“This is an opportunity to translate our stem cell research efforts into therapeutic realities for patients.”
- Dr. George Daley, co-chair, iPierian scientific advisory board
Spinal Muscular Atrophy
Spinal muscular atrophy (SMA), a recessive monogenic disease, is a common fatal pediatric genetic disease that affects one in 7000 newborns. Approximately one in 40 people are genetic carriers. SMA is caused by a mutation of the survival motor neuron 1 (SMN1) gene, causing a deficiency of the survival motor neuron (SMN) protein. The SMN protein is critical to the survival and health of motor neurons, and without this protein nerve cells may atrophy, shrink and eventually die, resulting in muscle weakness. The mechanisms linking SMN deficiency with dysfunction and loss of functioning motor units are not well understood.
Quality of life and survival of SMA patients are improved with aggressive supportive care including optimized respiratory and nutritional care and management of scoliosis and contractures. Several therapeutic compounds for the treatment of SMA are currently being studied. However, no therapeutic treatment options exist for patients today.
Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s Disease, is an adult-onset progressive motor neuron disease that affects approximately one in every 50,000 people . Approximately half of all patients die within 3 years of symptom onset, and remaining patients within 5 years.
The biological mechanisms that cause ALS are only partially understood. The only known cause of ALS is a mutation of the SOD1 gene. This mutation is believed to make a defective protein that is toxic to motor nerve cells. The SOD1 mutation, however, accounts for only 1 or 2 percent of ALS cases, or 20 percent of the familial (inherited) cases.
Parkinson’s Disease
Parkinson’s disease is a neurodegenerative disorder that affects 500,000 individuals in the United States. Approximately 95 percent of cases are idiopathic, and 5 percent are familial. Parkinson’s disease occurs when dopaminergic neurons in the substantianigra part of the brain become impaired. The neurons produce dopamine, which allows smooth, coordinated function of the body's muscles and movement. The loss of dopamine production in the brain causes the primary symptoms of Parkinson's disease, including tremor (shaking), slowness of movement, rigidity (stiffness), and difficulty with balance. Because Parkinson's disease is a progressive disorder, these symptoms worsen with time.