There’s a New Study in the Works for Citrullinemia Type 1!

A new way of looking at an old idea–sometimes it’s all you need for innovation.

A change in perspective can have such a big effect on a study’s progress, especially in rare diseases such as citrullinemia type 1.

It’s how some of the world’s best inventions came about. Sometimes, all an experiment needs is a fresh set of eyes. And when the medical community takes advantage of this theory, it often leads to cures.

Alanna Schepartz, a chemistry professor at Yale University, has just come up with a new way to move proteins into cells using positive charges, something scientists have been trying to do for years.

The first disease she’s looking into treating with her innovative idea? Citrullinemia type 1.

Previous studies of this theory didn’t produce results and scientists figured their idea was just a failure. Wrong. The proteins were actually just getting stuck in cell vesicles along the way, which is why they never made it fully into the cell. They WERE moving though. Once Alanna realized this, she worked for over a decade to find a solution. This year she discovered a molecule that could enter cell vesicles and push the proteins through, directly into the cells.

Her discovery won her a grant from the Blavatnik Fund for Innovation at Yale. The fund was developed by the Office of Cooperative Research, and her study has been awarded 300,000 dollars for further research. It also won 5,000 dollars from the Biotech Pitch Conference at the Yale Innovation Summit this May.

Fully understanding the importance of having many hands on deck for a project, Alanna has appreciated having both academics and those outside of academia engage in the study. With many eyes on board, they’re hoping change will come soon for the citrullinemia type 1 community. The increase in funding should help speed along the project, and the team is excited to see the impact Alanna’s discovery could have for patients.

Read more about Alanna’s research here!

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