CRISPR therapy - DYSF gene

[SWAlexander]

Hi everyone,

I wanted to share some exciting news with you all. Since the publication of the paper “Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy” in December 2024, I’ve been both thrilled and deeply engaged in further research. You can find the paper here: https://www.nature.com/articles/s41467-024-55086-0

After reading the study, I reached out to Prof. Dr. Spuler with several questions.
Developing a CRISPR therapy for muscular dystrophy
https://www.mdc-berlin.de/news/press/developing-crispr-therapy-muscular-dystrophy
She kindly responded with the following:
"Would you need another effort to reach a correct, maybe genetic, diagnosis? You are welcome to get an appointment in our Charité Outpatient Clinic. Please let me know how we can support you."

Since my primary physician was unfamiliar with the connection between a weak sarcolemma and the DYSF gene, I’ve been diving deeper into this topic to better explain the situation. Now, I’m in the process of finding a neurologist who either understands or is open to learning about the methylated DYSF gene. This referral is essential to be accepted into the research clinic to receive CRISPR therapy. It would mean the world to finally have muscles that could carry me more than 50 feet without pain. The possibility of this research making a real difference is incredibly motivating.

Dysferlin Protein: Key Roles, Genetic Locations https://swaresearch.blogspot.com/2025/01/dysferlin-protein-key-roles-locations.html

 

[SWAlexander]

How many with ME/CFS were tested for:
Elevated Creatine Kinase (CK) refers to higher-than-normal levels of the enzyme creatine kinase in the blood. CK is primarily found in muscles (skeletal, cardiac, and smooth) and is released into the bloodstream when muscle cells are damaged or stressed.

The lab test code for Creatine Kinase (CK or CPK) test can vary depending on the laboratory or diagnostic service provider. However, common test codes used by major labs include:​

• CPT Code: 82550 (for total CK test)
• LabCorp Test Code: 001362
• Quest Diagnostics Test Code: 375

If you need a specific lab’s test code, it’s best to check their website or contact them directly. Let me know if you need help finding a specific provider’s code!

More at: https://swaresearch.blogspot.com/2025/02/how-many-known-illnesses-are-related-to.html

got to: ​

8. Other Conditions Contributing to Muscle Weakness​

Some disorders cause generalized muscle weakness due to chronic fatigue, deconditioning, or systemic dysfunction.

• Chronic Fatigue Syndrome (ME/CFS) – Persistent fatigue with muscle weakness
• Key Pathophysiological Role of Skeletal Muscle Disturbance in Post COVID and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS): Accumulated Evidence
  https://onlinelibrary.wiley.com/doi/10.1002/jcsm.13669
  Key Pathophysiological Role of Skeletal Muscle Disturbance in Post COVID and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS): Accumulated Evidence
  https://pubmed.ncbi.nlm.nih.gov/39727052/
• Fibromyalgia – Widespread muscle pain and fatigue
• Prolonged Bed Rest or Deconditioning – Muscle atrophy from inactivity