Investigating The Mechanisms of ELFN1 Deficiency Disorder

Overview

Our brains require proper neuronal cell communication to work. Between the gap where neurons connect (referred to as the synapse) are receptors, chemical transmitters, and proteins which are involved in this communication process. Any disruption in communication can cause various disorders or conditions. For this project I focused on a specific protein called ELFN1 which binds to a synaptic receptor. Variants of ELFN1 can lead to a rare neurodevelopmental disorder known as ELFN1 Deficiency Disorder. I studied two of the variants found in this disorder. Understanding the fundamental mechanisms of ELFN1 Deficiency Disorder will allow researchers to discover therapeutic strategies for patients as well as support further studies into this condition in the future.

Awards (2)

• Bronze Medal
• Selected for CWSF 2026

Competition history

• CWSF 2026 Disease & Illness

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