Repurposing drugs to treat rare diseases
The process of discovering a new drug, from the laboratory bench to the patient's bedside, is very expensive, especially for conditions that affect only a small number of individuals. Consequently, most rare genetic diseases lack established treatments, despite their severity.
A new rapid workflow to repurpose current drugs …
The researchers from the laboratory of Prof. Vladimir Katanaev established a new workflow specifically tailored for rare diseases, which accelerates the discovery of effective treatments but also reduces the time and cost associated with developing new drugs from scratch. This innovative approach allows researchers to identify the molecular defects and then test the therapeutic potential of thousands of drugs that are already in clinical use for other conditions, resulting in a drug repurposing.
The new workflow allows to rapidly identify the molecular defects involved and then identify repurposed drugs able to correct it.
… was successfully applied to a rare encephalopathy
The research team applied their new approach to a rare encephalopathy affecting children, which causes seizures and intellectual disabilities due to mutations in the YWHAG gene. The researchers found that the concerned protein, mutant 14-3-3γ, had severely reduced interaction with its partner proteins. Then, after screening about 3,000 approved drugs, they identified four potential candidates able to restore the deficient interaction and potentially treat the encephalopathy.
Even further investigations in vivo are needed, this new comprehensive strategy holds great promise for patients with rare genetic diseases who currently have limited treatment options.