Compelling Research Involving STXBP1 to Help Patients Get a Diagnosis More Quickly

Innovative New Research with the STXBP1 Gene

Exciting developments are taking place in the world of genetics, and a recent study by researchers from Rady Children’s Institute for Genomic Medicine (RCIGM) and InVivo Biosystems shines a light on STXBP1. You can read the recent press release from Rady Genomics here.

The research team in this study adopted a creative approach replacing a worm’s own gene with the human STXBP1 gene to see how it behaved. This method allowed them to determine whether specific gene changes were pathogenic or not.

Why is this important for the STXBP1 Community?

Some patients' genetic reports find a "variant of uncertain significance", which does not provide a full diagnosis and leaves the family with uncertainty. This research aims to help to resolve variants of uncertain significance more quickly. “Once the humanized platform of the STXBP1 gene is established in the worm, we can test new variants in as little as two weeks — in some cases even faster,” said Chris Hopkins, Chief Scientific Officer for InVivo Biosystems (many of you in the STXBP1 community may remember that Chris presented at an STXBP1 event in 2019. You can find his talk here).

Obtaining a diagnosis earlier is crucial because it ensures the correct treatments, financial support for medical expenses, and a clear understanding of what lies ahead for families. It helps families connect more quickly to other families with similar genetic anomalies to share knowledge and compassion, which offers a very powerful support system.

STXBP1 Leading the Charge for Broader Applications 

The researchers have ambitious plans to expand their work to other genes that present similar symptoms and challenges. This means a broader range of patients could benefit from quicker and more precise diagnoses, potentially revolutionizing the way we approach genetic medicine.

In simple terms, this research represents a substantial leap forward in our comprehension of genetic disorders and our capacity to diagnose them accurately. It offers hope and the possibility of improved healthcare for countless patients and their families, including our STXBP1 community.

You can read the full study here.