Parkinson's Disease

Parkinson's disease is a neurodegenerative disorder that affects predominately dopaminergic neurons in the substantia nigra. Symptoms generally develop slowly over years and can include tremors, bradykinesia, limb rigidity and gait and balance problems.

There is no cure for Parkinson's disease and existing treatment options, including medications and surgery, are only symptomatic. A better understanding of the pathogenesis of the disease will  enable the design of gene therapies for targeting aberrant pathways.

Huntington's Disease

Huntington disease is a progressive brain disorder that usually appears in a person's thirties or forties and begins with symptoms that include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea, which become more pronounced as the disease progresses. Affected individuals may have trouble walking, speaking, and swallowing.

There is no cure for Huntington's disease and patients  with this disorder usually live about 15 to 20 years after signs and symptoms begin.

Alzheimer's Disease

Alzheimer disease is a degenerative disorder of the brain that causes dementia and usually appears in people older than 65. As the disorder progresses, some patients with Alzheimer's disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Ultimately, in later stages of the disease, they require total care.

While some medications and management strategies may temporarily improve symptoms, there is no cure for Alzheimer's disease. Some forms of this disease have well known genetic causes and are potential targets for corrective gene therapies.

Amyotrophic Lateral Sclerosis

ALS is a progressive neurodegenerative diseases that affects nerve cells in the brain and spinal cord, causing loss of muscle control. ALS often begins with muscle twitching and weakness in a limb, or slurred speech. Eventually, ALS affects control of the muscles needed to move, speak, eat and breathe. There is no cure for this fatal disease but several gene therapies are under investigation to target the genes responsible for ALS.

RETT SYNDROME

Rett syndrome is a neurological disorder that occurs primarily in girls and leads to severe impairments, affecting nearly every aspect of the child’s life. Infants seem healthy during their first six months, but over time, rapidly lose coordination, speech, and use of the hands. There's no cure for Rett syndrome, but medications and physical therapy help manage symptoms and improve quality of life.

There are some well-characterized mutations that cause Rett syndrome and are promising candidates for gene correction therapies.