Weekly Spotlight - 31.10.24

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In the News

Developing Murine Models for Rare Neuromuscular Disease Research

Sarah Holbrook's dissertation explores creating and testing murine models for rare neuromuscular diseases like SMARD1. Using CRISPR, various models were developed, revealing insights into IGHMBP2-related conditions. Gene therapy showed promise, potentially broadening treatment options. This scientific journey highlights the importance of animal models in understanding and curing rare diseases.

Exploring Genetic Modifiers in Spinal Muscular Atrophy Research

In the quest for Spinal Muscular Atrophy (SMA) disease modifiers, researchers explore genetic and epigenetic factors that influence disease severity. While SMN2 is a well-known modifier, others like Plastin 3 and NAIP are emerging. Understanding these could lead to new therapies and better patient outcomes.

Breast Cancer Awareness: Checking Yourself with SMA

Chloe and Becca, living with spinal muscular atrophy, share their experiences for Breast Cancer Awareness Month. Chloe adapted her method; Becca sought help from her mum. Stay informed and proactive with support services and updates.

Limb-Girdle Weakness and Hypertrophy: Consider Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is primarily characterized by muscle weakness, but it can also present with muscle hypertrophy. A case study involving a 24-year-old male with SMA type 4 revealed limb-girdle weakness alongside unexpected muscle bulking, which resembled muscular dystrophy. This highlights the importance of not dismissing SMA when observing unusual muscle development.