Mutation-Specific Research

N=1 Blueprint: Mutation-Specific Research in Muscular Dystrophy

Muscular Dystrophy is caused by mutations in the dystrophin gene—one of the largest genes in the human body. However, these mutations vary significantly from patient to patient, making it impossible to develop a universal treatment that works for everyone.

In response, we are developing a groundbreaking N=1 research model that empowers parents of children with Muscular Dystrophy to become active coordinators and leaders in studies tailored to their child’s specific genetic mutation.

Our N=1 blueprint aims to bring together the essential tools, technologies, scientists, regulatory experts, and collaborators to create a ready-to-use framework for personalized research—putting families at the center of the scientific process.

Accelerating Research Through Innovation & Agility

In a race against time, innovation is not optional—it is essential because time is our most precious and limited resource. Therefore, we have adopted an agile and innovative mindset to accelerate every stage of the research lifecycle.

Our approach breaks from traditional models of slow, sequential research. Instead, we prioritize rapid iteration, early validation, and real-time adaptation, allowing us to shorten timelines without compromising scientific rigor.

We test hypotheses quickly, engage directly with collaborators, and refine protocols based on real-world data and emerging insights—ensuring our strategies remain responsive and effective.

This agile framework is not just about speed — it’s about strategic focus, accountability, and impact. It empowers us to:

•    Validate outcomes early with CRISPR-edited predictive mouse models
•    Eliminate non-viable paths faster, saving valuable resources
•    Build replicable, patient-driven blueprints that scale efficiently
•    Stay ahead of regulatory, scientific, and therapeutic shifts

Types of Mutations in Muscular Dystrophy

The mutations that cause Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) can take different forms, including:

  • Deletions (Most Common) – A section of the dystrophin gene is missing.
  • Duplications – An extra copy of part of the gene is present.
  • Point Mutations – A single change in the DNA sequence alters protein function.
  • Frameshift Mutations – The reading frame is disrupted, preventing normal dystrophin production.

The Complexity of Deletions: Why Mutation-Specific Research is Needed

Even within deletions, the most common type of mutation, the location and combination of deleted exons varies widely:

  • The dystrophin gene consists of 79 exons, and deletions can occur in many different locations.
  • Some mutations fall within "hotspot" regions, where existing treatments and research efforts are focused.
  • However, many patients have deletions outside of these hotspots, meaning they don’t benefit from current exon-skipping therapies.
Donate