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How Researchers Are Innovating to Create Treatments for Rare Diseases

There are over 7,000 rare diseases in the world today, affecting up to 30 million Americans. Researchers have traditionally steered their focus away from these diseases, but that’s changing. 

These days, they’re listening to patients, families, and medical providers to innovate new drugs and therapies for people with rare diseases.  

“What we’re doing today is laying the groundwork for understanding how in five or 10 years from now, we will have the tools and the capability to actually cure individuals,” said Jeremy Levin, CEO of Ovid Therapeutics, Inc. 

For example, Angelman syndrome (AS), a rare neurological and genetic disorder, affects 1 in every 12,000-20,000 people. In most cases, people with AS have a deficiency of the E3 ubiquitin protein ligase of chromosome 15. People with AS can have delayed development, movement and balance issues, and severe learning disabilities. 


Help is on the way

Currently, there are no FDA-approved therapies for AS, but new research is showing promise. Thousands of patients with diseases like AS and Fragile X syndrome (a genetic condition marked by learning disabilities and cognitive impairment) have participated in research studies to find transformative treatments for their diseases, and these potential medicines have tested favorably for safety and bioavailability profiles.

Treatments will offer hope for those with certain neurodevelopmental disorders, such as AS and Fragile X, by targeting the disruption of tonic inhibition, a central physiological process of the brain.

At least one treatment has advanced to the final stages of clinical evaluation for AS, and it has earned Orphan Drug and Fast Track designations from the U.S. Food and Drug Administration.

Researchers have made significant advances in understanding these rare diseases. Levin says it’s an exciting time in the field, calling this “the decade of rare disease neurology.” 

“We’re going to change neuro development, we’re going to really affect hundreds of thousands of families with these disorders,” he said. “And that’s going to really drive a deeper understanding of neurology, a much deeper understanding of the brain.”

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