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Pompe Disease is an inherited rare disorder (< 1:40,000 births) caused by the deficiency of acid-alpha-glucosidase (GAA) in muscle. This deficiency results in the accumulation of glycogen in organs and tissues, especially muscles, which can impair their ability to function normally. While enzyme replacement has shown promise in patients with infantile-onset Pompe disease, no curative therapy is available. More information on Pompe disease is available here.
Limb Girdle 2i
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild. More information on Limb Girdle 2i is available here.
Central Nervous System
Huntington’s disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent. More information on Huntington’s disease is available here.
The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. More information on epilepsy is available here.
Parkinson disease is a progressive disorder of the nervous system, affecting more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people, and about 60,000 new cases are identified each year. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. More information on Parkinson disease is available here.
Congestive Heart Failure (NanoCor)
Heart disease is the leading cause of death worldwide, with congestive heart failure (CHF) being the final stage of many heart diseases. CHF is a condition in which the heart is unable to supply sufficient amounts of blood and oxygen to the body. CHF can result from conditions that weaken the heart muscle, cause stiffening of the heart muscles, or increase oxygen demand by the body tissues beyond the heart’s capability to deliver. Approximately five million patients in the U.S. suffer from CHF, which is one of the most common reasons patients 65 and older are hospitalized. There is no cure for CHF short of a heart transplant. Only 2,300 heart transplants are performed annually. Device-based treatments, such as left ventricular assist devices (“LVADs”), are used to treat CHF patients, but these are short-term solutions and carry significant safety risks. Both LVAD and heart transplants are highly invasive procedures for which Medicare reimburses at a rate of $200,000 per patient. More information on CHF is available here.