Sanford Research scientist Kevin Francis, PhD, has received an $83,718 research grant to study CLN6 Batten disease — also known as variant late infantile CLN6 disease — and advance Anavex’s compounds to early trials.
The funding was awarded by the Charlotte and Gwenyth Gray Foundation, a family foundation named after two sisters from California who were diagnosed with Batten in 2015 at ages 4 and 2. Their parents, Gordon and Kristen Gray, started the foundation to raise funds for research and improve the lives of children with the disease.
“These families have worked really hard to fundraise money to give to my group to do that research,” Kevin Francis, PhD, said in a University press release. “So I’m thankful to them for that … and hopeful that what we do find will translate for some of these kids.”
Batten disease is an inherited genetic disorder that affects the function of lysosomes, which are small structures within cells that break down waste products and unused proteins into smaller components to be discarded or recycled.
Lysosomes contain more than 50 enzymes that mediate the breakdown of molecules. These enzymes are synthesized in an area of the cell known as the endoplasmic reticulum (ER), which is a network of membranes adjacent to the nucleus and a major site of protein production.
CLN6 is a protein that also resides in the ER. Severe mutations of the CLN6 gene cause a form of Batten disease in children. Symptoms first appear between the ages of 2 and 8 and include cognitive decline, seizures, vision problems, and walking difficulties.
Francis’ work has been devoted to understanding the importance of the CLN6 gene in specific cell types and its role in the nervous system, namely in astrocytes (a type of nerve cells), and determining how signal interactions between cells occur.
The new research grant, running for a year, will allow Francis’ team to look into these issues and advance their preliminary work.
Currently, there is no FDA-approved treatment to prevent, stop or reverse the symptoms once they appear. Recent research has been focused on the development of treatments that can replace mutated genes, such as CLN6, or providie properly working proteins.
“Everything we’re trying to do now is, once we have a child who is diagnosed with Batten disease, what can we do to either stabilize their symptoms or ideally reverse the symptoms?” Francis said.
“I got interested in working with rare diseases because there’s so little we understand about them, and there are only a handful that really have true therapies,” he added.
Francis’ lab will be working with Anavex, a pharmaceutical that has been developing compounds that target a specific protein that regulates how other proteins fold inside a cell.
The research team will see how these compounds affect different nerve cell types and determine if they can slow disease progression and increase lifespan in a mouse model of Batten. The goal of this partnership is to advance the most promising candidate molecules into early clinical trials.
“I’m hoping working with Anavex can prove to be beneficial for Batten disease patients. Maybe we could also use this as kind of a model project that we can apply to other rare diseases as well,” Francis said.
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