Based in Dallas, Texas, AveXis is a synthetic biology platform company. AveXis has, at its core, a desire to establish unique industry and research alliances which will bring innovative treatments to people with unmet medical needs. Our work in spinal muscular atrophy (SMA), a rare/orphan disease, is our first focus. The name AveXis is derived from a combination of scientific terms involved in our work, in addition to a mythological figure:
Av = adeno-associated virus (AAV)
ve = vector
X = DNA helix
is = Isis (goddess of children, nature and magic)
Goddess Isis is particularly symbolic as our focus, SMA, affects children, and because we hope to “rework” nature with a little magic (in the form of brilliant scientific discovery) to treat it. So yes, it does have meaning. Isis is particularly symbolic as our focus, SMA, affects children, and because we hope to “rework” nature with a little magic (in the form of brilliant scientific discovery) to treat it.
An Introduction to Avexis’ Research
Our research division is currently developing a gene replacement therapy for spinal muscular atrophy (SMA).
SMA is the most common genetic cause of infant mortality in the world, and is the second most common inherited autosomal recessive disorder. Classified by the FDA as an orphan (meaning rare) disease, there is currently no medical treatment for SMA.
SMA is a disease that is manifested in varying degrees of severity (generally classified into four types), but all affected individuals experience impairment of mobility due to general muscle weakness and atrophy.
As an autosomal recessive disease, SMA is inherited from BOTH parents. Each parent must be a carrier of a specific mutated gene, and both must pass it on to their child. Most often, parents have no idea they carry the mutated gene, as it is recessive. Being a carrier does not appear to affect the health of the carrier. Parents may have other children who do not have SMA. SMA “shows itself” like other recessive traits (for example: blue eyes) only when both parents pass on the mutated gene. Approximately 1 in 40 people are SMA carriers, while about 1 in 6,000 have the disease.
The genetic cause of SMA is a mutation in a gene referred to as survival of motor neuron one (SMN1). SMN1 makes a protein, the survival motor neuron (SMN) protein, that is necessary for normal motor neuron development. Our bodies have another gene that produces this protein, SMN2, but it is unable to fully compensate if SMN1 is not producing a normal amount of SMN protein.