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Sanford Research Scientist Kevin Francis, PhD, received a research grant of $ 83,718 to study Batten CLN6 disease – also known as the late childhood CLN6 disease variant – and advance Anavex‘s at the first tests.

Funding was provided by the Charlotte and Gwenyth Gray Foundation, a family foundation named after two Californian sisters who were diagnosed with Batten in 2015 at the age of 4 and 2. Their parents, Gordon and Kristen Gray, created the foundation to raise funds for research and improve the lives of children with the disease.

“These families have worked very hard to raise funds to give to my group to do this research,” said Kevin Francis, PhD, at a university. Press release. “So I’m grateful to them … and I hope what we find translates into some of these kids.”

Batten disease is an inherited genetic disorder that affects the function of lysosomes, which are small structures inside cells that break down waste and unused protein into smaller components to throw away or recycle.

Lysosomes contain more than 50 enzymes which are involved in the degradation 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. Serious changes in CLN6 gene causes 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 difficulty walking.

Francis’ work has been devoted to understanding the importance of CLN6 gene in specific cell types and its role in the nervous system, namely in astrocytes (a type of nerve cell), and to determine how signal interactions between cells occur.

The new one-year fellowship will allow Francis’ team to address these questions and advance their preliminary work.

Currently, there is no FDA approved treatment to prevent, stop, or reverse symptoms once they appear. Recent research has focused on developing treatments that can replace mutated genes, such as CLN6, or provide well-functioning proteins.

“All we’re trying to do now is, once we have a child diagnosed with Batten disease, what can we do to stabilize their symptoms or ideally reverse the symptoms? »Says François.

“I got interested in working with rare diseases because we don’t understand a lot about them, and there are only a handful that really have real therapies,” he added.

Francis’ lab will work with Anavex, a pharmaceutical company that has developed compounds targeting a specific protein that regulates how other proteins fold inside a cell.

The research team will see how these compounds affect different types of nerve cells and whether they can slow disease progression and increase lifespan in a mouse model of Batten. The objective of this partnership is to advance the most promising candidate molecules towards the first clinical trials.

“I hope that working with Anavex can be of benefit to patients with Batten disease. Maybe we could also use it as a kind of model project that we can apply to other rare diseases as well, ”said Francis.

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