by Jodee Redmond from In The Cloud Copy
Rich Horgan is the founder of the Boston-based biotech non-profit, Cure Rare Diseases. The 28-year-old decided to take action over concerns about his brother, Terry, who has Duchenne muscular dystrophy. Terry experiences frequent falls which, over time, suggest that he will eventually not be able to walk at all.
Horgan assembled a group of scientists to create a cure for Terry’s disorder. He is using Terry’s cells to accomplish this goal.
What is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy (DMD) is a genetic disorder. It causes muscle weakness and deterioration due to changes in a protein called dystrophin that normally helps to keep muscle cells intact and healthy.
DMD symptoms generally start between the ages of two and three. Most patients are boys, but girls can be affected by this rare disease too. It affects approximately 6 in 100,000 people.
Symptoms of DMD include the following:
- Difficulty with major motor skills (jumping, running, or walking)
- Enlarged calf muscles
- Lumbar lordosis (an inward curve of the spine)
- Muscle weakness
- Waddling when walking
As the disease progresses, it affects the patient’s heart and respiratory muscles. The scoliosis and muscle weakness continues, leading to further difficulties with breathing. Eventually, the patient may experience acute respiratory failure and death.
Family History of DMD
DMD has already affected the Horgan family. Three of their uncles live with the disease and their mother discovered she is a carrier. DMD patients used to have a short life expectancy and barely lived past their teenage years. Now life expectancy is 30 years or more.
The Horgan family started working with scientists immediately. Last year, Horgan was advised that Terry’s cells had been healed in a laboratory. His nonprofit is using new methods for developing customized medicines designed with CRISPR gene-modifying technology. As Terry explains, there is nothing like this method of treatment available now or even under development. This is DMD patients’ only hope.
Help from Scientists at Charles River Labs
Lauren Black, a respected scientist, was made aware of Terry’s situation living with DMD and decided to help with the research. She explained that Terry needs treatment urgently, and there was no question about agreeing to offer assistance.
Charles River Labs is now growing rodent models with DMD. The goal is to supply test subjects for the new drugs. Researchers know which gene is affected in patients like Terry and that it must be repaired.
Horgan says that the researchers are preparing to apply for Terry to be the first human to receive the medication and FDA approval is required. This development is expected to take place late this year. Horgan points out that it is frightening to be the first patient, especially since there is limited knowledge about the drug.
Check out the original story here.
