SMC3 Mutation - Cornelia de Lange Syndrome
Nearly always, Cornelia de Lange Syndrome happens when a new gene mutation occurs in a child. Most commonly there is a mutation in the NIPBL gene, which was first linked to CdLS in 2004. Since then, mutations in a handful of other genes—SMC3 is one of them—have been found to cause syndromes overlapping with CdLS, but these mutations are much less well understood. Nowadays, researchers have the ability to produce animal models for almost any genetic disease. Mice, fish and flies with NIPBL mutations are studied in labs around the world, and helped the scientific community work out how that type of CdLS arises. No such models are studied for SMC3, however, so even basic facts about it remain unknown. This makes it difficult to predict how SMC3-CdLS might respond to different kinds of therapies. My goal is to raise funds to jump-start such research, creating one or more animal models of SMC3-CdLS and exploiting them to find new treatments.
Here’s a quick overview of how SMC3 mutations cause the disease
Vihaan’s specific mutation is A485del (SMC3 - c.1453_1455del nucleotide, p.A485del). This is a spontaneous mutation which leads to defective cohesin complex expression. This falls under the broader disease types called cohesinopathies and transcriptomopathies. Here’s a great write up by Peter Llyod-Thomas on CdLS
Our goal is to initiate groundbreaking research into SMC3-CdLS. By funding the creation of animal models, we can unravel this mutation's mysteries and pave the way for new treatments.
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Birth Weight, Growth and Head Size
Developmental Delays
Intellectual Disability
Gastrointestinal Involvement
Behavioral Issues
Facial Features
Limb Differences
Other System Abnormalities
Currently, no FDA-approved treatments exist for SMC3-CdLS. Your donations are crucial in jump-starting this vital research, offering hope not just to Vihaan but to all children affected by CdLS. Each contribution brings us closer to understanding and potentially treating this condition.