Cure Rare Disease is a nonprofit organization that aims to help those who are impacted by rare diseases. Currently, the Boston-based company is planning a fundraiser to celebrate all of their accomplishments, along with raising money for patient testing programs. Through this event, they will also continue to support four families in Connecticut who are affected by Duchenne muscular dystrophy (DMD).

How Cure Rare Disease Helps Families

Three years ago, this nonprofit was formed by a group of clinicians and researchers from across the US. Their goal was to tailor treatments specifically to one’s genetic mutation, allowing them to best treat each individual.

Recently, Cure Rare Disease has been working with four Connecticut families who have sons affected by DMD. This cause is extremely important to the founder of the organization, Rich Horgan, as he has a younger brother with a very rare mutation that causes DMD. He saw the lack of treatment options and help for his own family, and he wanted to ensure that no other family had to endure the same issues. To do so, his organization works with diseases that typically do not get attention due to their rarity.

After three years of operation, Cure Rare Disease is finally in the end stages of developing a CRISPR-based gene therapy for DMD with rare mutations. The first patient? Rich’s brother Terry. Not only is this extremely positive news for the Horgans and others living with DMD, but it proves that Cure Rare Disease’s framework runs smoothly.

Horgan is excited about what this means for his own family, but he is also honored to work with other families impacted by the rare, genetic disorder. He has stated how important it is to treat the family and patient as equals during the research and treatment process, and that doesn’t always happen when working with doctors or researchers.

About the Fundraiser

The inaugural event will take place on June 5th in a hybrid virtual/in-person format. The in-person portion will take place at The Village in Stamford, featuring an action and awards ceremony. It is sponsored by a number of companies, one of which is Charles River Laboratories. The goal is to raise $250,000, all of which will go towards future preclinical development. You can learn more about the fundraiser here.

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is one of the nine forms of muscular dystrophy that is characterized by progressive muscle wasting and atrophy. Affected individuals experience progressive muscle weakness and wasting due to a lack of dystrophin. Symptoms include:

• Issues with motor skills
• Muscle weakness
• Falling
• Fatigue
• Issues with changing positions
• Problems walking,
• Learning disabilities

Eventually, DMD patients will experience heart disease and respiratory failure. All of these effects are caused by a mutation passed down on the X chromosome in a recessive pattern. This is why males are more likely to be affected than females. There is currently no cure for this condition, but treatments can help to manage symptoms.

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