Virginia Tech clinic gives hope to children struggling with rare diseases

There are 8,000 known rare diseases that affect 10% of Americans

When she arrived for her first session, Evie could not sit up on her own. Today, she can stand with assistance and is working to use a walker. (Photo by Clayton Metz for Virginia Tech.) (Virginia Tech)

An untreatable genetic disorder, CASK disorder, has severely impacted the lives of children globally.

The disorder is caused by a rare mutation in the CASK gene, a gene meant to regulate healthy brain development, and kids with the disorder are often unable to walk or talk.

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Researchers at the Fralin Biomedical Research Institute are looking to beat the odds.

The institute’s Neuromotor Research Clinic has been working for the past decade to develop intensive therapies for children with any type of brain disorder.

Two young girls, Evie and Sarah, were treated at the clinic after being diagnosed with CASK disorder.

After these intensive therapies, Sarah can now understand simple sentences, smile, play with toys and use sign language.

Evie can now stand with assistance and is working to use a walker.

“In addition to affecting more than 30 million Americans who need help from discoveries to advance treatments and cures, rare diseases offer an important biological window into cellular and molecular processes that manifest in other disorders that have much higher prevalence.” said Michael Friedlander, Executive Director of the Fralin Biomedical Research Institute and Virginia Tech’s Vice President for Health Sciences and Technology. “It’s vital that we continue to investigate the mechanisms and treatments of rare diseases to advance our understanding of human lifespan development, and ultimately to help patients with rare diseases while also providing insights and informing new therapeutics for treating more common disorders alike.”

Besides CASK disorder, the institute is also doing research on rare diseases like Brugada syndrome and Glioblastoma.

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