissue, called brown adipose tissue (BAT), does not function properly in a mouse model of FA. With alterations such as buildup of lipids (fat molecules) and impaired lipid breakdown in cells, BAT dysfunction may be tied to the development of metabolic complications in FA. As such, “this tissue represents a valuable druggable target to treat metabolic complications in FA,” the scientists wrote.
- Ester Kalef-Ezra, of Brunel University London, will present data from an analysis of sphingolipids in FA. Sphingolipids are a type of lipid important for the normal functioning of the brain. Supported by observations that sphingolipid levels and related genes are altered in mouse models of FA and patients with this disease, the goal of this research is to identify dysregulated sphyingolipids that may be therapeutic targets in FA. The scientists will test an existing compound that has already been assessed for other diseases.
- Nicolas Eskenazi, of the University of Pennsylvania, will discuss the role of Nrf2 in FA. Nrf2 is a transcription factor — a protein that regulates the activity of genes. Specifically, Nrf2 is known to activate genes that promote the function of mitochondria, the cellular structures responsible for producing energy and where frataxin is found. Eskenazi’s research suggests that Nrf2 could be a biomarker or a therapeutic target in FA.
Three talks on May 21 will cover therapeutic approaches for FA, also starting at noon EST:
- Joseph Johnson, of Children’s Hospital of Philadelphia, will talk about how Reata Pharmaceuticals‘ RTA 408 (omaveloxolone) affects the cells of people with FA, specifically how this potential therapy — which has shown promise in the Phase 2 MOXIe trial (NCT02255435) — changes mitochondrial shape and function.
- Joseph Rainaldi, of the University of California San Diego, will discuss the use of CRISPR/Cas-9, a gene editing technology, to modify the FXN gene such that cells are able to make functional frataxin. Supporting its therapeutic application, this technology has been used to generate healthy levels of frataxin in blood stem cells from people with FA.
- Acacia Hori, of Caltech, will discuss the use of modified viruses to deliver a non-mutated version of FXN to the cells of people with FA. This type of viral delivery is the backbone of many gene therapies, and Hori’s team is now testing it in mouse models of FA.
Finally, three talks on May 28 will focus on clinical outcomes related to FA. They will start at 7 p.m. EST:
- Chukwunonso Okoli, of VA Medical Center-Albany, will discuss proteins in the heart that behave differently in people with FA, with a focus on two proteins related to diabetes that are changed in FA.
- Hannah Reece, of the University of Melbourne, will present a home-based speech rehabilitation program called SpeechATAX, which was designed to help people with hereditary ataxia speak more clearly.
- Jaclyn Tamaroff, of the Children’s Hospital of Philadelphia, will discuss challenges related to bone health in FA. She will also describe a survey that will be used to better understand how bone health affects people with this disorder.
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